CIDEC-related familial partial lipodystrophy
MONDO:0014098Mondo
Findings
No curated finding names CIDEC-related familial partial lipodystrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
19 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
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Decreased adiponectin levelHPOHP:0030685
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Decreased serum leptinHPOHP:0003292
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Diabetic ketoacidosisHPOHP:0001953
- 1 of 1 reported patient
- Elevated circulating C-peptide concentrationHPOHP:0030796
- 1 of 1 reported patient
- Hepatic steatosisHPOHP:0001397
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- HypertriglyceridemiaHPOHP:0002155
- 1 of 1 reported patient · Young adult onset
- Very frequent (80% to 99% of cases)
- Irregular menstruationHPOHP:0000858
- 1 of 1 reported patient
- LipodystrophyHPOHP:0009125
- 1 of 1 reported patient
- Obligate (100% of cases)
- Loss of subcutaneous adipose tissue in limbsHPOHP:0003635
- Obligate (100% of cases)
Reported absent (1)
- Loss of facial adipose tissueHPOHP:0000292
Show the remaining 7
- Calf muscle hypertrophyHPOHP:0008981
- 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
- Very frequent (80% to 99% of cases)
- PancreatitisHPOHP:0001733
- Very frequent (80% to 99% of cases)
- Polycystic ovariesHPOHP:0000147
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.
- CIDECHGNC:24229
- Moderate · ClinGen · Autosomal recessive · 2026
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: CIDEC-related familial partial lipodystrophy
- Also called
- CIDEC-related FPLDFPLD5