KEGG   DISEASE: Abnormal hair, joint laxity, and developmental delay
エントリ  
H02824                                                             
名称    
Abnormal hair, joint laxity, and developmental delay
概要    
Abnormal hair, joint laxity, and developmental delay (HJDD) is a genetic disorder characterized by abnormal hair (pili torti and trichorrhexis nodosa) and cognitive dysfunction. Mutations in HEPHL1 gene, a member of the multicopper oxidase family, have found in a patient of 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
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02824  Abnormal hair, joint laxity, and developmental delay
病因遺伝子 
HEPHL1 [HSA:341208] [KO:K14735]
リンク   
ICD-11: LD90.Y
MeSH: C537398
OMIM: 261990
文献    
PMID:31125343
  著者
Sharma P, Reichert M, Lu Y, Markello TC, Adams DR, Steinbach PJ, Fuqua BK, Parisi X, Kaler SG, Vulpe CD, Anderson GJ, Gahl WA, Malicdan MCV
  タイトル
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
  雑誌
PLoS Genet 15:e1008143 (2019)
DOI:10.1371/journal.pgen.1008143
文献    
PMID:1379303
  著者
Shapira SK, Neish AS, Pober BR
  タイトル
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
  雑誌
J Med Genet 29:509-10 (1992)
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