Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

先天性全身脂肪营养不良4型(来自ICD-11)

别称:

Congenital Generalized Lipodystrophy Type 4

Lipodystrophy, Berardinelli-Seip Congenital, Type 4, with Muscular Dystrophy

Berardinelli-Seip Congenital Lipodystrophy, Type 4, with Muscular Dystrophy

Berardinelli-Seip Congenital Lipodystrophy Type 4 with Muscular Dystrophy

Cgl4

Generalised Congenital Lipodystrophy with Myopathy

Generalized Congenital Lipodystrophy with Myopathy

Berardinelli-Seip Congenital Lipodystrophy Type 4

Congenital Generalised Lipodystrophy Type 4

Generalised Congenital Lipodystrophy Type 4

Generalized Congenital Lipodystrophy Type 4

Congenital Generalized Lipodystrophy 4

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

先天性全身性脂肪营养不良4型，又称先天性全身性脂肪营养不良4型、先天性全身性脂肪营养不良1型和贝拉德尼-西普先天性脂肪营养不良，其症状包括便秘、肌肉僵硬和肌肉痛。与先天性全身性脂肪营养不良4型相关的基因是CAVIN1（Caveolae Associated Protein 1），其相关通路/超级通路包括PDGFR-alpha信号通路和先天性全身性脂肪营养不良。相关组织包括骨骼肌和平滑肌，相关表型包括多毛症和循环肌酸激酶浓度升高。

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