KEGG   DISEASE: 軸前母指側多指(趾)
エントリ  
H02332                                                             
名称    
軸前母指側多指(趾)
  下位グループ
多合指症 [DS:H01226]
概要    
Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD.
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  筋骨格系の先天奇形
   H02332  軸前母指側多指(趾)
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   骨格の構造的発達異常
    LB78  多指
     H02332  軸前母指側多指(趾)
関連パスウェイ
hsa04340  Hedgehog signaling pathway
hsa04024  cAMP signaling pathway
病因遺伝子 
(PPD1) GLI1 [HSA:2735] [KO:K16797]
(PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217]
(PPD4) GLI3 [HSA:2737] [KO:K06230]
コメント  
ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.
リンク   
ICD-11: LB78.2 LB78.3
ICD-10: Q69.0
MeSH: D017689
OMIM: 174400 174500 174700
文献    
  著者
Ullah A, Umair M, Majeed AI, Abdullah, Jan A, Ahmad W
  タイトル
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.
  雑誌
Clin Genet 95:540-541 (2019)
DOI:10.1111/cge.13495
文献    
  著者
VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N
  タイトル
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
  雑誌
Hum Mutat 35:945-8 (2014)
DOI:10.1002/humu.22581
文献    
  著者
Umair M, Ahmad F, Bilal M, Ahmad W, Alfadhel M
  タイトル
Clinical Genetics of Polydactyly: An Updated Review.
  雑誌
Front Genet 9:447 (2018)
DOI:10.3389/fgene.2018.00447
LinkDB    

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