KEGG   DISEASE: Hepatorenocardiac degenerative fibrosis
エントリ  
H02748                                                             
名称    
Hepatorenocardiac degenerative fibrosis
概要    
Hepatorenocardiac degenerative fibrosis (HRCDF) is a rare autosomal recessive disorder characterized by multiorgan fibrosis. Patients present progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary trafficking.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02748  Hepatorenocardiac degenerative fibrosis
病因遺伝子 
TULP3 [HSA:7289] [KO:K19600]
リンク   
ICD-11: LD2F.Y
OMIM: 619902
文献    
PMID:35397207
  著者
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grunewald I, Konrad M, Konig J, Schlevogt B, Sayer JA, Bergmann C
  タイトル
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
  雑誌
Am J Hum Genet 109:928-943 (2022)
DOI:10.1016/j.ajhg.2022.03.015
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