Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Charcot-Marie-Tooth disease, type 1A - (AD) | 14.1 | | Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186-9. (2707366) | | Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680-5. (2220808) | | Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159-65. (1303228) | | Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84. (1303230) | | Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176-9. (1303231) | | Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. (8275092) |
| | Peripheral myelin protein 22
|
|
|
| Charcot-Marie-Tooth disease, type 1B - (AD) | 14.2 | | Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388-94. (6952764) | | Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM. Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. Ann Hum Genet. 1982 Jan 1;46(Pt 1):25-7. No abstract available. (6954871) | | Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8. (7506095) | | Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35-9. (7693130) |
| |
| Charcot-Marie-Tooth disease, type 1C - (AD) | 14.3 | | Street, V. A.; Goldy, J. D.; Golden, A. S.; Tempel, B. L.; Bird, T. D.; Chance, P. F. : Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am. J. Hum. Genet. 70: 244-250, 2002. (11713717) | | Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel, B. L.; Lipe, H. P.; Scherer, S. S.; Bird, T. D.; Chance, P. F. : Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003. (12525712) |
| | Lipopolysaccharide-induced TNF factor
|
|
|
| Charcot-Marie-Tooth disease, type 1D - (AD) | 14.4 | | Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4. (9537424) |
| | Early growth response 2 protein
|
|
|
| Charcot-Marie-Tooth disease, type 1E, with deafness - (AD) | 14.5 | | Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E. : A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999. (10330345) | | Boerkoel, C. F.; Takashima, H.; Garcia, C. A.; Olney, R. K.; Johnson, J.; Berry, K.; Russo, P.; Kennedy, S.; Teebi, A. S.; Scavina, M.; Williams, L. L.; Mancias, P.; Butler, I. J.; Krajewski, K.; Shy, M.; Lupski, J. R. : Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51: 190-201, 2002. (11835375) |
| | Peripheral myelin protein 22
|
|
|
| Hereditary Neuropathy with Liability to Pressure Palsies - (AD) | 14.6 | | Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. Related Articles, Links DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143-51. (8422677) | | Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113. (8012388) | | Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreels FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151-6. (8112739) |
| | Peripheral myelin protein 22
|
|
|
| Charcot-Marie-Tooth neuropathy Type 1F - (AD) | 14.7 | | Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.-J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. C.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V. : Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003. (12566280) |
| | Neurofilament, light polypeptide 68kDa
|
|
|
| Charcot-Marie Tooth disease, demyelinating type 1G - (AD) | 14.8 | | Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. (26828946) |
| | peripheral myelin protein-2
|
|
|
| Charcot-Marie-Tooth neuropathy - (AD) | 14.9 | | Xue YY, Cheng HL, Dong HL, Yin HM, Yuan Y, Meng LC, Wu ZY, Yu H. A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report. BMC Neurol. 2021 Oct 20;21(1):402. doi: 10.1186/s12883-021-02399-y. PMID: 34666706; PMCID: PMC8527611. (34666706) | | Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. Erratum in: Am J Hum Genet. 2022 Apr 7;109(4):759-763. PMID: 33417887; PMCID: PMC7820722. (33417887) |
| | Polymerase III, RNA, Subunit B
|
|
|
| CMT with Congenital vertical talus - (AD) | 14.10 | | Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet. 2004 Jul;75(1):92-6. Epub 2004 May 14. (15146389) |
| |
| Slowed nerve conduction velocity - (AD) | 14.11 | | Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C. : Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998. (14508709) | | De Jonghe, P.; Timmerman, V.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Ceuterick, C.; Martin, J.-J.; Van Broeckhoven, C. : A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch. Neurol. 56: 1283-1288, 1999. (10520946) | | Verhoeven, K.; De Jonghe, P.; Van de Putte, T.; Nelis, E.; Zwijsen, A.; Verpoorten, N.; De Vriendt, E.; Jacobs, A.; Van Gerwen, V.; Francis, A.; Ceuterick, C.; Huylebroeck, D.; Timmerman, V. : Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73: 926-932, 2003. (9678704) |
| | Rho guanine nucleotide exchange factor 10
|
|
|
| Neuropathy, hereditary, with or without age-related macular degeneration - (AD) | 14.12 | | Auer-Grumbach M, Weger M, Fink-Puches R, Papi? L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. Epub 2011 May 15 (21576112) |
| | Fibulin 5 (extra-cellular matrix)
|
|
|
| Charcot-Marie-Tooth neuropathy - (AD) | 14.13 | | Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig , Julika Neumann , Geert Bultynck , Stéphanie Humblet-Baron , Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. (32949214) |
| | Inositol 1,4,5-triphosphate receptor, type 3
|
|
|
| Charcot-Marie-Tooth disease, type 1, related to ATP1A1 - (AD) | 14.14 | | Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. PMID: 36738336; PMCID: PMC10130110. (36738336) |
| | ATPase, Na+/K+ transporting, alpha-1 polypeptide
|
|
|
| Charcot-Marie-Tooth disease, dominant intermediate A - (AD) | 14.15 | | Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30. (11533914) | | Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. (26828946) | | Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15. (32937143) |
| | Golgi-specific brefeldin-A resistance factor 1
|
|
|
| Charcot-Marie-Tooth disease, dominant intermediate B - (AD) | 14.16 | | Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30. (15731758) |
| |
| Charcot-Marie-Tooth disease, dominant intermediate C - (AD) | 14.17 | | Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6. (14606043) | | Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22. (16429158) |
| |
| Charcot-Marie-Tooth disease, dominant intermediate D - (AD) | 14.18 | | Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. (10406984) |
| |
