Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Torsion dystonia 1, early onset - (AD) | 16.1 | | 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) | 16.2 | | 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) | 16.3 | | 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) | 16.4 | | 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) | 16.5 | | 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) | 16.6 | | 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) | 16.7 | | 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) |
| |
| 16.8 | | 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) | 16.9 | | 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) | 16.10 | | 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) | 16.11 | | 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) | 16.12 | | 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) | 16.13 | | 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) | 16.14 | | 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) | 16.15 | | 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) | 16.16 | | 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) | 16.17 | | 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) | 16.18 | | 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) | 16.19 | | 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) | 16.20 | | 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) | 16.21 | | 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) | 16.22 | | 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) | 16.23 | | 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) | 16.24 | | 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) | 16.25 | | 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
|
|
|
| Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR) | 16.26 | | 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) | 16.27 | | 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) | 16.28 | | 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) | 16.29 | | 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) | 16.30 | | 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) | 16.31 | | 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) | 16.32 | | 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) | 16.33 | | 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
|
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 - (AD) | 16.34 | | Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. (11431686) |
| | Polymerase (DNA directed), gamma
|
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 - (AD) | 16.35 | | Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-785 (10926541) |
| | Mitochondrial carrier; adenine nucleotide translocator
|
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 - (AD) | 16.36 | | Suomalainen, A.; Majander, A.; Wallin, M.; Setala, K.; Kontula, K.; Leinonen, H.; Salmi, T.; Paetau, A.; Haltia, M.; Valanne, L.; Lonnqvist, J.; Peltonen, L.; Somer, H. : Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48: 1244-1253, 1997. (11431692) | | Spelbrink, J. N.; Li, F.-Y.; Tiranti, V.; Nikali, K.; Yuan, Q.-P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; Santoro, L.; Toscano, A.; and 9 others : Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28: 223-231, 2001. (9153451) |
| |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 - (AD) | 16.37 | | Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-1034 (16685652) |
| | Mitochondrial DNA polymerase, accessory subunit
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5 - (AD) | 16.38 | | Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G., Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85: 290-295, 2009. (19664747) |
| | Ribonucleotide reductase M2 B (TP53 inducible)
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - (AD) | 16.39 | | Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferro, M. T., Ranieri, M., and 10 others. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am. J. Hum. Genet. 92: 293-300, 2013. (23352259) |
| | DNA replication helicase 2
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - (AR) | 16.40 | | Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D. M., Zierz, S., Taylor, R. W. MELAS associated with mutations in the POLG1 gene. Neurology 68: 1741-1742, 2007. (17502560) |
| | Polymerase (DNA directed), gamma
|
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - (AR) | 16.41 | | Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18.
(26094573) |
| |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - (AR) | 16.42 | | Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L., Suomalainen, A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum. Molec. Genet. 21: 66-75, 2012. (21937588) |
| | Thymidine kinase 2, mitochondrial
|
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| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - (AR) | 16.43 | | Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., DiMauro, S., Comi, G. P., Sciacco, M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 135: 3404-3415, 2012. (23043144) |
| |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - (AR) | 16.44 | | Nicholls, T. J., Nadalutti, C. A., Motori, E., Sommerville, E. W., Gorman, G. S., Basu, S., Hoberg, E., Turnbull, D. M., Chinnery, P. F., Larsson, N.-G., Larsson, E., Falkenberg, M., Taylor, R. W., Griffith, J. D., Gustafsson, C. M. Topoisomerase 3-alpha is required for decatenation and segregation of human mtDNA. Molec. Cell 69: 9-23, 2018. (29290614) |
| |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) - (AR) | 16.45 | | Nishino, I., Spinazzola, A., Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692, 1999. (9924029) |
| |
