KEGG   DISEASE: 指紋欠如疾患
エントリ  
H02295                                                             
名称    
指紋欠如疾患
概要    
Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.
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
  主に1つの体系に影響する構造的発達異常
   皮膚の構造的発達異常
    LC7Y  その他の明示された皮膚の構造的発達異常
     H02295  指紋欠如疾患
パスウェイ 
hsa04550  Signaling pathways regulating pluripotency of stem cells
病因遺伝子 
SMARCAD1 [HSA:56916] [KO:K14439]
リンク   
ICD-11: LC7Y
OMIM: 136000
文献    
  著者
Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E
  タイトル
A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
  雑誌
Am J Hum Genet 89:302-7 (2011)
DOI:10.1016/j.ajhg.2011.07.004
文献    
  著者
Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E
  タイトル
Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
  雑誌
Br J Dermatol 171:1521-4 (2014)
DOI:10.1111/bjd.13176
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