| Charcot-Marie-Tooth disease, dominant intermediate E - (AD) | 14.19 | | Boyer, O., Nevo, F., Plaisier, E., Funalot, B., Gribouval, O., Benoit, G., Cong, E. H., Arrondel, C., Tete, M.-J., Montjean, R., Richard, L., Karras, A., and 21 others. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. New Eng. J. Med. 365: 2377-2388, 2011. (22187985) |
| |
| Charcot-Marie-Tooth disease, dominant intermediate F - (AD) | 14.20 | | Soong, B.-W., Huang, Y.-H., Tsai, P.-C., Huang, C.-C., Pan, H.-C., Lu, Y.-C., Chien, H.-J., Liu, T.-T., Chang, M.-H., Lin, K.-P., Tu, P.-H., Kao, L.-S., Lee, Y.-C. : Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 92: 422-430, 2013. (23434117) |
| | Guanine nucleotidebinding protein, beta-4
|
|
|
| Charcot-Marie-Tooth disease, dominant intermediate G - (AD) | 14.21 | | Berciano, J., Peeters, K., Garcia, A., Lopez-Alburquerque, T., Gallardo, E., Hernandez-Fabian, A., Pelayo-Negro, A. L., De Vriendt, E., Infante, J., Jordanova, A. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. J. Neurol. 263: 361-369, 2016. (26645395) |
| | Neurofilament, light polypeptide 68kDa
|
|
|
| Charcot-Marie Tooth disease, intermediate - (AD) | 14.22 | | Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Jun 14. pii: awz151. doi: 10.1093/brain/awz151. (31199454) |
| | Cilia- and flagella-associated protein 276
|
|
|
| Charcot-Marie-Tooth disease, recessive intermediate, A - (AR) | 14.23 | | Nelis, E., Erdem, S., Van den Bergh, P. Y. K., Belpaire-Dethiou, M.-C., Ceuterick, C., Van Gerwen, V., Cuesta, A., Pedrola, L., Palau, F., Gabreels-Festen, A. A. W. M., Verellen, C., Tan, E., Demirci, M., Van Broeckhoven, C., De Jonghe, P., Topaloglu, H., Timmerman, V. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59: 1865-1872, 2002. (12499475) |
| | Ganglioside-induced differentiation-associated protein 1
|
|
|
| Charcot-Marie-Tooth disease, recessive intermediate, B - (AR) | 14.24 | | McLaughlin, H. M., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P. F., Hansen, N. F., Mullikin, J.C., NISC Comparative Sequencing Program, and 13 others. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 87: 560-566, 2010. (20920668) |
| |
| Charcot-Marie-Tooth disease, recessive intermediate, C - (AR) | 14.25 | | Kim, H. J., Hong, Y. B., Park, J.-M., Choi, Y.-R., Kim, Y. J., Yoon, B. R., Koo, H., Yoo, J. H., Kim, S. B., Park, M., Chung, K. W., Choi, B.-O. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J. Rare Dis. 8: 104, 2013. Note: Electronic Article. (23777631) | | Azzedine, H., Zavadakova, P., Plante-Bordeneuve, V., Vaz Pato, M., Pinto, N., Bartesaghi, L., Zenker, J., Poirot, O., Bernard-Marissal, N., Arnaud Gouttenoire, E., Cartoni, R., Title, A., and 18 others. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum. Molec. Genet. 22: 4224-4232, 2013. (23844677) |
| | Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
|
|
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| Charcot-Marie-Tooth disease, recessive intermediate, D - (AR) | 14.26 | | Tamiya, G., Makino, S., Hayashi, M., Abe, A., Numakura, C., Ueki, M., Tanaka, A., Ito, C., Toshimori, K., Ogawa, N., Terashima, T., Maegawa, H., Yanagisawa, D., Tooyama, I., Tada, M., Onodera, O., Hayasaka, K. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 95: 294-300, 2014. (25152455) |
| | Cytochrome c oxidase subunit VIa polypeptide 1
|
|
|
| Charcot-Marie-Tooth disease, intermediate, related to SARS1 - (AD) | 14.27 | | He J, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS, Chen WJ. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. Ann Neurol. 2023 Feb;93(2):244-256. doi: 10.1002/ana.26501. Epub 2022 Sep 28. PMID: 36088542. (36088542) |
| |
| Charcot-Marie-Tooth disease Type 4A - (AR) | 14.28 | | Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct;2(10):1625-8. (11743579) | | Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002. (8268915) |
| | Ganglioside-induced differentiation-associated protein 1
|
|
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| Charcot-Marie-Tooth disease Type 4B1 - (AR) | 14.29 | | Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 1996 Jul;5(7):1051-4. (10802647) | | Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9. (8817346) |
| | Myotubularin-related protein 2
|
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| Charcot-Marie-Tooth disease Type 4B2 - (AR) | 14.30 | | Azzedine H, Bolino A, Ta²Øeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8. (12687498) | | Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Sch²∂neborn S, B²ºttner R, Buchheim E, Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2004 Feb 1;13(3):363. (23749797) | | Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1)
mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7. (12554688) |
| |
| Charcot-Marie-Tooth disease Type 4B3 - (AR) | 14.31 | | Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1)
mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7. (23749797) |
| |
| Charcot-Marie-Tooth disease, Type 4C - (AR) | 14.32 | | LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, Grid D, Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 1996 Oct;5(10):1685-8. (8894708) |
| |
| Charcot-Marie-Tooth disease, Type 4D (HMSN Lom, with deafness) - (AR) | 14.33 | | Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7. (10831399) | | Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30. (8841199) |
| | N-myc downstream regulated gene 1
|
|
|
| Neuropathy, congenital hypomyelinating, 1 - ( AR) | 14.34 | | Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4. (9537424) |
| | Early growth response 2 protein
|
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| Neuropathy, congenital hypomyelinating, 2 - ( AR) | 14.35 | | Warner, L. E.; Hilz, M. J.; Appel, S. H.; Killian, J. M.; Kolodny, E. H.; Karpati, G.; Carpenter, S.; Watters, G. V.; Wheeler, C.; Witt, D.; Bodell, A.; Nelis, E.; Van Broeckhoven, C.; Lupski, J. R. : Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460, 1996. (8816708) |
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| Charcot-Marie-Tooth disease, Type 4F - (AR) | 14.36 | | Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M. Related Articles, Links Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 02. (10848494) | | Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. (11133365) |
| |
