Cone-rod dystrophy 22

disease

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Also known as CORD22

Summary

Cone-rod dystrophy 22 (MONDO:0030440) is a disease caused by TLCD3B (GenCC Strong), with 2 cohort genes.

At a glance

Causal gene: TLCD3B (GenCC Strong)
Cohort genes: 2
ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cone-rod dystrophy 22
Mondo ID	MONDO:0030440
OMIM	619531
DOID	DOID:0081448
UMLS	C5561989
MedGen	1794199
GARD	0025562
Is cancer (heuristic)	no

Also known as: CORD22

Data availability: 3 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal degeneration › inherited retinal dystrophy › cone-rod dystrophy › cone-rod dystrophy 22

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

3 retrieved; paginated sample, class counts are floors:

2 pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1268236	NM_031478.6(TLCD3B):c.234del (p.Gln79fs)	FIMP1	Pathogenic	no assertion criteria provided
1268235	NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser)	TLCD3B	Pathogenic	criteria provided, single submitter
3779312	NM_031478.6(TLCD3B):c.794_801dup (p.Pro268fs)	FIMP1	Uncertain significance	criteria provided, single submitter

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
TLCD3B	Strong	Autosomal recessive	cone-rod dystrophy 22	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TLCD3B	Orphanet:1872	Cone rod dystrophy

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TLCD3B	HGNC:25295	ENSG00000149926	Q71RH2	Ceramide synthase	gencc,clinvar
FIMP1	HGNC:26346	ENSG00000167194	Q96LL3	Fertilization-influencing membrane protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TLCD3B	Ceramide synthase	Involved in ceramide synthesis.
FIMP1	Fertilization-influencing membrane protein	May play a role in sperm-oocyte fusion during fertilization.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TLCD3B	Other/Unknown	no		TLC-dom, TLCD
FIMP1	Other/Unknown	no		FIMP

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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left testis	2
right testis	2
cortical plate	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TLCD3B	198	broad	marker	left testis, cortical plate, right testis
FIMP1	114		yes	right testis, left testis, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TLCD3B	1,017
FIMP1	317

Intra-cohort edges

A	B	Sources
FIMP1	TLCD3B	string_interaction

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
TLCD3B	Q71RH2	89.52
FIMP1	Q96LL3	65.84

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
fusion of sperm to egg plasma membrane involved in single fertilization	1	280.9×	0.006	FIMP1
ceramide biosynthetic process	1	210.7×	0.006	TLCD3B
lipid homeostasis	1	168.5×	0.006	TLCD3B
fertilization	1	156.0×	0.006	FIMP1
negative regulation of fat cell differentiation	1	156.0×	0.006	TLCD3B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 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
TLCD3B	0	0
FIMP1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	TLCD3B, FIMP1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TLCD3B	0	—
FIMP1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: TLCD3B, FIMP1