KEGG   DISEASE: Guttmacher 症候群
エントリ  
H00859                                                             
名称    
Guttmacher 症候群
概要    
Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs and halluces, 5th finger clinobrachydactyly and hypospadias, Guttmacher syndrome displays postaxial polydactyly of the hands and short or uniphalangeal 2nd toes with absent nails.
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
   LD26  主な特徴として肢の異常を伴う症候群
    H00859  Guttmacher 症候群
病因遺伝子 
HOXA13 [HSA:3209] [KO:K09298]
コメント  
Hand-foot-genital syndrome [DS:H00460]
リンク   
ICD-11: LD26.2
MeSH: C538278
OMIM: 176305
文献    
  著者
Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE
  タイトル
A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
  雑誌
Hum Mutat 19:573-4 (2002)
DOI:10.1002/humu.9036
LinkDB    

» English version

DBGET integrated database retrieval system