KEGG DISEASE: Hereditary neuralgic amyotrophy

KEGG

DISEASE: Hereditary neuralgic amyotrophy

Entry

H01131                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Disorders of nerve root, plexus or peripheral nerves
   Hereditary neuropathy
    8C20  Hereditary motor and sensory neuropathy
     H01131  Hereditary neuralgic amyotrophy

Gene

SEPT9 [HSA:10801] [KO:K16938]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

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

LinkDB

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