| Charcot-Marie-Tooth disease, Type 4G (type Russe) - (AR) | 14.37 | | Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27. (22978647) | | Sevilla, T., Martinez-Rubio, D., Marquez, C., Paradas, C., Colomer, J., Jaijo, T., Millan, J. M., Palau, F., Espinos, C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 83: 565-570, 2013. (10915613) |
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| Charcot-Marie-Tooth disease, Type 4H - (AR) | 14.38 | | Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, M²©garban²© A, Haase G, L²©vy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16. (17564959) | | Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kr²ºttgen A, Rudnik-Sch²∂neborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. (17564972) |
| | Actin-filament binding protein Frabin
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| Charcot-Marie-Tooth disease, Type 4J - (AR) | 14.39 | | Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17. (17572665) |
| | Sac domain-containing inositol phosphatase 3
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| Charcot-Marie-Tooth disease, Type 4K - (AR) | 14.40 | | Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. (24027061) |
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| Charcot-Marie Tooth disease - (AR) | 14.41 | | Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. 2019 Apr 22. doi: 10.1007/s10048-019-00576-3. (31011849) |
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| Charcot-Marie Tooth disease related to CNTNAP1 - (AR) | 14.42 | | Freed AS, Weiss MD, Malouf EA, Hisama FM. CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle Nerve. 2019;60(5):E28-E30. doi:10.1002/mus.26658 (31397905) |
| | Contactin-Associated Protein 1
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| Charcot-Marie-Tooth neuropathy X-linked 1 - (XD) | 14.43 | | Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039-42. (7477983) | | Bone, L. J.; Dahl, N.; Lensch, M. W.; Chance, P. F.; Kelly, T.; Le Guern, E.; Magi, S.; Parry, G.; Shapiro, H.; Wang, S.; Fischbeck, K. H. : New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866, 1995. (8266101) |
| | Gap junction protein, beta 1, 32kDa (connexin 32)
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| Charcot-Marie-Tooth neuropathy X-linked 2 - (XR) | 14.44 | | Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73. (1557086) |
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| Charcot-Marie-Tooth neuropathy X-linked 3 - (XR) | 14.45 | | Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73. (1557086) | | Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology. 2006 Dec 12;67(11):2016-21. (17159110) | | Brewer M.H, .Chaudhry R., Qi J., Kidambi A., Drew
A.P., Menezes M.P., et al. Whole Genome Sequencing
Identifies a 78 kb Insertion from Chromosome 8 as the
Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS
Genet. 2016 Jul 20;12(7):e1006177 (27438001) |
| | 78 kb inter-chromosomal insertion (from chro 8q24.3)
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| Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR) | 14.46 | | Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 1995 Sep 20;29(2):409-12. (23217327) | | Rinaldi C, Grunseich C, Sevrioukova IF, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 2012;91:1095–1102. (8666389) |
| | Apoptosis-inducing factor, Mitochondria-associated 1
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| Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR) | 14.47 | | Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29. (17701900) |
| | Phosphoribosyl pyrophosphate synthetase 1
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| Charcot-Marie-Tooth neuropathy X-linked 6 - (XD) | 14.48 | | Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Molec. Genet. 22: 1404-1416, 2013. (23297365) |
| | Pyruvate dehydrogenase kinase, isoenzyme 3
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| Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 - (XLR) | 14.49 | | Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2015 Oct;25(10):786-93. doi: 10.1016/j.nmd.2015.07.001. Epub 2015 Jul 7. PMID: 26227883; PMCID: PMC4920059. (26227883) | | Tahmasebi-Birgani M, Hajjari M, Golchin N, Shalbafan B, Mohammadi-Asl J, Sadeghian F. Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy. Iran J Basic Med Sci. 2019 May;22(5):576-580. doi: 10.22038/ijbms.2019.30754.7414. PMID: 31217940; PMCID: PMC6556509. (31217940) |
| | Dystrophin-related protein 2
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| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD) | 14.50 | | Roa BB, Dyck PJ, Marks HG, Chance PF. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. (8275092) |
| | Peripheral myelin protein 22
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| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD) | 14.51 | | Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8. (7506095) |
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| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD digenic) | 14.52 | | Chung, K. W.; Sunwoo, I. N.; Kim, S. M.; Park, K. D.; Kim, W.-K.; Kim, T. S.; Koo, H.; Cho, M.; Lee, J.; Choi, B. O. : Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005. (15947997) |
| | Early growth response 2 protein
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| | Gap junction protein, beta 1, 32kDa (connexin 32)
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| Dejerine-Sottas hypertrophic neuropathy, recessive - (AR) | 14.53 | | Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. (11133365) |
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| Charcot-Marie-Tooth neuropathy Type 2A1 - (AD) | 14.54 | | Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 1992 Jan;12(1):155-7. (1733853) |
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| Charcot-Marie-Tooth neuropathy Type 2A2 - (AD) | 14.55 | | Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 1993 Aug;17(2):370-5. (15064763) | | Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004. (8406488) |
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| Charcot-Marie-Tooth neuropathy Type 2B - (AD) | 14.56 | | Kwon, J. M.; Elliott, J. L.; Yee, W.-C.; Ivanovich, J.; Scavarda, N. : Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858, 1995. (7573046) | | Pericak-Vance, M. A.; Speer, M. C.; Lennon, F.; West, S. G.; Menold, M. M.; Stajich, J. M.; Wolpert, C. M.; Slotterbeck, B. D.; Saito, M.; Tim, R. W.; Rozear, M. P.; Middleton, L. T.; Tsuji, S.; Vance, J. M. : Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93, 1997. (12870133) | | Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003. (10732809) |
