H00816 | |
H number | H00816 |
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 |
Network | - |
Gene | SLC12A6 [HSA:9990] [KO:K14427] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD20.Y ICD-10: G60.0 MeSH: C536446 OMIM: 218000 |
Reference | PMID:12368912 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 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) |