KEGG DISEASE: GAPO 症候群

DISEASE: GAPO 症候群

エントリ

H02901

名称

GAPO 症候群

概要

GAPO syndrome is a rare syndrome characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy. It has been reported that mutations in ANTXR1 cause this syndrome. ANTXR1, anthrax toxin receptor 1, encodes a type I transmembrane protein that is involved in cell attachment and migration.

カテゴリ

先天奇形

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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02901  GAPO 症候群

病因遺伝子

ANTXR1 [HSA:84168] [KO:K20909]

リンク

ICD-11:

LD27.0Y

MeSH:

C535642

OMIM:

230740

文献

PMID:23602711

著者

Stranecky V, Hoischen A, Hartmannova H, Zaki MS, Chaudhary A, Zudaire E, Noskova L, Baresova V, Pristoupilova A, Hodanova K, Sovova J, Hulkova H, Piherova L, Hehir-Kwa JY, de Silva D, Senanayake MP, Farrag S, Zeman J, Martasek P, Baxova A, Afifi HH, St Croix B, Brunner HG, Temtamy S, Kmoch S

タイトル

Mutations in ANTXR1 cause GAPO syndrome.

雑誌

Am J Hum Genet 92:792-9 (2013)
DOI:10.1016/j.ajhg.2013.03.023

文献

PMID:25045128

著者

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR

タイトル

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

雑誌

Am J Med Genet A 164A:2328-34 (2014)
DOI:10.1002/ajmg.a.36678

LinkDB

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