Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Torsion dystonia 1, early onset - (AD) | 17.1 | | Ozelius, L. J.; Hewett, J. W.; Page, C. E.; Bressman, S. B.; Kramer, P. L.; Shalish, C.; de Leon, D.; Brin, M. F.; Raymond, D.; Corey, D. P.; Fahn, S.; Risch, N. J.; Buckler, A. J.; Gusella, J. F.; Breakefield, X. O. : The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17: 40-48, 1997. (10541594) | | Ikeuchi, T.; Shimohata, T.; Nakano, R.; Koide, R.; Takano, H.; Tsuji, S. : A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2: 189-190, 1999. (9288096) |
| |
| Myoclonic dystonia 11 - (AD) | 17.2 | | Klein, C.; Schilling, K.; Saunders-Pullman, R. J.; Garrels, J.; Breakefield, X. O.; Brin, M. F.; deLeon, D.; Doheny, D.; Fahn, S.; Fink, J. S.; Forsgren, L.; Friedman, J.; and 20 others : A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am. J. Hum. Genet. 67: 1314-1319, 2000. (11528394) | | Zimprich, A.; Grabowski, M.; Asmus, F.; Naumann, M.; Berg, D.; Bertram, M.; Scheidtmann, K.; Kern, P.; Winkelmann, J.; Muller-Myhsok, B.; Riedel, L.; Bauer, M.; Muller, T.; Castro, M.; Meitinger, T.; Strom, T. M.; Gasser, T. : Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet. 29: 66-69, 2001. (1102201) | | Tezenas du Montcel, S.; Clot, F.; Vidailhet, M.; Roze, E.; Damier, P.; Jedynak, C. P.; Camuzat, A.; Lagueny, A.; Vercueil, L.; Doummar, D.; Guyant-Marechal, L.; Houeto, J.-L.; and 10 others : Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J. Med. Genet. 43: 394-400, 2006. (16227522) |
| |
| Hereditary neuropathy, sensory and autonomic (Riley-Day syndrome) - (AR) | 17.3 | | 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
|
|
|
| Hereditary amyloidosis transthyretin-related - (AD) | 17.4 | | Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8. (6651852) | | Saraiva, M. J. M. : Transthyretin mutations in health and disease. Hum. Mutat. 5: 191-196, 1995. (7599630) |
| | Transthyretin (prealbumin, amyloidosis type I)
|
|
|
| Fibrosis of extraocular muscles, congenital, 1 - (AD) | 17.5 | | Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May;7(1):69-73. (15621876) | | Tiab, L.; d'Alleves Manzi, V.; Borruat, F.-Z.; Munier, F. L.; Schorderet, D. F. : Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthal. Genet. 25: 241-246, 2004. (8075644) |
| | Kinesin family member 21A
|
|
|
| Fibrosis of extraocular muscles, congenital, 2 - (AR) | 17.6 | | Wang, S. M.; Zwaan, J.; Mullaney, P. B.; Jabak, M. H.; Al-Awad, A.; Beggs, A. H.; Engle, E. C. : Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am. J. Hum. Genet. 63: 517-525, 1998. (9683611) | | Nakano, M.; Yamada, K.; Fain, J.; Sener, E. C.; Selleck, C. J.; Awad, A. H.; Zwaan, J.; Mullaney, P. B.; Bosley, T. M.; Engle, E. C. : Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genet. 29: 315-320, 2001. (11600883) |
| | Paired-like aristaless homeobox protein 2A
|
|
|
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement - (AD) | 17.7 | | Doherty, E. J.; Macy, M. E.; Wang, S. M.; Dykeman, C. P.; Melanson, M. T.; Engle, E. C. : CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest. Ophthal. Vis. Sci. 40: 1687-1694, 1999. (10393037) | | Tischfield, M. A., Baris, H. N., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W.-M., Andrews, C., Demer, J. L., Robertson, R. L., Mackey, D. A., Ruddle, J. B., and 37 others Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 140: 74-87, 2010. (20074521) |
| |
| 17.8 | | Shinwari, J. M. A., Khan, A., Awad, S., Shinwari, Z., Alaiya, A., Alanazi, M., Tahir, A., Poizat, C., Al Tassan, N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am. J. Hum. Genet. 96: 147-152, 2015. (25500261) |
| | Collagen, type XXV, alpha-1
|
|
|
| Arthrogryposis, distal, type 1A - (AD) | 17.9 | | Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. (12592607) |
| |
| Arthrogryposis, distal, type 1B - (AD) | 17.10 | | Gurnett, C. A., Desruisseau, D. M., McCall, K., Choi, R., Meyer, Z. I., Talerico, M., Miller, S. E., Ju, J.-S., Pestronk, A., Connolly, A. M., Druley, T. E., Weihl, C. C., Dobbs, M. B. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Molec. Genet. 19: 1165-1173, 2010. (20045868) |
| | Myosin-binding proteinC, slow type
|
|
|
| Arthrogryposis, distal, type 2A, Freeman-Sheldon syndrome - (AD) | 17.11 | | Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565 (16642020) |
| | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
|
