KEGG   DISEASE: 高ビリベルジン血症
エントリ  
H01936                                                             
名称    
高ビリベルジン血症
概要    
Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances, the concentrations of biliverdin are much lower than those of bilirubin. However, in rare cases, impairment of the biliverdin/bilirubin pathway has been reported to result in green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.
カテゴリ  
先天性代謝異常症
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C58  ポルフィリンまたはヘム代謝の先天性異常
     H01936  高ビリベルジン血症
パスウェイ 
hsa00860  Porphyrin metabolism
病因遺伝子 
BLVRA [HSA:644] [KO:K00214]
リンク   
ICD-11: 5C58.0Y
ICD-10: K76.8
OMIM: 614156
文献    
PMID:19580635
  著者
Gafvels M, Holmstrom P, Somell A, Sjovall F, Svensson JO, Stahle L, Broome U, Stal P
  タイトル
A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice).
  雑誌
Liver Int 29:1116-24 (2009)
DOI:10.1111/j.1478-3231.2009.02029.x
文献    
PMID:21278388
  著者
Nytofte NS, Serrano MA, Monte MJ, Gonzalez-Sanchez E, Tumer Z, Ladefoged K, Briz O, Marin JJ
  タイトル
A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis.
  雑誌
J Med Genet 48:219-25 (2011)
DOI:10.1136/jmg.2009.074567

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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