PPARG-related familial partial lipodystrophy
MONDO:0011448Mondo
Findings
No curated finding names PPARG-related familial partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
39 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HyperinsulinemiaHPOHP:0000842
- 3 of 3 reported patients
- HypertensionHPOHP:0000822
- 3 of 3 reported patients
- Obligate (100% of cases)
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- 3 of 3 reported patients
- Obligate (100% of cases)
- LipoatrophyHPOHP:0100578
- Obligate (100% of cases)
- LipodystrophyHPOHP:0009125
- 3 of 3 reported patients
- Type II diabetes mellitusHPOHP:0005978
- 3 of 3 reported patients
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Diabetes mellitusHPOHP:0000819
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- Insulin-resistant diabetes mellitusHPOHP:0000831
- Very frequent (80% to 99% of cases)
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- Very frequent (80% to 99% of cases)
Show the remaining 27
- XanthomatosisHPOHP:0000991
- Very frequent (80% to 99% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 2 of 3 reported patients
- HyperglycemiaHPOHP:0003074
- 2 of 3 reported patients
- AtherosclerosisHPOHP:0002621
- Frequent (30% to 79% of cases)
- Secondary amenorrheaHPOHP:0000869
- Frequent (30% to 79% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PPARGHGNC:9236
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: PPARG-related familial partial lipodystrophy
- Also called
- familial partial lipodystrophy type 3FPLD3PPARG-related FPLD