| Arthrogryposis, distal, type 2B1, Sheldon-Hall syndrome - (AD) | 17.12 | | Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. (12592607) | | Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology. 2006 Aug 22;67(4):597-601. (16924011) |
| |
| Arthrogryposis, distal, type 2B2 - (AD) | 17.13 | | Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003 Jul;73(1):212-4. (12865991) |
| |
| Arthrogryposis, distal, type 2B3 - (AD) | 17.14 | | Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565 (16642020) |
| | Myosine, heavy chain 3, skeletal muscle, embryonic
|
|
|
| Arthrogryposis, distal, type 2B4 - (AD) | 17.15 | | Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a ²ü-tropomyosin mutation. Neurology 2007c;68:772-775. (17339586) | | Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, Larsson L. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol 2007;581:1283-1292. (17430991) |
| |
| Arthrogryposis, distal, type 3 - (AD) | 17.16 | | McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M. I., Aylsworth, A. S., Bitoun, P., Carey, J. C., Clericuzio, C. L., Crow, Y. J., and 34 others. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am. J. Hum. Genet. 94: 734-744, 2014. (24726473) |
| | Piezo-type mechanosensitive ion channel component 2
|
|
|
| Arthrogryposis, distal, type 5 - (AD) | 17.17 | | Coste, B., Houge, G., Murray, M. F., Stitziel, N., Bandell, M., Giovanni, M. A., Philippakis, A., Hoischen, A., Riemer, G., Steen, U., Steen, V. M., Mathur, J., Cox, J., Lebo, M., Rehm, H., Weiss, S. T., Wood, J. N., Maas, R. L., Sunyaev, S. R., Patapoutian, A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proc. Nat. Acad. Sci. 110: 4667-4672, 2013. (23487782) |
| | Piezo-type mechanosensitive ion channel component 2
|
|
|
| Arthrogryposis, distal, type 5D - (AR) | 17.18 | | McMillin, M. J., Below, J. E., Shively, K. M., Beck, A. E., Gildersleeve, H. I., Pinner, J., Gogola, G. R., Hecht, J. T., Grange, D. K., Harris, D. J., Earl, D. L., Jagadeesh, S., and 9 others. : Mutations in ECEL1 cause distal arthrogryposis type 5D. Am. J. Hum. Genet. 92: 150-156, 2013. (23261301) |
| | Endothelin-converting enzyme like 1
|
|
|
| Arthrogryposis, distal, type 7 (Trismus- pseudocamptodactyly syndrome) - (AD) | 17.19 | | Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004;351:460-469. (15282353) | | Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006;140: 2387-2393. (17041932) |
| | Myosin heavy chain, 8, skeletal muscle, perinatal
|
|
|
| Arthrogryposis, distal, type 10 - (AD) | 17.20 | | Stevenson, D. A., Swoboda, K. J., Sanders, R. K., Bamshad, M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am. J. Med. Genet. 140A: 2797-2801, 2006. (17103435) |
| |
| Arthrogryposis, distal type 11 - (AD) | 17.21 | | Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. MET mutation causes muscular dysplasia and arthrogryposis. EMBO Mol Med. 2019 Mar;11(3). pii: e9709. doi: 10.15252/emmm.201809709. (30777867) |
| |
| Arthrogryposis, distal type 12 - (AR) | 17.22 | | Boschann, F., Cogulu, M. O., Pehlivan, D., Balachandran, S., Vallecillo-Garcia, P., Grochowski, C. M., Hansmeier, N. R., Coban Akdemir, Z. H., Prada-Medina, C. A., Aykut, A., Fischer-Zirnsak, B., Badura, S., and 12 others. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet. Med. 24: 2187-2193, 2022. [PubMed: 35962790, images, related citations] [Full Text] (35962790) |
| | A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15
|
|
|
| Arthrogryposis multiplex congenita with nesprin-1 defect - (AR) | 17.23 | | Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z and Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009;18:3462-9. (19542096) |
| | Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
|
| Arthrogryposis and BICD2-related neuromuscular disease - (AD) | 17.24 | | Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. PMID:28635954. PMCID:PMC5558181 (28635954) |
| | Bicaudal D homolog 2 (Drosophila)
|
|
|
| Arthrogryposis related to ASCC1 - (AR) | 17.25 | | Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J Med Genet. 2019 Sep;56(9):617-621. doi: 10.1136/jmedgenet-2018-105390. Epub 2018 Oct 16. PubMed PMID: 30327447. (30327447) |
| | Activating signal cointegrator 1 complex subunit 1
|
|
|
| Arthrogryposis multiplex congenita 7, X-linked - (XLR) | 17.26 | | Tamhankar, V., Tamhankar, P., Chaubal, R., Chaubal, J., Chaubal, N. Novel consensus splice site pathogenic variation in THOC2 gene leads to recurrent arthrogryposis multiplex congenita phenotype: a case report. Cureus 13: e19682, 2021. (34976470) | | Dubucs, C., Rendu, J., Michel-Calemard, L., Menassa, R., Langeois, M., Nicaise, Y., Ousselin, J., Aziza, J., Uro-Coste, E. Muscular phenotype description of abnormal THOC2 splicing. Neuromusc. Disord. 33: 978-982, 2023. (37945483) |
