Log In|Sign Up
中文Berardinelli-Seip Congenital Lipodystrophy
Alias:
Berardinelli-Seip Congenital Generalized Lipodystrophy
Familial Generalized Lipodystrophy
Favorite
Berardinelli-Seip先天性脂肪营养不良，也称为Berardinelli-Seip先天性全身性脂肪营养不良，与脂肪营养不良、先天性全身性、类型4和脂肪营养不良、先天性全身性、类型1有关。与Berardinelli-Seip先天性脂肪营养不良有关的重要基因是BSCL2（BSCL2脂滴生成相关蛋白，Seipin），其相关通路/超级通路包括葡萄糖/能量代谢和脂肪生成。附属组织包括脂肪细胞和骨骼，相关表型为四肢/手指/尾巴和脂肪组织
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