| | RAB7, member RAS oncogene family
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| Hereditary motor and sensory neuropathy, type IIC - (AD) | 14.57 | | Klein, C. J.; Cunningham, J. M.; Atkinson, E. J.; Schaid, D. J.; Hebbring, S. J.; Anderson, S. A.; Klein, D. M.; Dyck, P. J. B.; Litchy, W. J.; Thibodeau, S. N.; Dyck, P. J. : The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60: 1151-1156, 2003. (12682323) | | McEntagart, M. E.; Reid, S. L.; Irrthum, A.; Douglas, J. B.; Eyre, K. E. D.; Donaghy, M. J.; Anderson, N. E.; Rahman, N. : Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57: 293-297, 2005. Note: Erratum: Ann. Neurol. 57: 609 only, 2005. (15668982) | | Auer-Grumbach, M., Olschewski, A., Papic, L., Kremer, H., McEntagart, M. E., Uhrig, S., Fischer, C., Frohlich, E., Balint, Z., Tang, B., Strohmaier, H., Lochmuller, H., and 13 others Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genet. 42: 160-164, 2010. (20037586) | | Deng, H.-X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F., Yau, H.-J., Yang, Y., Zhai, H., Siddique, N., Hedley-Whyte, E. T., Delong, R., Martina, M, Dyck, P. J., Siddique, T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nature Genet. 42: 165-169, 2010. (20037587) | | Landoure, G., Zdebik, A. A., Martinez, T. L., Burnett, B. G., Stanescu, H. C., Inada, H., Shi, Y., Taye, A. A., Kong, L., Munns, C. H., Choo, S. S., Phelps, C. B., and 8 others Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genet. 42: 170-174, 2010. (20037588) |
| | Transient receptor potential cation channel, subfamily V, member 4
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| Charcot-Marie-Tooth neuropathy Type 2D - (AD) | 14.58 | | Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996 Sep;5(9):1373-5. (8872480) |
| |
| Charcot-Marie-Tooth neuropathy Type 2E - (AD) | 14.59 | | Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 07. (10841809) | | Georgiou, D.-M.; Zidar, J.; Korosec, M.; Middleton, L. T.; Kyriakides, T.; Christodoulou, K. : A novel NF-L mutation pro22-to-ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4: 93-96, 2002. (12393795) | | Brownlees, J.; Ackerley, S.; Grierson, A. J.; Jacobsen, N. J. O.; Shea, K.; Anderton, B. H.; Leigh, P. N.; Shaw, C. E.; Miller, C. C. J. : Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Molec. Genet. 11: 2837-2844, 2002. (12481988) |
| | Neurofilament, light polypeptide 68kDa
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| Charcot-Marie-Tooth neuropathy Type 2F - (AD, AR) | 14.60 | | Ismailov, S. M.; Fedotov, V. P.; Dadali, E. L.; Polyakov, A. V.; Van Broeckhoven, C.; Ivanov, V. I.; De Jonghe, P.; Timmerman, V.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ. J. Hum. Genet. 9: 646-650, 2001 (15122254 ) | | Evgrafov, O. V.; Mersiyanova, I.; Irobi, J.; Van Den Bosch, L.; Dierick, I.; Leung, C. L.; Schagina, O.; Verpoorten, N.; Van Impe, K.; Fedotov, V.; Dadali, E.; Auer-Grumbach, M.; and 14 others : Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet. 36: 602-606, 2004. (11528513) | | Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S. Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations. Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. doi: 10.1002/acn3.51364. Epub 2021 May 4. PMID: 33943041; PMCID: PMC8108422. (33943041) |
| | Heat shock 27kDa protein 1
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| Charcot-Marie-Tooth neuropathy Type 2H - (AD) | 14.61 | | Barhoumi, C.; Amouri, R.; Ben Hamida, C.; Ben Hamida, M.; Machghoul, S.; Gueddiche, M.; Hentati, F. : Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromusc. Disord. 11: 27-34, 2001. (11166163) |
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| Charcot-Marie-Tooth neuropathy Type 2I - (AD) | 14.62 | | Auer-Grumbach, M.; Strasser-Fuchs, S.; Robl, T.; Windpassinger, C.; Wagner, K. : Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004. (14638973) |
| |
| Charcot-Marie-Tooth neuropathy Type 2J - (AD) | 14.63 | | De Jonghe, P.; Timmerman, V.; Ceuterick, C.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Vercruyssen, A.; Verellen, C.; Van Maldergem, L.; Martin, J.-J.; Van Broeckhoven, C. : The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290, 1999. (10071056) | | Chapon, F.; Latour, P.; Diraison, P.; Schaeffer, S.; Vandenberghe, A. : Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999. (10329755) |
| |
| Charcot-Marie-Tooth neuropathy Type 2K - (AD, AR) | 14.64 | | Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002. (11743579) | | Birouk, N.; Azzedine, H.; Dubourg, O.; Muriel, M.-P.; Benomar, A.; Hamadouche, T.; Maisonobe, T.; Ouazzani, R.; Brice, A.; Yahyaoui, M.; Chkili, T.; LeGuern, E. : Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch. Neurol. 60: 598-604, 2003. (12707075) | | Claramunt, R., Pedrola, L., Sevilla, T., Lopez de Munain, A., Berciano, J., Cuesta, A., Sanchez-Navarro, B., Millan, J. M., Saifi, G. M., Lupski, J. R., Vilchez, J. J., Espinos, C., Palau, F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J. Med. Genet. 42: 358-365, 2005. (15805163) |
| | Ganglioside-induced differentiation-associated protein 1
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| Charcot-Marie-Tooth neuropathy Type 2L - (AD) | 14.65 | | Tang, B.; Luo, W.; Xia, K.; Xiao, J.; Jiang, H.; Shen, L.; Tang, J.; Zhao, G.; Cai, F.; Pan, Q.; Dai, H.; Yang, Q.; Xia, J.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114: 527-533, 2004. (15021985) | | Tang, B.; Zhao, G.; Luo, W.; Xia, K.; Cai, F.; Pan, Q.; Zhang, R.; Zhang, F.; Liu, X.; Chen, B.; Zhang, C.; Shen, L.; Jiang, H.; Long, Z.; Dai, H. : Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116: 222-224, 2005. (15565283) |
| | Heat shock 27kDa protein 8
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| Charcot-Marie-Tooth neuropathy Type 2N - (AD) | 14.66 | | Latour, P., Thauvin-Robinet, C., Baudelet-Mery, C., Soichot, P., Cusin, V., Faivre, L., Locatelli, M.-C., Mayencon, M., Sarcey, A., Broussolle, E., Camu, W., David, A., Rousson, R. A major determinant for binding and aminoacylation of tRNA-Ala in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth Disease. Am. J. Hum. Genet. 86: 77-82, 2010. (20045102) |
