Log In|Sign Up
中文Bile Acid Synthesis Defect, Congenital, 1 (CBAS1)
Alias:
Congenital Bile Acid Synthesis Defect 1
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
Cbas1
Congenital Bile Acid Synthesis Defect Type 1
Basd1
3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency
Progressive Familial Intrahepatic Cholestasis Type 4
Cholestasis, Progressive Familial Intrahepatic 4
Bile Acid Synthesis Defect, Congenital, Type 1
Neonatal Progressive Intrahepatic Cholestasis
3beta-Hsdh Deficiency
Pfic4
加入收藏
胆酸合成缺陷，先天性1型，又称先天性胆酸合成缺陷1型，与胆汁淤积、家族性进行性肝内胆汁淤积4型和先天性胆酸合成缺陷有关，症状包括腹泻和黄疸。与胆酸合成缺陷，先天性1型有关的重要基因是HSD3B7（5-羟基-Δ-类固醇脱氢酶3β-和类固醇Δ-异构酶7）。相关组织包括肝脏和脾脏，相关表型为生长发育迟缓和肝大。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
