MCID: NGH021
MIFTS: 19

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 1 57 75 13 73
Csnbad1 57 12 75
Congenital Stationary Night Blindness, Autosomal Dominant 1 29 6
Rhodopsin-Related Congenital Stationary Night Blindness 12 75
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 40
Congenital Stationary Night Blindness Autosomal Dominant 1 12
Night Blindness, Congenital Stationary, Rhodopsin-Related 57

Classifications:



External Ids:

OMIM 57 610445
Disease Ontology 12 DOID:0110862
MedGen 42 C1864869
MeSH 44 D009755
SNOMED-CT via HPO 69 12184005 193687000 232061009
UMLS 73 C1864869

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, autosomal dominant 1: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Autosomal Dominant 1, is also known as csnbad1. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include retina, bone and eye, and related phenotypes are decreased light- and dark-adapted electroretinogram amplitude and visual field defect

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in mutations in the RHO gene on chromosome 3q22.1.

Description from OMIM: 610445

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Clinical features from OMIM:

610445

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

32
# Description HPO Frequency HPO Source Accession
1 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
2 visual field defect 32 HP:0001123
3 congenital stationary night blindness 32 HP:0007642
4 bone spicule pigmentation of the retina 32 HP:0007737

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Autosomal Dominant 1 29 RHO

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

41
Retina, Bone, Eye

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

75
# Symbol AA change Variation ID SNP ID
1 RHO p.Gly90Asp VAR_004783 rs104893790
2 RHO p.Thr94Ile VAR_004784 rs104893796
3 RHO p.Ala292Glu VAR_004827 rs104893789

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RHO NM_000539.3(RHO): c.875C> A (p.Ala292Glu) single nucleotide variant Pathogenic rs104893789 GRCh37 Chromosome 3, 129251554: 129251554
2 RHO NM_000539.3(RHO): c.875C> A (p.Ala292Glu) single nucleotide variant Pathogenic rs104893789 GRCh38 Chromosome 3, 129532711: 129532711
3 RHO NM_000539.3(RHO): c.269G> A (p.Gly90Asp) single nucleotide variant Pathogenic rs104893790 GRCh37 Chromosome 3, 129247845: 129247845
4 RHO NM_000539.3(RHO): c.269G> A (p.Gly90Asp) single nucleotide variant Pathogenic rs104893790 GRCh38 Chromosome 3, 129529002: 129529002
5 RHO NM_000539.3(RHO): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs104893796 GRCh37 Chromosome 3, 129247857: 129247857
6 RHO NM_000539.3(RHO): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs104893796 GRCh38 Chromosome 3, 129529014: 129529014
7 RHO NM_000539.3(RHO): c.491C> T (p.Ala164Val) single nucleotide variant Pathogenic rs104893793 GRCh38 Chromosome 3, 129531005: 129531005
8 RHO NM_000539.3(RHO): c.491C> T (p.Ala164Val) single nucleotide variant Pathogenic rs104893793 GRCh37 Chromosome 3, 129249848: 129249848

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 1.

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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