Features include always present findings: Hyperglycemia, Elevated hemoglobin A1c, Insulin-resistant diabetes mellitus, and Hirsutism and others; and very common findings: Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Lipoatrophy, Arthralgia, and Myalgia. 44 total HPO annotations.

PLAAT3 function has not been fully characterized.

Lipodystrophy, familial partial, type 9 is associated with mutations in the PLAAT3 gene on chromosome 11.

Genetic testing for PLAAT3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for lipodystrophy, familial partial, type 9 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 4 very common features, 13 common features.

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

No clinical trials have been registered for lipodystrophy, familial partial, type 9.

6 publications have been identified in PubMed for lipodystrophy, familial partial, type 9. Research spans Review / Meta-Analysis (50%), Diagnostic / Biomarker (17%), and Clinical Trial Publication (17%).

Recent Publications

• Vergès B (2026). [PMID: 41866072](https://pubmed.ncbi.nlm.nih.gov/41866072/). *Ann Endocrinol (Paris)*. [Review / Meta-Analysis]

• Muniz RBG (2026). [PMID: 42158918](https://pubmed.ncbi.nlm.nih.gov/42158918/). *Front Endocrinol (Lausanne)*. [Clinical Trial Publication]

• Lima JG (2025). [PMID: 41272755](https://pubmed.ncbi.nlm.nih.gov/41272755/). *Diabetol Metab Syndr*. [Review / Meta-Analysis]

• Agrawal S (2024). [PMID: 38345889](https://pubmed.ncbi.nlm.nih.gov/38345889/). *Diabetes*. [Diagnostic / Biomarker]

• Guidorizzi NR (2024). [PMID: 38887266](https://pubmed.ncbi.nlm.nih.gov/38887266/). *Front Endocrinol (Lausanne)*. [Epidemiology / Natural History]