| Mitochondrial DNA depletion syndrome 2 (myopathic type) - (AR) | 16.46 | | Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344. (11687801) |
| | Thymidine kinase 2, mitochondrial
|
|
|
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - (AR) | 16.47 | | Mandel, H., Szargel, R., Labay, V., Elpeleg, O., Saada, A., Shalata, A., Anbinder, Y., Berkowitz, D., Hartman, C., Barak, M., Eriksson, S., Cohen, N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. Note: Erratum: Nature Genet. 29: 491 only, 2001. (11687800) |
| |
| Mitochondrial DNA depletion syndrome 4A (Alpers type) - (AR) | 16.48 | | Naviaux, R. K., Nguyen, K. V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 55: 706-712, 2004. (15122711) | | Nguyen, K. V., Ostergaard, E., Ravn, S. H., Balslev, T., Danielsen, E. R., Vardag, A., McKiernan, P. J., Gray, G., Naviaux, R. K. POLG mutations in Alpers syndrome. Neurology 65: 1493-1495, 2005. (16177225) |
| | Polymerase (DNA directed), gamma
|
|
|
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) - (AR) | 16.49 | | Van Goethem, G., Schwartz, M., Lofgren, A., Dermaut, B., Van Broeckhoven, C., Vissing, J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Europ. J. Hum. Genet. 11: 547-549, 2003. (12825077) |
| | Polymerase (DNA directed), gamma
|
|
|
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - (AR) | 16.50 | | 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) | 16.51 | | 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) | 16.52 | | 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) | 16.53 | | 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 11 - (AR) | 16.54 | | Kornblum, C., Nicholls, T. J., Haack, T. B., Scholer, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., and 13 others. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nature Genet. 45: 214-219, 2013. (23313956) |
| | Mitochondrial genome maintenance exonuclease 1
|
|
|
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - (AD) | 16.55 | | Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., and 16 others. Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am. J. Hum. Genet. 99: 860-876, 2016. Note: Erratum: Am. J. Hum. Genet. 99: 1405 only, 2016. (27693233) |
| | Mitochondrial carrier; adenine nucleotide translocator
|
|
|
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - (AR) | 16.56 | | Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum. Molec. Genet. 14: 3079-3088, 2005. (16155110) |
| | Mitochondrial carrier; adenine nucleotide translocator
|
|
|
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - (AR) | 16.57 | | 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
|
|
|
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - (AR) | 16.58 | | Spiegel, R., Saada, A., Flannery, P. J., Burte, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., Shaag, A., Mandel, H., Schuler-Furman, O., Shalev, S. A., Elpeleg, O., Yu-Wai-Man, P. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J. Med. Genet. 53: 127-131, 2016. (26561570) |
| |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - (AR) | 16.59 | | 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
|
|
|
| Optic atrophy with or without deafness, ophtalmoplegia, myopathy, ataxia and neuropathy - (AD) | 16.60 | | Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissi²®re A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Mart²≠n MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24. (18065439) | | Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7. (18158317) |
| |
| Myopathy, lactic acidosis, and sideroblastic anemia 1 - (AR) | 16.61 | | Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74: 1303-1308, 2004. (15108122) |
| | Pseudouridylate synthase 1
|
|
|
| Myopathy, lactic acidosis, and sideroblastic anemia-2 - (AR) | 16.62 | | Riley, L. G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S. C., Thorburn, D., Ryan, M. T., Giege, R., Bahlo, M., Christodoulou, J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am. J. Hum. Genet. 87: 52-59, 2010. (20598274) |
| | Tyrosyl-tRNA synthetase 2, mitochondrial
|
|
|
| Isolated mitochondrial myopathy - (AD) | 16.63 | | Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 2014 Sep 6. (25193783) |
| | Coiled-coil-helix-coiled-coil-helix domain containing 10
|
|
|
| Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - (AD) | 16.64 | | 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
|
|
|
| Combined Oxidative phosphorylation Deficiency 6 - (XL) | 16.65 | | 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 43 - (AR) | 16.66 | | Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305. (30452684) |
| | Translocase of inner mitochondrial membrane 22
|
|
|
| Combined oxidative phosphorylation deficiency 44 - (AR) | 16.67 | | 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) | 16.68 | | 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) | 16.69 | | 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
|
|
|
| Mitochondrial complex IV deficiency, nuclear type 18 - (AR) | 16.70 | | Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25517. (31155743) |
| | Cytochrome c-oxidase, subunit 6A2
|
|
|
| Mitochondrial myopathy with severe neurological manifestations - (AR) | 16.71 | | Nazli A., Safdar A., Saleem A., Akhtar M., Brady L.I.,
Schwartzentruber J., et al. A mutation in the TMEM65 gene
results in mitochondrial myopathy with severe neurological
manifestations. Eur J Hum Genet. 2017 Jun;25(6):744-751. doi:
10.1038/ejhg.2017.20. Epub 2017 Mar 15. (28295037) |
| |
| Infantile-onset multisystem disease with progressive muscle weakness - (AR) | 16.72 | | Hu H., Matter M.L., Issa-Jahns L., Jijiwa M., Kraemer N.,
Musante L., et al. Mutations in PTRH2 cause novel infantileonset
multisystem disease with intellectual disability,
microcephaly, progressive ataxia, and muscle weakness. Ann.
