CIDEA
Chr 18cell death inducing DFFA like effector a
Also known as: CIDE-A
The protein is a lipid transferase that promotes lipid droplet fusion and enlargement, restricting lipolysis and favoring lipid storage in adipose tissue. Mutations cause multisystem lipodystrophy with severe insulin resistance, and the gene shows autosomal recessive inheritance. Loss-of-function tolerance metrics indicate the gene tolerates heterozygous loss well, consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
148 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 86 | 0 | 86 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 40 | 13 | 0 | 53 |
Likely Benign | 0 | 1 | 0 | 0 | 1 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 42 | 101 | 0 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CIDEA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools