Features include always present findings: Skeletal muscle atrophy and Pes cavus; and common findings: Hepatic steatosis, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), High blood fat levels (hyperlipidemia), and Myopathy and others. 20 total HPO annotations.

LIPE encodes lipase E, hormone sensitive type (1,076 aa). Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters. Highest expression in Adipose Subcutaneous (342.7 TPM) and Adipose Visceral Omentum (231.3 TPM).

LIPE-related familial partial lipodystrophy is caused by mutations in the LIPE gene on chromosome 19.

The LIPE protein participates in LIPE gene:Nucleosome, LIPE gene:H3K4me1-nucleosomes, and 2-AG hydrolysis to arachidonate by MAGL pathways.

LIPE is classified as a druggable target (Druggable Genome and Enzyme categories) with score 13.1.

Genetic testing for LIPE is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for LIPE-related familial partial lipodystrophy has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 12 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for LIPE-related familial partial lipodystrophy.

81 publications have been identified in PubMed for LIPE-related familial partial lipodystrophy. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (22%), and Epidemiology / Natural History (15%).