PLIN1-related familial partial lipodystrophy
MONDO:0013478Mondo
Findings
No curated finding names PLIN1-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
- Miscarriage · Young adult onset
HPO, annotations 2026-09-02
Features
21 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.
- Acanthosis nigricansHPOHP:0000956
- 3 of 3 reported patients
- Obligate (100% of cases)
- Hepatic steatosisHPOHP:0001397
- 2 of 3 reported patients
- Obligate (100% of cases)
- HyperinsulinemiaHPOHP:0000842
- Obligate (100% of cases)
- HypertensionHPOHP:0000822
- 1 of 3 reported patients
- Obligate (100% of cases)
- HypertriglyceridemiaHPOHP:0002155
- 3 of 3 reported patients
- Obligate (100% of cases)
- Insulin resistanceHPOHP:0000855
- 3 of 3 reported patients
- Insulin-resistant diabetes mellitus at pubertyHPOHP:0000877
- Obligate (100% of cases)
- LipoatrophyHPOHP:0100578
- 3 of 3 reported patients
- Obligate (100% of cases)
- LipodystrophyHPOHP:0009125
- 3 of 3 reported patients
- Calf muscle hypertrophyHPOHP:0008981
- Very frequent (80% to 99% of cases)
- InfertilityHPOHP:0000789
- Very frequent (80% to 99% of cases)
- Loss of gluteal subcutaneous adipose tissueHPOHP:0009017
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- Very frequent (80% to 99% of cases)
- Reduced subcutaneous adipose tissueHPOHP:0003758
- Very frequent (80% to 99% of cases)
- Insulin-resistant diabetes mellitusHPOHP:0000831
- 2 of 3 reported patients
- Skeletal muscle hypertrophyHPOHP:0003712
- 2 of 3 reported patients
- Abnormal circulating hormone concentrationHPOHP:0003117
- Frequent (30% to 79% of cases)
- Hepatic fibrosisHPOHP:0001395
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.
- PLIN1HGNC:9076
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Disputed Evidence · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: PLIN1-related familial partial lipodystrophy
- Also called
- FPLD4PLIN1-related FPLD