| |
| Charcot-Marie-Tooth neuropathy Type 2O - (AD) | 14.67 | | Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 89: 308-312, 2011 (21820100) |
| | Dynein, cytoplasmic 1, heavy chain 1
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| Charcot-Marie-Tooth neuropathy Type 2P - (AD) | 14.68 | | Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstread, T., Samuels, M. E. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLOS Genet. 6: e1001081, 2010. Note: Electronic Article. (22012984) | | Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2012 Jul 11. doi: 10.1038/ejhg.2012.146. (20865121) | | Weterman, M. A., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G. M., Fluiter, K., de Wissel, M. B., Sizarov, A., Nurnberg, G., Nurnberg, P., Zelcer, N., Schelhaas, H. J., Baas, F. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum. Molec. Genet. 21: 358-370, 2012. (22781092) |
| | Leucine rich repeat and sterile alpha motif containing 1
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| Charcot-Marie-Tooth neuropathy Type 2Q - (AD) | 14.69 | | Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. (23141294) |
| | Dehydrogenase E1 and transketolase domain containing 1
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| 14.70 | | Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing
identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013; 84:1247–1249 (23729695) |
| | Methionyl-tRNA synthetase
|
|
|
| Charcot-Marie-Tooth neuropathy Type 2V - (AD) | 14.71 | | Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015. (25818867) |
| | N-acetyl-alpha-glucosaminidase
|
|
|
| Charcot-Marie-Tooth neuropathy Type 2W - (AD) | 14.72 | | Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A., Antonellis, A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34: 191-199, 2013. (22930593) | | Safka Brozkova, D., Deconinck, T., Griffin, L. B., Ferbert, A., Haberlova, J., Mazanec, R., Lassuthova, P., Roth, C., Pilunthanakul, T., Rautenstrauss, B., Janecke, A. R., Zavadakova, P., and 9 others. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 138: 2161-2172, 2015. (26072516) |
| |
| Charcot-Marie-Tooth neuropathy Type 2Y - (AD) | 14.73 | | Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T.-F., Blanton, S. H., Weihl, C. C., Zuchner, S., Shy, M. E. A novel mutation in VCP causes Charcot-Marie-Tooth type 2 disease. Brain 137: 2897-2902, 2014. (25125609) |
| | Valosin-containing protein
|
|
|
| Charcot-Marie-Tooth neuropathy Type 2Z - (AD) | 14.74 | | Albulym, O. M., Kennerson, M. L., Harms, M. B., Drew, A. P., Siddell, A. H., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R. H., Zuchner, S., Reddel, S. W., Nicholson, G. A. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann. Neurol. 79: 419-427, 2016. (26497905) | | Sevilla, T., Lupo, V., Martinez-Rubio, D., Sancho, P., Sivera, R., Chumillas, M. J., Garcia-Romero, M., Pascual-Pascual, S. I., Muelas, N., Dopazo, J., Vilchez, J. J., Palau, F., Espinos, C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 139: 62-72, 2016. (26659848) |
| | MORC family CW-type zinc finger 2
|
|
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| Charcot-Marie-Tooth disease, axonal, type 2CC - (AD) | 14.75 | | Rebelo, A. P., Abrams, A. J., Cottenie, E., Horga, A., Gonzalez, M., Bis, D. M., Sanchez-Mejias, A., Pinto, M., Buglo, E., Markel, K., Prince, J., Laura, M., and 10 others. Cryptic amyloidogenic elements in the 3-prime UTRs of neurofilament genes trigger axonal neuropathy. Am. J. Hum. Genet. 98: 597-614, 2016. (27040688) |
| | Neurofilament, heavy polypeptide
|
|
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| Charcot-Marie-Tooth disease, axonal, type 2DD - (AD) | 14.76 | | Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brozkova, D. S., Haberlova, J., Mazanec, R., Tao, F., and 22 others. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2. Am. J. Hum. Genet. 102: 505-514, 2018. (29499166) |
| | ATPase, Na+/K+ transporting, alpha-1 polypeptide
|
|
|
| Charcot-Marie-Tooth disease, axonal, type 2FF - (AD) | 14.77 | | Rebelo, A. P., Cortese, A., Abraham, A., Eshed-Eisenbach, Y., Shner, G., Vainshtein, A., Buglo, E., Camarena, V., Gaidosh, G., Shiekhattar, R., Abreu, L., Courel, S., and 9 others. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain 144: 1197-1213, 2021. Note: Erratum: Brain 144: e64, 2021. [PubMed: 33889941, (33889941) |
| |
| Hereditary motor and sensory neuropathy, Okinawa type - (AD) | 14.78 | | Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997 Jun;41(6):771-80. (10545038) | | Takashima, H.; Nakagawa, M.; Suehara, M.; Saito, M.; Saito, A.; Kanzato, N.; Matsuzaki, T.; Hirata, K.; Terwilliger, J. D.; Osame, M. : Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromusc. Disord. 9: 368-371, 1999. (23553329) | | Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakagawa, M., Makino, S., Tamiya, G. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J. Hum. Genet. 52: 907-914, 2007. (9189038) | | Lee, S.-S, Lee, HJ., Park, J-M., et al. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. JAMA Neurol. 2013; 70: 607– 615,. (17906970) |
| |
| Hereditary motor and sensory neuropathy, type VIA with optic atrophy - (AD) | 14.79 | | Zuchner, S., De Jonghe, P., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Van Stavern, G., Krajewski, K. M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C. T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J. M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 59: 276-281, 2006. (16437557) |
| |
| CMT2 related to KIF5A - (AD) | 14.80 | | Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. (25008398) |
| |
| Early onset axonal neuropathy with sensory ataxia - (AD) | 14.81 | | Hong Y.B., Kang J., Kim J.H., et al. DGAT2 mutation in a
family with autosomal-dominant early-onset axonal
Charcot-Marie-Tooth disease. Hum Mutat 2016;37:473–80. (26786738) |
| | Diacylglycerol O-acyltransferase 2
|
|
|
| Charcot-Marie-Tooth disease, axonal, related to BAG3 - (AD) | 14.82 | | Noury J.B., Maisonobe T., Richard P., Delague V., Malfatti
E., Stojkovic T. Rigid spine syndrome associated with sensorymotor
axonal neuropathy resembling Charcot-Marie-Tooth
disease is characteristic of Bcl-2-associated athanogene-3 gene
mutations even without cardiac involvement. Muscle Nerve.
