Lipodystrophy, Congenital Generalized, Type 4 (CGL4)

Alias:

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

Related ID：

MALACARDS：LPD035

OMIM：613327

MESH：D052497