Clin. Transl. Neurol. 1: 1024-1035, 2014. (25574476) |
| | Peptidyl-tRNA Hydrolase 2
|
|
|
| Myopathy, mitochondrial and cerebellar ataxia - (AR) | 16.73 | | Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. (28544275) | | Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27. (31130378) | | Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z. (31463572) |
| | Misato homolog 1 (Drosophila)
|
|
|
| Coenzyme Q10 deficiency 1 - (AR) | 16.74 | | 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) | 16.75 | | 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) | 16.76 | - | |
| Coenzyme Q10 deficiency 6 - (AR) | 16.77 | | 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) | 16.78 | | 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) | 16.79 | | 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 myopathy, episodic with or withour atrophy and reversible leukoencephalopathy - (AR) | 16.80 | | Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. (30010796) |
| |
| Spectraplakinopathy - (AR) | 16.81 | | 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
|
|
|
| Mitochondrial complex I deficiency, nuclear type 29 - (AR) | 16.82 | | Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., and 19 others. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99: 217-227, 2016. [PubMed: 27374774, (27374773) | | Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M. D., Rio, M., Funalot, B., van den Brand, M. A. M., Guerrero-Castillo, S., Molenaar, J. P., Koolen, D., Brandt, U., Rodenburg, R. J., Nijtmans, L. G., Rotig, A. Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency. Am. J. Hum. Genet. 99: 208-216, 2016. PubMed: 27374773, (27374774) |
| | Transmembrane protein 126B
|
|
|
| Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (XL) | 16.83 | | Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, J Whitworth A, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. PMID: 32439808; PMCID: PMC7116790. (32439808) |
| |
| Segmental amyoplasia with Distal Arthrogryposis - (AD) | 16.84 | | 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
|
|
|
| Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - (AR) | 16.85 | | Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. PMID: 19409522; PMCID: PMC2681006. (19409522) |
| |
| Mitochondrial DNA depletion syndrome 20 (MNGIE type) - (AR) | 16.86 | | 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
|
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| Mitochondrial complex IV deficiency, nuclear type 22 - (AR) | 16.87 | | Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. PMID: 33169484; PMCID: PMC7898715. (33169484) |
| | Cytochrome c Oxidase Assembly Factor 16
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| Mitochondrial myopathy related to SLC25A26 - (AR) | 16.88 | | Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. PMID: 35024855; PMCID: PMC9239748. (35024855) |
| | Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26
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| Mitochondrial myopathy and multiple mtDNA deletions - (AR) | 16.89 | | Nasca A, Legati A, Meneri M, Ermert ME, Frascarelli C, Zanetti N, Garbellini M, Comi GP, Catania A, Lamperti C, Ronchi D, Ghezzi D. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. Cells. 2022 Mar 12;11(6):974. doi: 10.3390/cells11060974. PMID: 35326425; PMCID: PMC8946636. (35326425) |
| | Endonuclease G, mitochondrial
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