Lipodystrophy, Familial Partial, Type 4 (FPLD4)

Alias:

Plin1-Related Familial Partial Lipodystrophy

Fpld4

Familial Partial Lipodystrophy Associated with Plin1 Mutations

Familial Partial Lipodystrophy Type 4

Plin1-Related Fpld

Lipodystrophy, Familial Partial, Associated with Plin1 Mutations

Lipodystrophy, Familial Partial, 4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lipodystrophy, Familial Partial, Type 4, also known as plin1-related familial partial lipodystrophy, is related to lipodystrophy, familial partial, type 6 and lysosomal acid lipase deficiency. An important gene associated with Lipodystrophy, Familial Partial, Type 4 is PLIN1 (Perilipin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include ovary and skin, and related phenotypes are hypertension and lipoatrophy

Related ID：

MALACARDS：LPD034

OMIM：613877

MESH：D052496