congenital stationary night blindness 1E

Summary

congenital stationary night blindness 1E (MONDO:0013807) is a disease caused by GPR179 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: GPR179 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 210

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital stationary night blindness 1E
Mondo ID	MONDO:0013807
OMIM	614565
DOID	DOID:0110869
UMLS	C3281215
MedGen	482845
GARD	0015816
Is cancer (heuristic)	no

Also known as: congenital stationary night blindness 1E · congenital stationary night blindness caused by mutation in GPR179 · congenital stationary night blindness type 1E · CSNB1E · GPR179 congenital stationary night blindness · night blindness, congenital stationary (complete), 1E, autosomal recessive · night blindness, congenital stationary, type 1E

Data availability: 210 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › perceptual disorders › vision disorder › blindness (disorder) › night blindness › congenital stationary night blindness › congenital stationary night blindness 1E

Related subtypes (13): congenital stationary night blindness autosomal dominant 2, congenital stationary night blindness 1B, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, congenital stationary night blindness 1C, congenital stationary night blindness 1D, congenital stationary night blindness 1F, congenital stationary night blindness 1G, congenital stationary night blindness 1H, Oguchi disease, night blindness, congenital stationary, type1i, X-linked congenital stationary night blindness

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

210 retrieved; paginated sample, class counts are floors:

91 uncertain significance, 51 conflicting classifications of pathogenicity, 30 benign, 18 benign/likely benign, 8 pathogenic, 4 likely benign, 4 likely pathogenic, 3 pathogenic/likely pathogenic, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
1454474	NM_001004334.4(GPR179):c.1368del (p.Phe456fs)	GPR179	Pathogenic	criteria provided, multiple submitters, no conflicts
1705299	NM_001004334.4(GPR179):c.1667G>A (p.Trp556Ter)	GPR179	Pathogenic	criteria provided, single submitter
1907776	NM_001004334.4(GPR179):c.958C>T (p.Arg320Ter)	GPR179	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
31200	NM_001004334.4(GPR179):c.1807C>T (p.His603Tyr)	GPR179	Pathogenic	no assertion criteria provided
31201	NM_001004334.4(GPR179):c.278del (p.Pro93fs)	GPR179	Pathogenic	criteria provided, single submitter
31202	NM_001004334.4(GPR179):c.598C>T (p.Arg200Ter)	GPR179	Pathogenic	no assertion criteria provided
31203	NM_001004334.4(GPR179):c.1784+1G>A	GPR179	Pathogenic	no assertion criteria provided
31204	NM_001004334.4(GPR179):c.984del (p.Ser329fs)	GPR179	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
31205	NM_001004334.4(GPR179):c.187del (p.Leu63fs)	GPR179	Pathogenic	no assertion criteria provided
599074	NM_001004334.4(GPR179):c.779_780dup (p.Pro262fs)	GPR179	Pathogenic	no assertion criteria provided
623175	NM_001004334.4(GPR179):c.1727del (p.Tyr576fs)	GPR179	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1324509	NM_001004334.4(GPR179):c.148C>T (p.Gln50Ter)	GPR179	Likely pathogenic	criteria provided, single submitter
3382199	NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter)	GPR179	Likely pathogenic	criteria provided, single submitter
3382988	NM_001004334.4(GPR179):c.951C>A (p.Cys317Ter)	GPR179	Likely pathogenic	criteria provided, single submitter
3779711	NM_001004334.4(GPR179):c.3238C>T (p.Gln1080Ter)	GPR179	Likely pathogenic	criteria provided, single submitter
1301551	NM_001004334.4(GPR179):c.619G>C (p.Gly207Arg)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1333395	NM_001004334.4(GPR179):c.4550dup (p.Met1517fs)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1908043	NM_001004334.4(GPR179):c.3934_3935del (p.Arg1312fs)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
193825	NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
196293	NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
197170	NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2043056	NM_001004334.4(GPR179):c.3049C>T (p.Arg1017Ter)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
31206	NM_001004334.4(GPR179):c.659A>G (p.Tyr220Cys)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322964	NM_001004334.4(GPR179):c.7035C>T (p.Gly2345=)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322968	NM_001004334.4(GPR179):c.6621C>T (p.Ser2207=)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322969	NM_001004334.4(GPR179):c.6475A>G (p.Lys2159Glu)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322971	NM_001004334.4(GPR179):c.6335C>T (p.Ala2112Val)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322974	NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322975	NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
322979	NM_001004334.4(GPR179):c.5350C>A (p.Pro1784Thr)	GPR179	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

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
GPR179	Definitive	Autosomal recessive	congenital stationary night blindness 1E	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
GPR179	Orphanet:714079	Complete congenital stationary night blindness, Schubert-Bornschein type

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
GPR179	HGNC:31371	ENSG00000277399	Q6PRD1	Probable G-protein coupled receptor 179	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
GPR179	Probable G-protein coupled receptor 179	Orphan receptor involved in 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)
GPR179	GPCR	yes		GPCR_3_C, GPR158/179, GPR158_179_extracellular

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
male germ line stem cell (sensu Vertebrata) in testis	1
prefrontal cortex	1
superior frontal gyrus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
GPR179	73	tissue_specific	yes	male germ line stem cell (sensu Vertebrata) in testis, prefrontal cortex, superior frontal gyrus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
GPR179	959

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
GPR179	Q6PRD1	2

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
protein localization to plasma membrane	1	108.7×	0.013	GPR179
visual perception	1	79.5×	0.013	GPR179

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
GPR179	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	GPR179
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)
GPR179	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.