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familial partial lipodystrophy
heterogeneous group of genetic disorders
Genetics:
- associated with defects in PPARG
- type 2 (autosomal dominant) associated with defects in LMNA
Clinical manifestations:
- heterogeneous
- marked loss of subcutaneous fat from the extremities & trunk
- excess fat deposition in the head & neck
- susceptibility to insulin resistance, diabetes mellitus & dyslipidemia
General
lipodystrophy; lipoatrophy
lipid metabolism, inborn error; lipid storage disease; lipidosis
Database Correlations
OMIM correlations
References
- UniProt :accession P37231
- OMIM :accession 604367
- OMIM :accession 151660