KEGG   DISEASE: Agenesis of the corpus callosum with peripheral neuropathy
Entry
H00816                      Disease                                

Name
Agenesis of the corpus callosum with peripheral neuropathy
Description
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, progressive peripheral neuropathy caused by axonal degeneration, and complete or partial agenesis of the corpus callosum. ACCPN is found in French Canadian population and could be resulted from a single founder mutation.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00816  Agenesis of the corpus callosum with peripheral neuropathy
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00816  Agenesis of the corpus callosum with peripheral neuropathy
Gene
SLC12A6 [HSA:9990] [KO:K14427]
Other DBs
ICD-11: LD20.Y
ICD-10: G60.0
MeSH: C536446
OMIM: 218000
Reference
  Authors
Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA
  Title
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.
  Journal
Nat Genet 32:384-92 (2002)
DOI:10.1038/ng1002
Reference
PMID:8554065
  Authors
Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA
  Title
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.
  Journal
Am J Hum Genet 58:28-34 (1996)

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