CIDEC-related familial partial lipodystrophy

Summary

CIDEC-related familial partial lipodystrophy (MONDO:0014098) is a disease with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 4
• Phenotypes (HPO): 16

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		1	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

16 HPO clinical features (Orphanet curated; top 16 by frequency):

HPO ID	Term	Frequency
HP:0003635	Loss of subcutaneous adipose tissue in limbs	Obligate (100%)
HP:0009125	Lipodystrophy	Obligate (100%)
HP:0000147	Polycystic ovaries	Very frequent (80-99%)
HP:0000831	Insulin-resistant diabetes mellitus	Very frequent (80-99%)
HP:0000876	Oligomenorrhea	Very frequent (80-99%)
HP:0000956	Acanthosis nigricans	Very frequent (80-99%)
HP:0001397	Hepatic steatosis	Very frequent (80-99%)
HP:0001733	Pancreatitis	Very frequent (80-99%)
HP:0002155	Hypertriglyceridemia	Very frequent (80-99%)
HP:0002240	Hepatomegaly	Very frequent (80-99%)
HP:0003292	Decreased serum leptin	Very frequent (80-99%)
HP:0003712	Skeletal muscle hypertrophy	Very frequent (80-99%)
HP:0008981	Calf muscle hypertrophy	Very frequent (80-99%)
HP:0009017	Loss of gluteal subcutaneous adipose tissue	Very frequent (80-99%)
HP:0030685	Decreased adiponectin level	Very frequent (80-99%)
HP:0000292	Loss of facial adipose tissue	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	CIDEC-related familial partial lipodystrophy
Mondo ID	MONDO:0014098
OMIM	615238
Orphanet	435651
DOID	DOID:0070203
UMLS	C3808940
MedGen	815270
GARD	0013125
Is cancer (heuristic)	no

Also known as: CIDEC-related familial partial lipodystrophy · CIDEC-related FPLD · FPLD5 · lipodystrophy, familial partial, type 5

Data availability: 4 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › lipodystrophy › hereditary lipodystrophy › familial partial lipodystrophy › CIDEC-related familial partial lipodystrophy

Related subtypes (9): familial partial lipodystrophy, Dunnigan type, PPARG-related familial partial lipodystrophy, familial partial lipodystrophy, Kobberling type, PLIN1-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy, autosomal semi-dominant severe lipodystrophic laminopathy, AKT2-related familial partial lipodystrophy, lipodystrophy, familial partial, type 8, lipodystrophy, familial partial, type 9

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

4 retrieved; paginated sample, class counts are floors:

1 benign, 1 uncertain significance, 1 likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
50400	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	CIDEC	Pathogenic	no assertion criteria provided
4845911	NM_001321142.2(CIDEC):c.610_611del (p.Gly204fs)	CIDEC	Likely pathogenic	criteria provided, single submitter
3779530	NM_001321142.2(CIDEC):c.668del (p.Lys223fs)	CIDEC	Uncertain significance	criteria provided, single submitter
128774	NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)	CIDEC	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CIDEC	Supportive	Autosomal recessive	CIDEC-related familial partial lipodystrophy	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CIDEC	Orphanet:435651	CIDEC-related familial partial lipodystrophy

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CIDEC	HGNC:24229	ENSG00000187288	Q96AQ7	Lipid transferase CIDEC	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CIDEC	Lipid transferase CIDEC	Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CIDEC	Other/Unknown	no		CIDE-N_dom

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
adipose tissue	1
adipose tissue of abdominal region	1
subcutaneous adipose tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CIDEC	185	tissue_specific	marker	subcutaneous adipose tissue, adipose tissue, adipose tissue of abdominal region

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CIDEC	947

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CIDEC	Q96AQ7	74.19

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Lipid particle organization	1	1903.3×	0.002	CIDEC
Assembly of active LPL and LIPC lipase complexes	1	601.0×	0.002	CIDEC
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis	1	82.8×	0.012	CIDEC

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of triglyceride metabolic process	1	4213.0×	0.001	CIDEC
lipid droplet fusion	1	3370.4×	0.001	CIDEC
lipid droplet organization	1	936.2×	0.002	CIDEC
negative regulation of lipid catabolic process	1	842.6×	0.002	CIDEC
execution phase of apoptosis	1	766.0×	0.002	CIDEC
lipid storage	1	543.6×	0.002	CIDEC
apoptotic process	1	28.7×	0.035	CIDEC

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CIDEC	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	CIDEC

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
CIDEC	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.