| |
| Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR) | 17.27 | | Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., and 40 others. Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis. Am. J. Hum. Genet. 105: 689-705, 2019. (31495489) |
| | Sphingomyelin phosphodiesterase 4, neutral membrane
|
|
|
| Fetal akinesia deformation sequence 1 - (AR) | 17.28 | | Tan-Sindhunata, M. B., Mathijssen, I. B., Smit, M., Baas, F., de Vries, J. I., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E., Meijers-Heijboer, H., Waisfisz, Q., Weiss, M. M., Groffen, A. J. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Europ. J. Hum. Genet. 23: 1151-1157, 2015. (25537362) |
| | Muscle, skeletal, receptor tyrosine kinase
|
|
|
| Fetal akinesia deformation sequence 3 - (AR) | 17.29 | | Vogt, J., Harrison, B. J., Spearman, H., Cossins, J., Vermeer, S., ten Cate, L. N., Morgan, N. V., Beeson, D., Maher, E. R. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am. J. Hum. Genet. 82: 222-227, 2008 (18179903) |
| |
| Fetal akinesia deformation sequence 2 - (AR) | 17.30 | | Vogt, J., Morgan, N. V., Marton, T., Maxwell, S., Harrison, B. J., Beeson, D., Maher, E. R. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J. Med. Genet. 46: 338-340, 2009. (19261599) |
| |
| Fetal akinesia deformation sequence 4 - (AR) | 17.31 | | Bonnin, E., Cabochette, P., Filosa, A., Juhlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., and 14 others. Bilallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 14: e1007845, 2018. Note: Electronic Article. [PubMed: 30543681 (30543681) |
| |
| Fetal akinesia deformation sequence related to RYR1 - (AR) | 17.32 | | Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 Nov;126(Pt 11):2341-9. Epub 2003 Aug 22. (12937085) | | McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. PubMed PMID: 25476234; PubMed Central PMCID: PMC4271450. (25476234) | | Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. PubMed PMID: 30652412. (30652412) |
| | Ryanodine receptor 1 (skeletal)
|
|
|
| Fetal akinesia deformation related to AGRN - (AR) | 17.33 | | Geremek M, Dudarewicz L, Obersztyn E, et al. Null variants in AGRN cause lethal fetal akinesia deformation sequence. Clin Genet. 2020;97(4):634-638. doi:10.1111/cge.13677 (31730230) |
| |
| Severe foetal hypokinesia related to SCN4A - (AR) | 17.34 | | Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. PubMed PMID: 26700687; PubMed Central PMCID: PMC4766374. (26700687) |
| | Sodium channel, voltage-gated, type IV, alpha
|
|
|
| Spectraplakinopathy - (AR) | 17.35 | | Kang L, Liu Y, Jin Y, Li M, Song J, Zhang Y, Zhang Y, Yang Y. Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy. Front Neurol. 2020 Jan 15;10:1335. doi: 10.3389/fneur.2019.01335. eCollection 2019. (32010038) |
| | Microtubule-actin cross-linking factor 1
|
|
|
| Segmental amyoplasia with Distal Arthrogryposis - (AD) | 17.36 | | Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics, Amacher SL, Bamshad MJ. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. PMID: 32707087; PMCID: PMC7413889. (32707087) |
| | Myosin Light Chain Phosphorylatable Fast Skeletal Muscle
|
|
|
| Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD) | 17.37 | | Mercier, S., Kury, S., Shaboodien, G., Houniet, D. T., Khumalo, N. P., Bou-Hanna, C., Bodak, N., Cormier-Daire, V., David, A., Faivre, L., Figarella-Branger, D., Gherardi, R. K., and 18 others. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am. J. Hum. Genet. 93: 1100-1107, 2013. (24268661) |
| | Family with sequence similarity 111 member B
|
|
|
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - (AR) | 17.38 | | Shamseldin H.E., Smith L.L., Kentab A., et al. Mutation of the
mitochondrial carrier SLC25A42 causes a novel form of
mitochondrial myopathy in humans. Hum Genet 2015;
135:21–30. (26541337) |
| | Solute carrier family 25 member 42
|
|
|
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - (AR) | 17.39 | | Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-1086. (15877282) |
| | Succinate-CoA ligase, ADP-forming, beta subunit
|
|
|
| Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - (AR) | 17.40 | | Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-780. (17486094) |
