Congenital microcoria

Summary

Congenital microcoria (MONDO:0007989) is a disease with 1 cohort gene.

At a glance

• Prevalence: Unknown (Worldwide)
• Cohort genes: 1
• ClinVar variants: 1
• Phenotypes (HPO): 18

Clinical features

Signs & symptoms

Clinical features (HPO)

18 HPO clinical features (Orphanet curated; top 18 by frequency):

HPO ID	Term	Frequency
HP:0007695	Abnormal pupillary light reflex	Very frequent (80-99%)
HP:0007730	Iris hypopigmentation	Very frequent (80-99%)
HP:0007990	Hypoplastic iris stroma	Very frequent (80-99%)
HP:0012805	Iris transillumination defect	Very frequent (80-99%)
HP:0000483	Astigmatism	Frequent (30-79%)
HP:0000505	Visual impairment	Frequent (30-79%)
HP:0000613	Photophobia	Frequent (30-79%)
HP:0007906	Ocular hypertension	Frequent (30-79%)
HP:0012047	Hemeralopia	Frequent (30-79%)
HP:0012108	Open angle glaucoma	Frequent (30-79%)
HP:0031730	Axial myopia	Frequent (30-79%)
HP:0100018	Nuclear cataract	Frequent (30-79%)
HP:0000485	Megalocornea	Occasional (5-29%)
HP:0000519	Developmental cataract	Occasional (5-29%)
HP:0000618	Blindness	Occasional (5-29%)
HP:0000622	Blurred vision	Occasional (5-29%)
HP:0000662	Nyctalopia	Occasional (5-29%)
HP:0012040	Corneal stromal edema	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital microcoria
Mondo ID	MONDO:0007989
MeSH	C537550
OMIM	156600
Orphanet	566
SNOMED CT	400962005
UMLS	C1303009
MedGen	227002
GARD	0003635
Is cancer (heuristic)	no

Also known as: congenital miosis · pinhole pupils

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › anterior segment dysgenesis › iridogoniodysgenesis › congenital microcoria

Related subtypes (6): aniridia-cerebellar ataxia-intellectual disability syndrome, chromosome 6pter-p24 deletion syndrome, bilateral acute depigmentation of the iris, Rieger anomaly, congenital ectropion uveae, FOXC1-related anterior segment dysgenesis

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

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
989396	Single allele	GPR180	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

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
GPR180	HGNC:28899	ENSG00000152749	Q86V85	Integral membrane protein GPR180	clinvar

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)
GPR180	Other/Unknown	no		GPR180/TMEM145_TM, GPR180/TMEM145, GPR180-like_N

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
buccal mucosa cell	1
epithelial cell of pancreas	1
oviduct epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GPR180	216	ubiquitous	marker	buccal mucosa cell, epithelial cell of pancreas, oviduct epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GPR180	424

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
GPR180	Q86V85	81.16

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
response to pheromone	1	2808.7×	0.002	GPR180
response to food	1	495.6×	0.007	GPR180
generation of precursor metabolites and energy	1	343.9×	0.007	GPR180
fat cell differentiation	1	181.2×	0.010	GPR180
lipid metabolic process	1	91.6×	0.015	GPR180
gene expression	1	79.9×	0.015	GPR180
G protein-coupled receptor signaling pathway	1	36.2×	0.028	GPR180

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GPR180	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
GPR180	1	Binding:1

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	GPR180

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)
GPR180	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.