LIPE-related familial partial lipodystrophy
MONDO:0014431Mondo
Findings
No curated finding names LIPE-related familial partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Young adult onset
HPO, annotations 2026-09-02
Features
30 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.
- Increased adipose tissue around the neckHPOHP:0000468
- Obligate (100% of cases)
- Insulin resistanceHPOHP:0000855
- Obligate (100% of cases)
- LipodystrophyHPOHP:0009125
- 2 of 3 reported patients
- Obligate (100% of cases)
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- Obligate (100% of cases)
- Pes cavusHPOHP:0001761
- 3 of 3 reported patients
- Skeletal muscle atrophyHPOHP:0003202
- 3 of 3 reported patients
- Abnormal labia majora morphologyHPOHP:0012881
- Very frequent (80% to 99% of cases)
- Acanthosis nigricansHPOHP:0000956
- 1 of 3 reported patients
- 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)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Hepatic steatosisHPOHP:0001397
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 18
- 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
- Very frequent (80% to 99% of cases)
- Loss of gluteal subcutaneous adipose tissueHPOHP:0009017
- Very frequent (80% to 99% of cases)
- OligomenorrheaHPOHP:0000876
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.
- LIPEHGNC:6621
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: LIPE-related familial partial lipodystrophy
- Also called
- FPLD6LIPE-related FPLD