KEGG   DISEASE: 多毛症を伴う歯肉増殖症
エントリ  
H02417                                                             
名称    
多毛症を伴う歯肉増殖症
概要    
Gingival fibromatosis with hypertrichosis is a rare autosomal recessive congenital generalized hypertrichosis terminalis. It is characterized by hair growth that is excessive for the body size and age of an individual and is independent of androgen stimulation. It has been reported that mutations in the cholesterol transporter gene ABCA5 are associated with this disease.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02417  多毛症を伴う歯肉増殖症
パスウェイ 
hsa02010  ABC transporters
病因遺伝子 
ABCA5 [HSA:23461] [KO:K05648]
リンク   
ICD-11: LD27.0Y
MeSH: C565016
OMIM: 135400
文献    
PMID:12503107
  著者
Canun S, Guevara-Sangines EG, Elvira-Morales A, Sierra-Romero Mdel C, Rodriguez-Asbun H
  タイトル
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
  雑誌
Am J Med Genet A 116A:278-83 (2003)
DOI:10.1002/ajmg.a.10883
文献    
PMID:24831815
  著者
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM
  タイトル
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.
  雑誌
PLoS Genet 10:e1004333 (2014)
DOI:10.1371/journal.pgen.1004333
LinkDB    

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