| H00798 | |
| H number | H00798 |
| Name | Familial carpal tunnel syndrome |
| Description | Carpal tunnel syndrome is an entrapment neuropathy of the median nerve characterized by paresthesias in the district of the median nerve. Familial carpal tunnel syndrome is an extremely rare form with bilateral symptom that is frequently associated with inherited systemic disorders such as mucopolysaccharidosis, mucolipidosis, amyloidosis, collagen vascular disease or hereditary liability to pressure palsies. The cause of the disease is the compression of the median nerve by thickened transverse carpal ligament. Mutations in transthyretin, a gene that plays a role in deposition of amyloid, have been reported. |
| Category | Nervous system disease |
| Network | - |
| Gene | (CTS1) TTR [HSA:7276] [KO:K20731] (CTS2) COMP [HSA:1311] [KO:K04659] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C10.0 ICD-10: G56.0 MeSH: D002349 OMIM: 115430 619161 |
| Reference | PMID:9052822 AUTHORS Vadasz AG, Chance PF, Epstein LG, Lou JS TITLE Familial autosomal-dominant carpal tunnel syndrome presenting in a 5-year-old-case report and review of the literature. JOURNAL Muscle Nerve 20:376-8 (1997) DOI:10.1002/(SICI)1097-4598(199703)20:3<376::AID-MUS20>3.0.CO;2-Y PMID:9831348 AUTHORS Stoll C, Maitrot D TITLE Autosomal dominant carpal tunnel syndrome. JOURNAL Clin Genet 54:345-8 (1998) DOI:10.1034/j.1399-0004.1998.5440414.x PMID:19756731 AUTHORS Senel S, Ceylaner G, Yuksel D, Erkek N, Karacan C TITLE Familial primary carpal tunnel syndrome with possible skipped generation. JOURNAL Eur J Pediatr 169:453-5 (2010) DOI:10.1007/s00431-009-1055-4 PMID:8309582 (CTS1) AUTHORS Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M TITLE Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. JOURNAL Neurology 44:315-8 (1994) DOI:10.1212/WNL.44.2.315 PMID:32686688 (CTS2) AUTHORS Li C, Wang N, Schaffer AA, Liu X, Zhao Z, Elliott G, Garrett L, Choi NT, Wang Y, Wang Y, Wang C, Wang J, Chan D, Su P, Cui S, Yang Y, Gao B TITLE Mutations in COMP cause familial carpal tunnel syndrome. JOURNAL Nat Commun 11:3642 (2020) DOI:10.1038/s41467-020-17378-z |