Features include always present findings: Hepatic steatosis, Hypertriglyceridemia, Increased C-peptide level, and Decreased adiponectin level and others.

CIDEC encodes cell death inducing DFFA like effector c (238 aa). Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion. Highest expression in Adipose Subcutaneous (908.9 TPM) and Adipose Visceral Omentum (575.4 TPM).

CIDEC-related familial partial lipodystrophy is associated with mutations in the CIDEC gene on chromosome 3.

The CIDEC protein participates in CIDEC gene:nucleosome, CIDEC gene:H3K4me1-nucleosome, and APOA4,APOA5,APOC2,CIDEC,FGF21 genes express APOA4,APOA5,APOC2,CIDEC,FGF21 proteins pathways.

CIDEC is classified as a druggable target with score 0.0.

Genetic testing for CIDEC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for CIDEC-related familial partial lipodystrophy has been reported in the published literature.

Phenotype severity distribution: 11 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for CIDEC-related familial partial lipodystrophy.

94 publications have been identified in PubMed for CIDEC-related familial partial lipodystrophy. Research spans Case Report / Case Series (27%), Basic Science / Preclinical (22%), and Review / Meta-Analysis (20%).