2017 Feb 22. doi: 10.1002/mus.25631. (28224639) |
| | BCL2-associated athanogene 3
|
|
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| Charcot-Marie-Tooth disease, axonal, related to JAG1 - (AD) | 14.83 | | Sullivan JM, Motley WW, Johnson JO, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest. 2020;130(3):1506-1512. doi:10.1172/JCI128152 (32065591) |
| |
| Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC - (AD) | 14.84 | | Liao YC, Chang FP, Huang HW, Chen TB, Chou YT, Hsu SL, Jih KY, Liu YH, Hsiao CT, Fukukda H, Mizuguchi T, Lin KP, Lin CK, Matsumoto N, Kennerson M, Lee YC. GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology. 2022 Jan 11;98(2):e199-e206. doi: 10.1212/WNL.0000000000013008. Epub 2021 Oct 21. PMID: 34675106 (34675106) |
| | Notch2 N-terminal-like protein
|
|
|
| Charcot-Marie-Tooth disease, axonal, related to CRYAB - (AD) | 14.85 | | Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, Reilly MM. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. Eur J Neurol. 2023 Sep 29. doi: 10.1111/ene.16063. Epub ahead of print. PMID: 37772343. (37772343) |
| |
| Charcot-Marie-Tooth disease, axonal, related to DHX9 - (AD) | 14.86 | | Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrab? de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. PMID: 37467750; PMCID: PMC10432148. (37467750) |
| |
| Charcot-Marie-Tooth disease, axonal, type 2A2B - (AR) | 14.87 | | Polke, J. M., Laura, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V. S., Houlden, H., Chamley, S. C., Blake, J., DeVile, C., Sandford, R., Sweeney, M. G., Davis, M. B., Reilly, M. M. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology 77: 168-173, 2011. (21715711) |
| |
| Charcot-Marie-Tooth disease, axonal, type 2B1 - (AR) | 14.88 | | Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet. 1999 Sep;65(3):722-7. (10441578) | | Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. Epub 2007 Mar 30. Review. (17467691) |
| |
| Charcot-Marie-Tooth disease, axonal, type 2B2 - (AR) | 14.89 | | Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., and 15 others Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10: 275-287, 2009. (19290556) | | Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel CT, Sticht H, Berghoff M, Berghoff C, Morera B, Meisterernst M, Reis A. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Jul 24. doi: 10.1007/s10048-018-0555-7. (30039206) |
| | polynucleotide kinase 3’-phosphatase
|
|
|
| Charcot-Marie-Tooth disease, axonal, type 2EE - (AR) | 14.90 | | Choi, Y.-R., Hong, Y. B., Jung, S.-C., Lee, J. H., Kim, Y. J., Park, H. J., Lee, J., Koo, H., Lee, J.-S., Jwa, D. H., Jung, N., Woo, S.-Y., Kim, S.-B., Chung, K. W., Choi, B.-O. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 15: 179, 2015. Note: Electronic Article (26437932) | | Baumann, M., Schreiber, H., Schlotter-Weigel, B., Loscher, W. N., Stucka, R., Karall, D., Strom, T. M., Bauer, P., Krabichler, B., Fauth, C., Glaeser, D., Senderek, J. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95: 182-186, 2019. (30298599) |
| | MpV17 mitochondrial inner membrane protein
|
|
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| Autosomal recessive CMT2 related to DNAJB2 - (AR) | 14.91 | | Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1. (25274842) |
| | DnaJ (Hsp40) homolog, subfamily B, member 2
|
|
|
| Neuromyotonia and axonal neuropathy, autosomal recessive - (AR) | 14.92 | | Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, G., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., and 25 others. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genet. 44: 1080-1083, 2012. (22961002) |
| | Histidine triad nucleotide binding protein 1
|
|
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| Charcot-Marie-Tooth disease, type 2R - (AR) | 14.93 | | Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. (25893792) | | Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17. (23562820) |
| | Tripartite motif containing 2
|
|
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| Charcot-Marie-Tooth disease, type 2S - (AR) | 14.94 | | Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., and 28 others. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 95:590-601. (25439726) | | Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. (25568292) |
| | Immunoglobulin mu binding protein 2
|
|
|
| Charcot-Marie-Tooth disease, type 2T - (AR) | 14.95 | | Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., Okamoto, Y., Matsuura, E., and 21 others. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann. Neurol. 79: 659-672, 2016. (26991897) |
| | Membrane metallo-endopeptidase
|
|
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| Charcot-Marie-Tooth disease, type 2X - (61) | 14.96 | | Montecchiani, C., Pedace, L., Lo Giudice, T., Casella, A., Mearini, M., Gaudiello, F., Pedroso, J. L., Terracciano, C., Caltagirone, C., Massa, R., St George-Hyslop, P. H., Barsottini, O. G. P., Kawarai, T., Orlacchio, A. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139: 73-85, 2016. (26556829) |
| | SPG11 vesicle trafficking associated, Spatacsin
|
|
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| Early-onset axonal Charcot-Marie-Tooth with ataxia - (AR) | 14.97 | | Pedroso J.L., Rocha C.R., Macedo-Souza L.I., et al. Mutation in
PNKP presenting initially as axonal Charcot-Marie-Tooth
disease. Neurol Genet 2015;1:e30. (27066567) |
| | polynucleotide kinase 3’-phosphatase
|
|
|
| Charcot-Marie-Tooth disease, axonal - (AR) | 14.98 | | Atkinson D., Nikodinovic Glumac J., Asselbergh B.,
Ermanoska B., Blocquel D., Steiner R., et al. Sphingosine
1-phosphate lyase deficiency causes Charcot-Marie-Tooth
neuropathy. Neurology. 2017 Feb 7;88(6):533-542. (28077491) |
| | Sphingosine-1-Phosphate Lyase 1
|
|
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| Charcot-Marie-Tooth disease, axonal, related to SCO2 - (AR) | 14.99 | | Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369. (29351582) |
| | Cytochrome c oxidase assembly protein
|
|
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| Charcot-Marie-Tooth disease, axonal; related to SACS - (AR) | 14.100 | | Souza PVS, Bortholin T, Naylor FGM, Pinto WBVR, Oliveira ASB. Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation. Neuromuscul Disord. 2018 Feb;28(2):169-172. doi: 10.1016/j.nmd.2017.11.008. Epub 2017 Nov 24. (29277257) |
| |
| Sorbitol dehydrogenase deficiency with peripheral neuropathy (CMT2 AR) - (AR) | 14.101 | | Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., and 41 others. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genet. 52: 473-481, 2020. Note: Erratum: Nature Genet. 52: 640 only, 2020. (32367058) |
| |
| Charcot-Marie-Tooth disease, axonal - (AR) | 14.102 | | Sedghi M, Moslemi AR, Cabrera-Serrano M, Ansari B, Ghasemi M, Baktashian M, Fattahpour A, Tajsharghi H. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Brain Commun. 2019 Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. PMID: 32954258; PMCID: PMC7425404. (32954258) |
| | Minichromosome maintenance 3-associated protein
|
|
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| Charcot-Marie-Tooth disease, axonal - (AR) | 14.103 | | Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ. A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease. J Clin Neurol. 2021 Oct;17(4):534-540. doi: 10.3988/jcn.2021.17.4.534. PMID: 34595861; PMCID: PMC8490901. (34595861) |
| | Beta-1,4-N-acetyl-galactosaminyl transferase 1
|
|
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| Charcot-Marie-Tooth disease, axonal - (AR) | 14.104 | | Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy. Eur J Neurol. 2022 Oct 19. doi: 10.1111/ene.15601 (36260368) |
| |
| Progressive neuropathy - (AR) | 14.105 | | Debs S, Ferreira CR, Groden C, Kim HJ, King KA, King MC, Lehky T, Cowen EW, Brown LH, Merideth M, Owen CM, Macnamara E, Toro C, Gahl WA, Soldatos A. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Am J Med Genet A. 2021 Jul;185(7):2102-2107. doi: 10.1002/ajmg.a.62245. Epub 2021 Jun 4. PMID: 34089226; PMCID: PMC8330494. (34089226) |
| | Phosphoserine Aminotransferase 1
|
|
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| Hereditary sensory and autonomic neuropathy, type IA - (AD) | 14.106 | | Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996 May;13(1):101-4. (11242106) | | Bejaoui, K.; Wu, C.; Scheffler, M. D.; Haan, G.; Ashby, P.; Wu, L.; de Jong, P.; Brown, R. H., Jr. : SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genet. 27: 261-262, 2001 (11242114) | | Dawkins, J. L.; Hulme, D. J.; Brahmbhatt, S. B.; Auer-Grumbach, M.; Nicholson, G. A. : Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genet. 27: 309-312, 2001. (8673084) |
| | Serine palmitoyltransferase subunit 1
|
|
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| Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux - (AD) | 14.107 | | Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003. (12870133) |
| |
| Hereditary sensory and autonomic neuropathy, type IC - (AD) | 14.108 | | Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Loscher, W., Vondracek, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., Timmerman, V. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am. J. Hum. Genet. 87: 513-522, 2010. (20920666) |
| | Serine palmitoyltransferase long chain base subunit 2
|
|
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| Hereditary sensory and autonomic neuropathy type IIA - (AR) | 14.109 | | Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA and Samuels ME. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73. (15060842) | | Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M and Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008;118:2496-505. (18521183) |
| | WNK lysine deficient protein kinase 1
|
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| Hereditary sensory and autonomic neuropathy type IIB - (AR) | 14.110 | | Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nurnberg, G., Nurnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hubner, C. A. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genet. 41: 1179-1181, 2009. (19838196) |
| | Family with sequence similarity 134 member B
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| Neuropathy, hereditary sensory and autonomic, type IID - (AR) | 14.111 | | Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013. (23596073) |
| | Sodium voltage-gated channel alpha subunit 9
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| Hereditary sensory and autonomic neuropathy type III - (AR) | 14.112 | | Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun;4(2):160-4. (8102296) |
| | Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
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| Hereditary sensory and autonomic neuropathy type IV - (AR) | 14.113 | | Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13: 485-488, 1996. (8696348) |
| | neurotrophic receptor tyrosine kinase 1
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| Hereditary sensory and autonomic neuropathy type V - (AR) | 14.114 | | Einarsdottir, E.; Carlsson, A.; Minde, J.; Toolanen, G.; Svensson, O.; Solders, G.; Holmgren, G.; Holmberg, D.; Holmberg, M. : A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum. Molec. Genet. 13: 799-805, 2004. (14976160) |
| | Nerve growth factor (beta polypeptide)
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| Hereditary sensory and autonomic neuropathy type VI - (AR) | 14.115 | | Edvardson S., Cinnamon Y., Jalas C., et al. Hereditary sensory
autonomic neuropathy caused by a mutation in dystonin.
Ann Neurol 2012;71:569–72. (22522446) |
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| Neuropathy, hereditary sensory and autonomic, type VII - (AD) | 14.116 | | Leipold, E., Liebmann, L., Korenke, G. C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R. O., Stodberg, T., Hennings, J. C., Bergmann, M., Altmuller, J., and 11 others. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature Genet. 45: 1399-1404, 2013. (24036948) |
| | Sodium voltage-gated channel alpha subunit 11
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| Hereditary sensory and autonomic neuropathy type VIII - (AR) | 14.117 | | Chen, Y.-C., Auer-Grumbach, M., Matsukawa, S., Zitzelsberger, M., Themistocleous, A. C., Strom, T. M., Samara, C., Moore, A. W., Cho, L. T.-Y., Young, G. T., Weiss, C., Schabhuttl, M., and 47 others. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genet. 47: 803-808, 2015. Note: Erratum: Nature Genet. 47: 962 only, 2015. (26005867) |
| | PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
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| Hereditary sensory neuropathy type ID - (AD) | 14.118 | | Guelly, C., Zhu, P.-P., Leonardis, L., Papic, L., Zidar, J., Schabhuttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., Willems, J., De Jonghe, P., Reilly, M. M., Frohlich, E., Hatz, M., Trajanoski, S., Pieber, T. R., Janecke, A. R., Blackstone, C., Auer-Grumbach, M. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88: 99-105, 2011 (21194679) |
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| Hereditary sensory neuropathy type IE - (AD) | 14.119 | | Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., and 12 others. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genet. 43: 595-600, 2011. (21532572) |
| | DNA (cytosine-5)-methyltransferase 1
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| Neuropathy, hereditary sensory, type IF - (AD) | 14.120 | | Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F. T., Pou-Serradell, A., Vilchez, J. J., and 11 others. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137: 683-692, 2014. (24459106) |
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| Hereditary sensory neuropathy, type IIC - (AD) | 14.121 | | Riviere, J.-B., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Gaudet, R., Mes-Masson, A.-M., and 11 others. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am. J. Hum. Genet. 89: 219-230, 2011. (21820098) |
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| Ataxia, posterior column, with retinitis pigmentosa (PCARP) - (AR) | 14.122 | | Rajadhyaksha, A. M., Elemento, O., Puffenberger, E. G., Schierberl, K. C., Xiang, J. Z., Putorti, M. L., Berciano, J., Poulin, C., Brais, B., Michaelides, M., Weleber, R. G., Higgins, J. J. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am. J. Hum. Genet. 87: 643-654, 2010. (21070897) |
| | Feline leukemia subgroup C receptor 1
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| Absence of pain, Congenital - (AR) | 14.123 | | Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain. 2015 Aug;138(Pt 8):2147-60. doi: 10.1093/brain/awv149. Epub 2015 Jun 11. (26068709) |
| | Clathrin, heavy polypeptide-like 1
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| Marssili syndrome (insensitivity to pain, congenital, AD) - (AD) | 14.124 | | Habib, A. M., Matsuyama, A., Okorokov, A. L., Santana-Varela, S., Bras, J. T., Aloisi, A. M., Emery, E. C., Bogdanov, Y. D., Follenfant, M., Gossage, S. J., Gras, M., Humphrey, J., and 21 others. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain 141: 365-376, 2018. (29253101) |
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| Erythromelalgia, Primary - (AD) | 14.125 | | Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7. Arch. Neurol. 62: 1587-1590, 2005. (16216943) | | Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy. Ann. Neurol. 71: 26-39, 2012. (21698661) |
| | Sodium voltage-gated channel alpha subunit 9
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| Episodic pain syndrome, familial 3 - (AD) | 14.126 | | Zhang, X. Y., Wen, J., Yang, W., Wang, C., Gao, L., Zheng, L. H., Wang, T., Ran, K., Li, Y., Li, X., Xu, M., Luo, J., Feng, S., Ma, X., Ma, H., Chai, Z., Zhou, Z., Yao, J., Zhang, X., Liu, J. Y. Gain-of-function mutations in SCN11A cause familial episodic pain. Am. J. Hum. Genet. 93: 957-966, 2013. (24207120) | | Huang, J., Han, C., Estacion, M., Vasylyev, D., Hoeijmakers, J. G., Gerrits, M. M., Tyrrell, L., Lauria, G., Faber, C. G., Dib-Hajj, S. D., Merkies, I. S. J., Waxman, S. G. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain 137: 1627-1642, 2014. (24776970) |
| | Sodium voltage-gated channel alpha subunit 11
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| Polyneuropathy with erythromelalgia - (AR) | 14.127 | | Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 Oct;320:112958. PMID: 31132363 (31132363) |
| | Nicotinamide nucleoside adenyltransferase 2
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| Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - (AR) | 14.128 | | Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920. PMID: 30926972; PMCID: PMC6709527. (30926972) |
| | Replication Factor C Subunit 1
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| Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR) | 14.129 | | Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA. Related Articles, Links The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet. 1996 Jan;58(1):28-34. (8554065) |
| | Potassium chloride cotransporter KCC3
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| Peripheral neuropathy and deafness, autosomal dominant - (AD) | 14.130 | | Lopez-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001 Apr 15;10(9):947-52. (11309368) |
| | Gap junction protein, beta 3, 31kDa (=connexin 31)
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| Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) - (AD) | 14.131 | | Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 1996 Apr;46(4):1128-32. (8780104) |
| |
| Giant axonal neuropathy-1 - (AR) | 14.132 | | Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1997 Sep;1(2):129-33. (10732815) | | Bomont, P.; Cavalier, L.; Blondeau, F.; Ben Hamida, C.; Belal, S.; Tazir, M.; Demir, E.; Topaloglu, H.; Korinthenberg, R.; Tuysuz, B.; Landrieu, P.; Hentati, F.; Koenig, M. : The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26: 370-374, 2000. (11062483) |
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| Giant axonal neuropathy-2 - (AD) | 14.133 | | Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology 82: 873-878, 2014. (24500646) |
| | DDB1 and CUL4 associated factor 8
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| Congenital cataracts, facial dysmorphism and neuropathy - (AR) | 14.134 | | Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochm²ºller H, M²ºllner-Eidenb²∂ck A, Merlini L, Neumann L, B²ºrger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21. (14517542) |
| | CTD phosphatase subunit 1
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| Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysgenesis - (AR) | 14.135 | | Gonzaga-Jauregui C, Lotze T, Jamal L, et al. Mutations in VRK1
Associated With Complex Motor and Sensory Axonal Neuropathy
Plus Microcephaly. JAMA Neurol 2013 (24126608) |
| | Vaccinia related kinase 1
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| Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (AR) | 14.136 | | Bouhouche A., Benomar N., Bouslam N. Autosomal recessive
mutilating sensory neuropathy with spastic paraplegia maps to
chromosome 5p12.31-14.1. Eur J Hum Genet 2006a;14:249–
52. (16333315) | | Bouhouche A., Benomar N., Bouslam N. Mutation in the epsilon
subunit of the cytosolic chaperonin-containing t-complex
peptide-1 (Cct5) gene causes autosomal recessive mutilating
sensory neuropathy with spastic paraplegia. J Med Genet
2006b;43:441–3. (16399879) |
| | Chaperonin containing TCP1 subunit 5
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| Neuronal intranuclear inclusion diseases - (AD) | 14.137 | | Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. PMID:31332380 (31178126) | | Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. PMID: 31178126 (31332380) | | Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019 Aug;51(8):1215-1221. (31332381) |
| | Notch2 N-terminal-like protein
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| Hereditary peripheral neuropathy (CMT ?) - (AD) | 14.138 | | Song GJ, Gupta DP, Rahman MH, et al. Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system. Glia. 2020;68(9):1794-1809. doi:10.1002/glia.23805 (32077526) |
| | Solute carrier family 9, member 3, regulator 1
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| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - (AR, AD) | 14.139 | | Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. PMID: 32738225; PMCID: PMC7413890. (32738225) |
| | Asparaginyl-tRNA Synthetase 1
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| Myopathy, Congenital, With Neuropathy And Deafness - (AR) | 14.140 | | Knierim, E., Gill, E., Seifert, F., Morales-Gonzalez, S., Unudurthi, S. D., Hund, T. J., Stenzel, W., Schuelke, M. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum. Genet. 136: 903-910, 2017. (28540413) |
| | Spectrin, Beta, Nonerythrocytic, 4
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