KEGG   DISEASE: Cowchock syndrome
Entry
H02344                      Disease                                
Name
Cowchock syndrome;
X-linked Charcot-Marie-Tooth disease type 4
  Supergrp
Charcot-Marie-Tooth disease [DS:H00264]
Description
Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. This syndrome is associated with a mutation in AIFM1, the gene encoding apoptosis-inducing factor.
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
     H02344  Cowchock syndrome
Pathway
hsa04210  Apoptosis
hsa04217  Necroptosis
Gene
AIFM1 [HSA:9131] [KO:K04727]
Other DBs
ICD-11: 8C20.Y
MeSH: C536450
OMIM: 310490
Reference
PMID:8666389
  Authors
Priest JM, Fischbeck KH, Nouri N, Keats BJ
  Title
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.
  Journal
Genomics 29:409-12 (1995)
DOI:10.1006/geno.1995.9987
Reference
PMID:23217327
  Authors
Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landoure G, Kennerson ML, Burnett BG, Bonnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH
  Title
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
  Journal
Am J Hum Genet 91:1095-102 (2012)
DOI:10.1016/j.ajhg.2012.10.008
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