Microphthalmia, isolated, with coloboma 8

Summary

Microphthalmia, isolated, with coloboma 8 (MONDO:0800324) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	microphthalmia, isolated, with coloboma 8
Mondo ID	MONDO:0800324
UMLS	C3540845
MedGen	761921
GARD	0026502
Is cancer (heuristic)	no

Also known as: MCOPCB8

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › isolated microphthalmia › microphthalmia, isolated, with coloboma › microphthalmia, isolated, with coloboma 8

Related subtypes (11): microphthalmia, isolated, with coloboma 4, microphthalmia with coloboma 2, microphthalmia, isolated, with coloboma 3, microphthalmia, isolated, with coloboma 5, microphthalmia, isolated, with coloboma 6, microphthalmia, isolated, with coloboma 7, microphthalmia, isolated, with coloboma 9, microphthalmia, isolated, with coloboma 10, microphthalmia with coloboma 1, microphthalmia/coloboma 11, microphthalmia/coloboma 13

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
39742	NM_022369.4(STRA6):c.910_911delinsAA (p.Gly304Lys)	STRA6	Pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
STRA6	Orphanet:2470	Matthew-Wood syndrome
STRA6	Orphanet:98938	Colobomatous microphthalmia

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
STRA6	HGNC:30650	ENSG00000137868	Q9BX79	Receptor for retinol uptake STRA6	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STRA6	Receptor for retinol uptake STRA6	Functions as a retinol transporter.

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)
STRA6	Other/Unknown	no		STRA6-like

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
endometrium	1
placenta	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STRA6	128	broad	marker	stromal cell of endometrium, endometrium, placenta

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
STRA6	1,448

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
STRA6	Q9BX79	78.18

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 8. 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
Defective visual phototransduction due to STRA6 loss of function	1	3806.7×	7e-04	STRA6
Retinoid cycle disease events	1	2855.0×	7e-04	STRA6
Diseases associated with visual transduction	1	2855.0×	7e-04	STRA6
Diseases of the neuronal system	1	2855.0×	7e-04	STRA6
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.003	STRA6
Visual phototransduction	1	259.6×	0.005	STRA6
Sensory Perception	1	95.2×	0.012	STRA6
Disease	1	13.1×	0.076	STRA6

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
positive regulation of behavior	1	16852.0×	9e-04	STRA6
alveolar primary septum development	1	16852.0×	9e-04	STRA6
retinol transport	1	8426.0×	9e-04	STRA6
embryonic camera-type eye formation	1	8426.0×	9e-04	STRA6
vitamin A import into cell	1	8426.0×	9e-04	STRA6
nose morphogenesis	1	5617.3×	0.001	STRA6
paramesonephric duct development	1	4213.0×	0.001	STRA6
ductus arteriosus closure	1	3370.4×	0.001	STRA6
uterus morphogenesis	1	2808.7×	0.001	STRA6
pulmonary artery morphogenesis	1	2808.7×	0.001	STRA6
female genitalia development	1	2407.4×	0.001	STRA6
vocal learning	1	2106.5×	0.001	STRA6
head morphogenesis	1	2106.5×	0.001	STRA6
diaphragm development	1	1872.4×	0.001	STRA6
ear development	1	1532.0×	0.002	STRA6
lung vasculature development	1	1532.0×	0.002	STRA6
head development	1	1203.7×	0.002	STRA6
smooth muscle tissue development	1	1053.2×	0.002	STRA6
eyelid development in camera-type eye	1	1053.2×	0.002	STRA6
digestive tract morphogenesis	1	991.3×	0.002	STRA6
embryonic digestive tract development	1	991.3×	0.002	STRA6
pulmonary valve morphogenesis	1	936.2×	0.002	STRA6
developmental growth	1	732.7×	0.002	STRA6
adrenal gland development	1	674.1×	0.002	STRA6
artery morphogenesis	1	674.1×	0.002	STRA6
feeding behavior	1	543.6×	0.003	STRA6
neuromuscular process	1	526.6×	0.003	STRA6
ventricular septum development	1	495.6×	0.003	STRA6
face morphogenesis	1	495.6×	0.003	STRA6
blood vessel development	1	374.5×	0.003	STRA6

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
STRA6	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
STRA6	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	STRA6

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)
STRA6	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.