Features include always present findings: Hepatic steatosis, Hypertriglyceridemia, Lipoatrophy, and Insulin resistance and others; and very common findings: Infertility, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, and Enlarged calf muscles (calf muscle hypertrophy) and others. 21 total HPO annotations.

PLIN1 function has not been fully characterized.

PLIN1-related familial partial lipodystrophy is caused by mutations in the PLIN1 gene on chromosome 15.

Genetic testing for PLIN1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 9 always present features, 5 very common features, 7 common features.

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

No clinical trials have been registered for PLIN1-related familial partial lipodystrophy.

8 publications have been identified in PubMed for PLIN1-related familial partial lipodystrophy. Research spans Basic Science / Preclinical (38%), Review / Meta-Analysis (13%), and Case Report / Case Series (13%).

Recent Publications

• Gao Y (2026). [PMID: 41751985](https://pubmed.ncbi.nlm.nih.gov/41751985/). *International journal of molecular sciences*. [Basic Science / Preclinical]

• Foss-Freitas M (2025). [PMID: 40835790](https://pubmed.ncbi.nlm.nih.gov/40835790/). *Current diabetes reports*. [Review / Meta-Analysis]

• Lamothe S (2025). [PMID: 39829337](https://pubmed.ncbi.nlm.nih.gov/39829337/). *Diabetes, obesity &amp; metabolism*. [Clinical Trial Publication]

• Lima JG (2025). [PMID: 41272755](https://pubmed.ncbi.nlm.nih.gov/41272755/). *Diabetology &amp; metabolic syndrome*. [Basic Science / Preclinical]

• Vergès B (2024). [PMID: 38899472](https://pubmed.ncbi.nlm.nih.gov/38899472/). *Arteriosclerosis, thrombosis, and vascular biology*. [Basic Science / Preclinical]