congenital hereditary endothelial dystrophy type I

Summary

congenital hereditary endothelial dystrophy type I (MONDO:0020365) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital hereditary endothelial dystrophy type I
Mondo ID	MONDO:0020365
OMIM	121700
Orphanet	98975
SNOMED CT	416633008
UMLS	C1562945
MedGen	736888
GARD	0019610
Is cancer (heuristic)	no

Also known as: autosomal dominant CHED · autosomal dominant congenital hereditary endothelial dystrophy · CHED1 · CHEDI · congenital hereditary endothelial dystrophy type 1

Data availability: 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › corneal disorder › corneal dystrophy › posterior corneal dystrophy › congenital hereditary endothelial dystrophy type I

Related subtypes (5): Fuchs’ endothelial dystrophy, central cloudy dystrophy of François, congenital hereditary endothelial dystrophy of cornea, X-linked endothelial corneal dystrophy, posterior polymorphous corneal dystrophy

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · 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
OVOL2	Definitive	Autosomal dominant	posterior polymorphous corneal dystrophy 1	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
OVOL2	Orphanet:98973	Posterior polymorphous corneal dystrophy

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
OVOL2	HGNC:15804	ENSG00000125850	Q9BRP0	Transcription factor Ovo-like 2	gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
OVOL2	Transcription factor Ovo-like 2	Zinc-finger transcription repressor factor.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
OVOL2	Transcription factor	no		Znf_C2H2_type, Ovo-like, Znf_C2H2_sf

Expression context

Cohort genes with no expression data: 0.

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
mucosa of transverse colon	1
olfactory segment of nasal mucosa	1
pancreatic ductal cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
OVOL2	190	broad	yes	pancreatic ductal cell, mucosa of transverse colon, olfactory segment of nasal mucosa

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
OVOL2	860

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
OVOL2	Q9BRP0	61.52

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 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 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 white fat cell proliferation	1	16852.0×	0.001	OVOL2
neural fold formation	1	4213.0×	0.002	OVOL2
endocardium formation	1	4213.0×	0.002	OVOL2
epidermal cell differentiation	1	1685.2×	0.003	OVOL2
negative regulation of keratinocyte differentiation	1	1685.2×	0.003	OVOL2
regulation of keratinocyte proliferation	1	1532.0×	0.003	OVOL2
obsolete negative regulation of transcription by competitive promoter binding	1	1296.3×	0.003	OVOL2
heart trabecula formation	1	1123.5×	0.003	OVOL2
embryonic digestive tract morphogenesis	1	936.2×	0.003	OVOL2
negative regulation of stem cell proliferation	1	842.6×	0.003	OVOL2
positive regulation of keratinocyte differentiation	1	802.5×	0.003	OVOL2
labyrinthine layer blood vessel development	1	802.5×	0.003	OVOL2
negative regulation of SMAD protein signal transduction	1	601.9×	0.003	OVOL2
negative regulation of Notch signaling pathway	1	432.1×	0.004	OVOL2
dorsal/ventral pattern formation	1	421.3×	0.004	OVOL2
negative regulation of epithelial to mesenchymal transition	1	411.0×	0.004	OVOL2
neural crest cell migration	1	337.0×	0.004	OVOL2
heart looping	1	267.5×	0.005	OVOL2
negative regulation of transforming growth factor beta receptor signaling pathway	1	173.7×	0.008	OVOL2
cell population proliferation	1	102.8×	0.012	OVOL2
regulation of cell cycle	1	74.6×	0.016	OVOL2
negative regulation of gene expression	1	69.1×	0.016	OVOL2
angiogenesis	1	62.4×	0.017	OVOL2
positive regulation of gene expression	1	38.7×	0.027	OVOL2
regulation of transcription by RNA polymerase II	1	11.7×	0.086	OVOL2

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
OVOL2	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	OVOL2

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)
OVOL2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.