AKT2-related familial partial lipodystrophy
MONDO:0019192Mondo
Findings
No curated finding names AKT2-related familial partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
12 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.
- Insulin resistanceHPOHP:0000855
- Obligate (100% of cases)
- LipodystrophyHPOHP:0009125
- Obligate (100% of cases)
- Acanthosis nigricansHPOHP:0000956
- Very frequent (80% to 99% of cases)
- Decreased adiponectin levelHPOHP:0030685
- Very frequent (80% to 99% of cases)
- Decreased serum leptinHPOHP:0003292
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Increased intraabdominal fatHPOHP:0008993
- Very frequent (80% to 99% of cases)
- Insulin-resistant diabetes mellitusHPOHP:0000831
- Frequent (30% to 79% of cases)
- OligomenorrheaHPOHP:0000876
- Frequent (30% to 79% of cases)
- Polycystic ovariesHPOHP:0000147
- 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.
- AKT2HGNC:392
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
1 name
Resolves to: AKT2-related familial partial lipodystrophy
- Also called
- AKT2-related FPLD