Blue color blindness

Summary

Blue color blindness (MONDO:0008610) is a disease caused by OPN1SW (GenCC Strong), with 1 cohort gene.

At a glance

• Prevalence: 1-9 / 100 000 (Europe)
• Causal gene: OPN1SW (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 6
• Phenotypes (HPO): 6

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	4.8	Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0000479	Abnormal retinal morphology	Frequent (30-79%)
HP:0000552	Tritanomaly	Frequent (30-79%)
HP:0030584	Color vision test abnormality	Frequent (30-79%)
HP:0000613	Photophobia	Occasional (5-29%)
HP:0007663	Reduced visual acuity	Occasional (5-29%)
HP:0012043	Pendular nystagmus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	blue color blindness
Mondo ID	MONDO:0008610
OMIM	190900
Orphanet	88629
DOID	DOID:11661
SNOMED CT	51886007
UMLS	C0155017
MedGen	57827
GARD	0016768
Is cancer (heuristic)	no

Also known as: congenital tritanopia · tritan color blindness · tritan colour blindness · tritan defect · tritanopia

Data availability: 6 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › perceptual disorders › vision disorder › color vision disorder › blue color blindness

Related subtypes (4): colorblindness, partial, acquired color blindness, red color blindness, achromatopsia

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

6 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 1 conflicting classifications of pathogenicity, 1 benign, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1041228	NM_001385125.1(OPN1SW):c.268G>A (p.Val90Ile)	OPN1SW	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1411010	NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His)	OPN1SW	Uncertain significance	criteria provided, single submitter
63	NC_000007.14:g.128774545A>G	OPN1SW	Uncertain significance	criteria provided, single submitter
64	NC_000007.14:g.128773786G>A	OPN1SW	Uncertain significance	criteria provided, single submitter
1169097	NM_001385125.1(OPN1SW):c.357A>C (p.Gly119=)	OPN1SW	Benign	criteria provided, multiple submitters, no conflicts
62	NC_000007.14:g.128775556C>T	OPN1SW	Likely benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
OPN1SW	Strong	Autosomal dominant	blue color blindness	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
OPN1SW	Orphanet:88629	Tritanopia

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
OPN1SW	HGNC:1012	ENSG00000128617	P03999	Short-wave-sensitive opsin 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
OPN1SW	Short-wave-sensitive opsin 1	Visual pigments are the light-absorbing molecules that mediate vision.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
OPN1SW	GPCR	yes		GPCR_Rhodpsn, Opsin_blue, Opsin

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
Brodmann (1909) area 46	1
sural nerve	1
vena cava	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
OPN1SW	95	tissue_specific	yes	vena cava, sural nerve, Brodmann (1909) area 46

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
OPN1SW	902

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
OPN1SW	P03999	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. 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 OPN1SW loss of function	1	11420.0×	4e-04	OPN1SW
The retinoid cycle in cones (daylight vision)	1	1631.4×	0.001	OPN1SW
Opsins	1	1268.9×	0.001	OPN1SW
G alpha (i) signalling events	1	39.0×	0.026	OPN1SW

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
absorption of visible light	1	2808.7×	0.002	OPN1SW
cellular response to UV-A	1	1404.3×	0.002	OPN1SW
cellular response to light stimulus	1	1053.2×	0.002	OPN1SW
phototransduction	1	495.6×	0.004	OPN1SW
visual perception	1	79.5×	0.018	OPN1SW
G protein-coupled receptor signaling pathway	1	36.2×	0.032	OPN1SW
signal transduction	1	16.1×	0.062	OPN1SW

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
OPN1SW	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	1	OPN1SW
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

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)
OPN1SW	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.