familial partial lipodystrophy, Dunnigan type
Findings
No curated finding names familial partial lipodystrophy, Dunnigan type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.
Definition from the Mondo Disease Ontology (MONDO:0007906), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset · Late onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
81 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.
- Constrictive median neuropathyHPOHP:0012185
- 2 of 2 reported patients
- Exercise-induced myalgiaHPOHP:0003738
- 3 of 3 reported patients
- Glucose intoleranceHPOHP:0001952
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Increased facial adipose tissueHPOHP:0000287
- 1 of 1 reported patient
- Insulin resistanceHPOHP:0000855
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 69
- XanthomatosisHPOHP:0000991
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Loss of truncal subcutaneous adipose tissueHPOHP:0009002
- 108 of 115 reported patients
- HyperglycemiaHPOHP:0003074
- 8 of 9 reported patients
- Hepatic steatosisHPOHP:0001397
- 87 of 108 reported patients
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Diabetes mellitusHPOHP:0000819
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.
- LMNAHGNC:6636
- Definitive · G2P · Autosomal dominant · 2022
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: familial partial lipodystrophy, Dunnigan type
- Also called
- Dunnigan syndromefamilial partial lipodystrophy type 2FPLD2