autosomal semi-dominant severe lipodystrophic laminopathy
MONDO:0017230Mondo
Findings
No curated finding names autosomal semi-dominant severe lipodystrophic laminopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
49 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.
- 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)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- Insulin resistanceHPOHP:0000855
- Very frequent (80% to 99% of cases)
- LipoatrophyHPOHP:0100578
- Very frequent (80% to 99% of cases)
- LipodystrophyHPOHP:0009125
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Minimal subcutaneous fatHPOHP:0003717
- Very frequent (80% to 99% of cases)
- Narrow nasal ridgeHPOHP:0000418
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- Progeroid facial appearanceHPOHP:0005328
- Very frequent (80% to 99% of cases)
Show the remaining 37
- Reduced subcutaneous adipose tissueHPOHP:0003758
- Very frequent (80% to 99% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Very frequent (80% to 99% of cases)
- XanthomatosisHPOHP:0000991
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- Acanthosis nigricansHPOHP:0000956
- Frequent (30% to 79% of cases)
- Accelerated atherosclerosisHPOHP:0004943
- 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.
- LMNAHGNC:6636
- Supportive · Orphanet · Semidominant · 2021
Where it sits
- A kind of