CSNBAD1
MCID: NGH021
MIFTS: 20

Night Blindness, Congenital Stationary, Autosomal Dominant 1 (CSNBAD1)

Categories: Eye diseases, Genetic diseases, Mental 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 58 76 13 74
Csnbad1 58 12 76
Congenital Stationary Night Blindness, Autosomal Dominant 1 30 6
Rhodopsin-Related Congenital Stationary Night Blindness 12 76
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 41
Congenital Stationary Night Blindness Autosomal Dominant 1 12
Night Blindness, Congenital Stationary, Rhodopsin-Related 58

Characteristics:

HPO:

33
night blindness, congenital stationary, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110862
OMIM 58 610445
MeSH 45 D009755
MedGen 43 C1864869
UMLS 74 C1864869

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 76 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 bone, eye and retina, and related phenotypes are visual field defect and congenital stationary night blindness

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

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

33
# Description HPO Frequency HPO Source Accession
1 visual field defect 33 HP:0001123
2 congenital stationary night blindness 33 HP:0007642
3 bone spicule pigmentation of the retina 33 HP:0007737
4 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Clinical features from OMIM:

610445

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 30 RHO

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

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

42
Bone, Eye, Retina

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

# Title Authors Year
1
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. ( 9888392 )
1999
2
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. ( 8107847 )
1994
3
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. ( 8358437 )
1993

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

76
# 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.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh37 Chromosome 3, 129247644: 129247644
2 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 GRCh38 Chromosome 3, 129528801: 129528801
3 RHO NM_000539.3(RHO): c.875C> A (p.Ala292Glu) single nucleotide variant Pathogenic rs104893789 GRCh37 Chromosome 3, 129251554: 129251554
4 RHO NM_000539.3(RHO): c.875C> A (p.Ala292Glu) single nucleotide variant Pathogenic rs104893789 GRCh38 Chromosome 3, 129532711: 129532711
5 RHO NM_000539.3(RHO): c.269G> A (p.Gly90Asp) single nucleotide variant Pathogenic rs104893790 GRCh37 Chromosome 3, 129247845: 129247845
6 RHO NM_000539.3(RHO): c.269G> A (p.Gly90Asp) single nucleotide variant Pathogenic rs104893790 GRCh38 Chromosome 3, 129529002: 129529002
7 RHO NM_000539.3(RHO): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs104893796 GRCh37 Chromosome 3, 129247857: 129247857
8 RHO NM_000539.3(RHO): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs104893796 GRCh38 Chromosome 3, 129529014: 129529014
9 RHO NM_000539.3(RHO): c.491C> T (p.Ala164Val) single nucleotide variant Pathogenic rs104893793 GRCh38 Chromosome 3, 129531005: 129531005
10 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....