阿拉吉歐症候群
阿拉吉歐症候群是一種體染色體基因異常的疾病,其會導致膽汁鬱積、先天性心臟血管疾病、骨骼結構異常、眼球角膜異常以及特殊的外觀長相。此病通常藉由肝臟內膽管的數目來判定。
阿拉吉歐症候群 | |
---|---|
症状 | cholestasis facies[*] |
类型 | 肝病、疾病 |
分类和外部资源 | |
醫學專科 | 醫學遺傳學、小兒科、外科學、心臟內科 |
ICD-10 | Q44.7 (EUROCAT Q44.71) |
ICD-9-CM | 759.89 |
OMIM | 118450 |
DiseasesDB | 29085 |
eMedicine | ped/60 |
MeSH | D016738 |
Orphanet | 52、52 |
其發生率為1/70000,但數字有可能被低估。
遺傳方面,其遺傳方式為體染色體顯性遺傳疾病。
外部連結
- Official Website for the Alagille Syndrome Alliance (页面存档备份,存于)
- Official Alagille Syndrome Alliance message board
- GeneReviews/NCBI/UW/NIH entry on Alagille syndrome (页面存档备份,存于)
- OMIM entries on Alagille syndrome (页面存档备份,存于)
- Alagille Syndrome, Liver Diseases and Treatments, Cincinnati Children's Hospital Medical Center (页面存档备份,存于)
- Information from the Alagille Syndrome Alliance
- Children's Liver Disease Foundation (页面存档备份,存于)
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