KEGG DISEASE: Autosomal recessive neuromyotonia and axonal neuropathy

KEGG

DISEASE: Autosomal recessive neuromyotonia and axonal neuropathy

Entry

H02390                      Disease

Name

Autosomal recessive neuromyotonia and axonal neuropathy

Description

Autosomal recessive neuromyotonia and axonal neuropathy (NMAN) is a syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration. It has been reported that loss-of-function mutations in HINT1 cause this disease. HINT1 ubiquitously expressed in mammalian tissues, and it is a tumor suppressor that participates in several apoptotic pathways.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C71  Myotonic disorders
     H02390  Autosomal recessive neuromyotonia and axonal neuropathy

Gene

HINT1 [HSA:3094] [KO:K02503]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

GAMSTORP I, WOHLFART G

Title

A syndrome characterized by myokymia, myotonia, muscular wasting and increased perspiration.

Journal

Acta Psychiatr Neurol Scand 34:181-94 (1959)
DOI:10.1111/j.1600-0447.1959.tb07573.x

Reference

Authors

Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloglu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Muller T, Fransen E, Van Damme P, Loscher WN, Barisic N, Mitrovic Z, Previtali SC, Topaloglu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Zuchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A

Title

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Journal

Nat Genet 44:1080-3 (2012)
DOI:10.1038/ng.2406

Reference

Authors

Cortes-Montero E, Rodriguez-Munoz M, Sanchez-Blazquez P, Garzon J

Title

The Axonal Motor Neuropathy-Related HINT1 Protein Is a Zinc- and Calmodulin-Regulated Cysteine SUMO Protease.

Journal

Antioxid Redox Signal 31:503-520 (2019)
DOI:10.1089/ars.2019.7724

LinkDB

» Japanese version

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