Congenital stationary night blindness autosomal dominant 1

Summary

Congenital stationary night blindness autosomal dominant 1 (MONDO:0012498) is a disease caused by RHO (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: RHO (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 89

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital stationary night blindness autosomal dominant 1
Mondo ID	MONDO:0012498
MeSH	C566474
OMIM	610445
DOID	DOID:0110862
UMLS	C1864869
MedGen	355852
GARD	0015488
Is cancer (heuristic)	no

Also known as: congenital stationary night blindness autosomal dominant type 1 · congenital stationary night blindness caused by mutation in RHO · CSNBAD1 · night blindness, congenital stationary, autosomal dominant 1 · night blindness, congenital stationary, autosomal dominant type 1 · RHO congenital stationary night blindness

Data availability: 89 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital stationary night blindness autosomal dominant 1

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

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

89 retrieved; paginated sample, class counts are floors:

42 uncertain significance, 15 conflicting classifications of pathogenicity, 12 benign, 10 benign/likely benign, 4 pathogenic, 3 pathogenic/likely pathogenic, 2 likely pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
13013	NM_000539.3(RHO):c.68C>A (p.Pro23His)	RHO	Pathogenic	criteria provided, multiple submitters, no conflicts
13044	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	RHO	Pathogenic	no assertion criteria provided
13045	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO	Pathogenic	criteria provided, multiple submitters, no conflicts
417867	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO	Pathogenic	criteria provided, multiple submitters, no conflicts
13054	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO	Likely pathogenic	criteria provided, single submitter
984781	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	RHO	Likely pathogenic	criteria provided, single submitter
343273	NM_000539.3(RHO):c.48G>A (p.Ala16=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
343277	NM_000539.3(RHO):c.480C>A (p.Thr160=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
343281	NM_000539.3(RHO):c.696+12G>A	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
343282	NM_000539.3(RHO):c.959C>A (p.Thr320Asn)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
632397	NM_000539.3(RHO):c.1025C>T (p.Thr342Met)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
899388	NM_000539.3(RHO):c.630C>T (p.Val210=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
899389	NM_000539.3(RHO):c.697-11G>A	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
900392	NM_000539.3(RHO):c.62G>A (p.Arg21His)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
900454	NM_000539.3(RHO):c.361+10G>A	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
900511	NM_000539.3(RHO):c.732G>A (p.Gln244=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
900512	NM_000539.3(RHO):c.744G>A (p.Lys248=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
902117	NM_000539.3(RHO):c.399C>A (p.Ile133=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
902170	NM_000539.3(RHO):c.948C>T (p.Cys316=)	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
976629	NM_000539.3(RHO):c.*959A>G	RHO	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1707636	NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)	RHO	Uncertain significance	criteria provided, single submitter
2203437	NM_000539.3(RHO):c.659T>G (p.Phe220Cys)	RHO	Uncertain significance	criteria provided, multiple submitters, no conflicts
343278	NM_000539.3(RHO):c.586C>A (p.Pro196Thr)	RHO	Uncertain significance	criteria provided, multiple submitters, no conflicts
343279	NM_000539.3(RHO):c.614T>G (p.Ile205Ser)	RHO	Uncertain significance	criteria provided, single submitter
343284	NM_000539.3(RHO):c.*40C>T	RHO	Uncertain significance	criteria provided, single submitter
343285	NM_000539.3(RHO):c.*115G>A	RHO	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 13 · Orphanet: 3 · 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
RHO	Definitive	Autosomal dominant	congenital stationary night blindness autosomal dominant 1	13

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RHO	Orphanet:215	Congenital stationary night blindness
RHO	Orphanet:52427	Retinitis punctata albescens
RHO	Orphanet:791	Retinitis pigmentosa

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
RHO	HGNC:10012	ENSG00000163914	P08100	Rhodopsin	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RHO	Rhodopsin	Photoreceptor required for image-forming vision at low light intensity.

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)
RHO	GPCR	yes		GPCR_Rhodpsn, Rhodopsin, Opsin

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
diaphragm	1
neuron projection bundle connecting eye with brain	1
optic choroid	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RHO	38	tissue_specific	marker	optic choroid, neuron projection bundle connecting eye with brain, diaphragm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RHO	3,578

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RHO	P08100	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 6. 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
Opsins	1	1268.9×	0.003	RHO
Activation of the phototransduction cascade	1	951.7×	0.003	RHO
The canonical retinoid cycle in rods (twilight vision)	1	519.1×	0.003	RHO
VxPx cargo-targeting to cilium	1	519.1×	0.003	RHO
Inactivation, recovery and regulation of the phototransduction cascade	1	317.2×	0.004	RHO
G alpha (i) signalling events	1	39.0×	0.026	RHO

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
thermotaxis	1	8426.0×	9e-04	RHO
rod bipolar cell differentiation	1	8426.0×	9e-04	RHO
detection of temperature stimulus involved in thermoception	1	5617.3×	9e-04	RHO
G protein-coupled opsin signaling pathway	1	3370.4×	0.001	RHO
absorption of visible light	1	2808.7×	0.001	RHO
response to light intensity	1	2106.5×	0.001	RHO
podosome assembly	1	2106.5×	0.001	RHO
phototransduction, visible light	1	1296.3×	0.001	RHO
cellular response to light stimulus	1	1053.2×	0.002	RHO
phototransduction	1	495.6×	0.003	RHO
photoreceptor cell maintenance	1	358.6×	0.004	RHO
microtubule cytoskeleton organization	1	121.2×	0.010	RHO
gene expression	1	79.9×	0.013	RHO
visual perception	1	79.5×	0.013	RHO
G protein-coupled receptor signaling pathway	1	36.2×	0.028	RHO

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
RHO	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
RHO	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	1	RHO
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)
RHO	1	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.