H01131 | |
H number | H01131 |
Name | Hereditary neuralgic amyotrophy; Hereditary brachial plexus neuropathy |
Description | Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory loss. HNA is triggered by environmental factors such as infection or parturition. It has been reported that HNA is caused by mutations in the gene septin 9. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis. |
Category | Nervous system disease |
Network | - |
Gene | SEPT9 [HSA:10801] [KO:K16938] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8C20.Y ICD-10: G54.5 MeSH: D020968 OMIM: 162100 |
Reference | PMID:16186812 AUTHORS Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF TITLE Mutations in SEPT9 cause hereditary neuralgic amyotrophy. JOURNAL Nat Genet 37:1044-6 (2005) DOI:10.1038/ng1649 |