PPARG-related familial partial lipodystrophy: genes and variants
PPARG-related familial partial lipodystrophy is linked to 1 analyzed protein (PPARG). 7 DNA variants are known to cause it; 4 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to PPARG-related familial partial lipodystrophy
PPARG: Peroxisome proliferator-activated receptor gamma
It drives adipocyte differentiation, lipid storage, and insulin-sensitive metabolic programs in response to endogenous lipids and thiazolidinedione drugs. Dominant-negative variants cause familial partial lipodystrophy type 3 with severe insulin resistance and dyslipidemia.
7 disease-causing and 4 uncertain variants in PPARG are linked to PPARG-related familial partial lipodystrophy.
Known disease-causing variants in PPARG-related familial partial lipodystrophy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PPARG R164Q | 164 | Nuclear receptor | Disease-causing (★★) |
| PPARG P495L | 495 | NR LBD | Disease-causing (★★) |
| PPARG R425H | 425 | NR LBD | Disease-causing (★★) |
| PPARG R164W | 164 | Nuclear receptor | Disease-causing |
| PPARG P214L | 214 | Interaction with FAM120B | Disease-causing |
| PPARG V318M | 318 | NR LBD | Disease-causing |
| PPARG F388L | 388 | NR LBD | Disease-causing |
Diseases related to PPARG-related familial partial lipodystrophy
- Type 2 diabetes mellitus, also linked to PPARG
- Carcinoma of colon, also linked to PPARG
- Diabetes mellitus, also linked to PPARG
Frequently asked questions
Which genes are linked to PPARG-related familial partial lipodystrophy?
In CATVariant, PPARG-related familial partial lipodystrophy is linked to 1 analyzed protein: PPARG (Peroxisome proliferator-activated receptor gamma).
How many genetic variants are linked to PPARG-related familial partial lipodystrophy?
15 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in PPARG-related familial partial lipodystrophy look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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