KEGG   DISEASE: 重症先天性肝疾患
エントリ  
H02730                                                             
名称    
重症先天性肝疾患
概要    
Severe congenital liver disease (SCOLIV) is a multisystemic syndrome characterized by severe neonatal liver cirrhosis. The recessive loss-of-function mutations in FOCAD cause this disease. It has been suggested that FOCAD deficiency impairs the SKI mRNA surveillance pathway by reducing levels of the SKIC2 and SKIC3, two important components of the SKI complex.
カテゴリ  
消化器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 19 周産期に発生した病態
  胎児または新生児の消化器系疾患
   KB8Y  その他の明示された胎児または新生児の消化器系疾患
    H02730  重症先天性肝疾患
病因遺伝子 
FOCAD [HSA:54914] [KO:K27498]
リンク   
ICD-11: KB8Y
OMIM: 619991
文献    
  著者
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bezieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrao AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B
  タイトル
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
  雑誌
Nat Genet 54:1214-1226 (2022)
DOI:10.1038/s41588-022-01120-0
文献    
  著者
Shao J
  タイトル
Discovery of FOCAD: An Important Gene in Liver Cirrhosis.
  雑誌
Glob Med Genet 9:263-264 (2022)
DOI:10.1055/s-0042-1758351
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