KEGG DISEASE: Familial dysautonomia

KEGG

DISEASE: Familial dysautonomia

Entry

H01987                      Disease

Name

Familial dysautonomia;
Riley-Day syndrome;
Hereditary sensory and autonomic neuropathy type 3

Supergrp

Hereditary sensory and autonomic neuropathy [DS:H00265]

Description

Familial dysautonomia (FD), also known as Riley day syndrome, is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems. Symptoms include decreased sensitivity to pain and temperature, cardiovascular instability, recurrent pneumonias, and gastrointestinal dysfunction. This disorder is primarily confined to individuals of Ashkenazi Jewish descent, and caused by mutations of the IKAP gene that encodes a scaffolding unit ELP1 for a elongator complex.

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
    8C21  Hereditary sensory or autonomic neuropathy
     H01987  Familial dysautonomia

Gene

ELP1 [HSA:8518] [KO:K11373]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF

Title

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31.

Journal

Am J Hum Genet 64:1110-8 (1999)
DOI:10.1086/302339

Reference

Authors

Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY

Title

Familial dysautonomia is caused by mutations of the IKAP gene.

Journal

Am J Hum Genet 68:753-8 (2001)
DOI:10.1086/318808

LinkDB

» Japanese version

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