KEGG DISEASE: Agenesis of the corpus callosum with peripheral neuropathy

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KEGG DISEASE: Agenesis of the corpus callosum with peripheral neuropathy

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 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:

ICD-10:

MeSH:

OMIM:

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

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)

LinkDB

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