KEGG DISEASE: 末梢神経障害を伴う脳梁欠損

DISEASE: 末梢神経障害を伴う脳梁欠損

エントリ

H00816

名称

末梢神経障害を伴う脳梁欠損

概要

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.

カテゴリ

神経系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H00816  末梢神経障害を伴う脳梁欠損

病因遺伝子

SLC12A6 [HSA:9990] [KO:K14427]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:12368912

著者

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

タイトル

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

雑誌

Nat Genet 32:384-92 (2002)
DOI:10.1038/ng1002

文献

PMID:8554065

著者

Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA

タイトル

The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.

雑誌

Am J Hum Genet 58:28-34 (1996)

LinkDB

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