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Features include always present findings: Insulin resistance, Lipodystrophy, Hypertriglyceridemia, and Hypertension and others; and common findings: Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Hyperglycemia, Oligomenorrhea, and Acanthosis nigricans and others. 21 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 4 | Insulin resistance, Insulin-resistant diabetes mellitus, Type II diabetes mellitus |
PPARG function has not been fully characterized.
PPARG-related familial partial lipodystrophy is associated with mutations in the PPARG gene on chromosome 3.
Genetic testing for PPARG is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for PPARG-related familial partial lipodystrophy has been reported in the published literature.
Phenotype severity distribution: 6 always present features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for PPARG-related familial partial lipodystrophy.
85 publications have been identified in PubMed for PPARG-related familial partial lipodystrophy. Research spans Case Report / Case Series (28%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 24 | 28% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:45 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about PPARG-related familial partial lipodystrophy
Digestive system | 3 | Hepatic steatosis, Low HDL ("good") cholesterol (decreased hdl cholesterol concentration), Liver scarring (cirrhosis) (cirrhosis) |
Skin | 3 | Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs |
Heart and blood vessels | 1 | Hypertension |
Arms and legs | 1 | Loss of subcutaneous adipose tissue in limbs |
Laboratory research
18 |
21% |
Disease patterns and progression | 12 | 14% |
Research summaries | 11 | 13% |
Clinical study results | 8 | 9% |
Testing and diagnosis research | 6 | 7% |
Other research | 3 | 4% |
New treatment approaches | 3 | 4% |
Armani A (2026). [PMID: 41521767](https://pubmed.ncbi.nlm.nih.gov/41521767/). *Endocrinology*. [Case Report / Case Series]
Muniz RBG (2026). [PMID: 42158918](https://pubmed.ncbi.nlm.nih.gov/42158918/). *Front Endocrinol (Lausanne)*. [Clinical Trial Publication]
Maung JN (2026). [PMID: 41851000](https://pubmed.ncbi.nlm.nih.gov/41851000/). *Trends in endocrinology and metabolism: TEM*. [Review / Meta-Analysis]
Magno S (2026). [PMID: 41858864](https://pubmed.ncbi.nlm.nih.gov/41858864/). *Frontiers in endocrinology*. [Case Report / Case Series]
Vergès B (2026). [PMID: 41866072](https://pubmed.ncbi.nlm.nih.gov/41866072/). *Ann Endocrinol (Paris)*. [Review / Meta-Analysis]
Mendoza C (2026). [PMID: 42039119](https://pubmed.ncbi.nlm.nih.gov/42039119/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Barbosa R (2026). [PMID: 41869101](https://pubmed.ncbi.nlm.nih.gov/41869101/). *Cureus*. [Case Report / Case Series]
Patni N (2026). [PMID: 41596298](https://pubmed.ncbi.nlm.nih.gov/41596298/). *International journal of molecular sciences*. [Case Report / Case Series]
Duque-Cordoba PA (2026). [PMID: 41710646](https://pubmed.ncbi.nlm.nih.gov/41710646/). *The application of clinical genetics*. [Case Report / Case Series]
Kitamura T (2026). [PMID: 42128842](https://pubmed.ncbi.nlm.nih.gov/42128842/). *Endocr J*. [Case Report / Case Series]