Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Lipodystrophy, Congenital Generalized, Type 4(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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lipodystrophy, Congenital Generalized, Type 4, also known as congenital generalized lipodystrophy type 4, is related to lipodystrophy, congenital generalized, type 1 and berardinelli-seip congenital lipodystrophy, and has symptoms including constipation, muscular stiffness and myalgia. An important gene associated with Lipodystrophy, Congenital Generalized, Type 4 is CAVIN1 (Caveolae Associated Protein 1), and among its related pathways/superpathways are PDGFR-alpha signaling pathway and Congenital generalized lipodystrophy. Affiliated tissues include skeletal muscle and smooth muscle, and related phenotypes are hirsutism and elevated circulating creatine kinase concentration

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