| | Ribonucleotide reductase M2 B (TP53 inducible)
|
|
|
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) - (AR) | 17.41 | | Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-780. (17486094) |
| | Ribonucleotide reductase M2 B (TP53 inducible)
|
|
|
| Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - (AR) | 17.42 | | Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 81: 383-387, 2007. (17668387) |
| | Succinate-CoA ligase, alpha subunit
|
|
|
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - (AR) | 17.43 | | Bonnen, P. E., Yarham, J. W., Besse, A., Wu, P., Faqeih, E. A., Al-Asmari, A. M., Saleh, M. A. M., Eyaid, W., Hadeel, A., He, L., Smith, F., Yau, S., and 10 others. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am. J. Hum. Genet. 93: 471-481, 2013. Note: Erratum: Am. J. Hum. Genet. 93: 773 only, 2013. (23993193) | | Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., and 28 others. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93: 482-495, 2013. (23993194) |
| | F-box and leucine-rich repeat protein 4
|
|
|
| Combined Oxidative phosphorylation Deficiency 6 - (XL) | 17.44 | | Morton S.U., Prabhu S.P., Lidov H.G.W., Shi J.,
Anselm I., Brownstein C.A., et al. AIFM1 mutation presenting
with fatal encephalomyopathy and mitochondrial disease in an
infant. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2):
a001560. doi: 10.1101/mcs.a001560. (28299359) |
| | Apoptosis-inducing factor, Mitochondria-associated 1
|
|
|
| Combined oxidative phosphorylation deficiency 44 - (AR) | 17.45 | | Yoo D.H., Choi Y.C., Nam D.E., Choi S.S., Kim J.W., Choi
B.O., et al. Identification of FASTKD2 compound heterozygous
mutations as the underlying cause of autosomal recessive
MELAS-like syndrome. Mitochondrion. 2017 Jul;35:54-58.
doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9. (28499982) |
| |
| Combined oxidative phosphorylation deficiency 48 - (AR) | 17.46 | | Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. PMID: 27356879; PMCID: PMC4931328. (27356879) |
| | NOP2/SUN RNA Methyltransferase Family Member 3
|
|
|
| Combined oxidative phosphorylation deficiency 50 - (AR) | 17.47 | | Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann A, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Apr 30. pii: ddz093. doi: 10.1093/hmg/ddz093. (31039582) |
| | Mitochondrial ribosomal protein S25
|
|
|
| Coenzyme Q10 deficiency 1 - (AR) | 17.48 | | Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., Hirano, M. A mutation in Para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am. J. Hum. Genet. 78: 345-349, 2006. (16400613) |
| |
| Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - (AR) | 17.49 | | Lagier-Tourenne C, Tazir M, L²≥pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008 Mar;82(3):661-72. (18319072) | | Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, R²∂tig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. (18319074) |
| |
| Coenzyme Q10 deficiency 5 - (AR) | 17.50 | | Rahman, S., Hargreaves, I., Clayton, P., Heales, S. Neonatal presentation of coenzyme Q10 deficiency. J. Pediat. 139: 456-458, 2001. [PubMed: 11562630 (11562630) | | Duncan, A. J., Bitner-Glindzicz, M., Meunier, B., Costello, H., Hargreaves, I. P., Lopez, L. C., Hirano, M., Quinzii, C. M., Sadowski, M. I., Hardy, J., Singleton, A., Clayton, P. T., Rahman, S. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am. J. Hum. Genet. 84: 558-566, 2009. [PubMed: 19375058 (19375058) |
| |
| Coenzyme Q10 deficiency 6 - (AR) | 17.51 | | Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., Killen, P. D., Raphael, Y., and 44 others. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121: 2013-2024, 2011. (21540551) |
| |
| Coenzyme Q10 deficiency 7 - (AR) | 17.52 | | Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Burgi, S., Graf, E., Ahting, U., and 18 others. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96: 309-317, 2015. (25658047) |
| |
| Coenzyme Q10 deficiency 8 - (AR) | 17.53 | | Freyer, C., Stranneheim, H., Naess, K., Mourier, A., Felser, A., Maffezzini, C., Lesko, N., Bruhn, H., Engvall, M., Wibom, R., Barbaro, M., Hinze, Y., Magnusson, M., Andeer, R., Zetterstrom, R. H., von Dobeln, U., Wredenberg, A., Wedell, A. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J. Med. Genet. 52: 779-783, 2015. (26084283) |
| |
| Mitochondrial DNA depletion syndrome 20 (MNGIE type) - (AR) | 17.54 | | Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352. (33855352) |
| | Ligase III DNA ATP-Dependent
|
|
|
