KEGG DISEASE: Growth retardation, developmental delay, coarse facies, and early death

DISEASE: Growth retardation, developmental delay, coarse facies, and early death

エントリ

H00926

名称

Growth retardation, developmental delay, coarse facies, and early death

概要

This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause in these patients.

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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00926  Growth retardation, developmental delay, coarse facies, and early death

病因遺伝子

FTO [HSA:79068] [KO:K19469]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:19559399

著者

Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L

タイトル

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

雑誌

Am J Hum Genet 85:106-11 (2009)
DOI:10.1016/j.ajhg.2009.06.002

» English version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

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