KEGG DISEASE: 骨頭蓋骨狭窄症

DISEASE: 骨頭蓋骨狭窄症

エントリ

H02223

名称

骨頭蓋骨狭窄症;
Gracile bone dysplasia

概要

Osteocraniostenosis, also known as gracile bone dysplasia (GCLEB), is a perinatally lethal condition characterized by gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. It has been reported that individuals with GCLEB had mutations in FAM111A.

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
   LD24  主な特徴として骨格の異常を伴う症候群
    H02223  骨頭蓋骨狭窄症

病因遺伝子

FAM111A [HSA:63901] [KO:K24274]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:19006220

著者

Nyholm JL, Lindor NM, Thomas KB, Brost BC

タイトル

Slender bone dysplasia (gracile).

雑誌

Am J Med Genet A 146A:3234-6 (2008)
DOI:10.1002/ajmg.a.31979

文献

PMID:23684011

著者

Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A

タイトル

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

雑誌

Am J Hum Genet 92:990-5 (2013)
DOI:10.1016/j.ajhg.2013.04.020

» English version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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