CSNBAD1
MCID: NGH021
MIFTS: 22

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 57 74 13 72
Csnbad1 57 12 74
Congenital Stationary Night Blindness, Autosomal Dominant 1 29 6
Rhodopsin-Related Congenital Stationary Night Blindness 12 74
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 40
Congenital Stationary Night Blindness Autosomal Dominant 1 12
Night Blindness, Congenital Stationary, Rhodopsin-Related 57

Characteristics:

HPO:

32
night blindness, congenital stationary, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110862
MeSH 44 D009755
MedGen 42 C1864869
UMLS 72 C1864869

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 610445 PS310500

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

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

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

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

# Title Authors PMID Year
1
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. 8 71
9888392 1999
2
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 8 71
8358437 1993
3
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. 8
7846071 1995
4
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 71
8107847 1994
5
A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. 8
14275464 1965

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO): c.491C> T (p.Ala164Val) single nucleotide variant Pathogenic rs104893793 3:129249848-129249848 3:129531005-129531005
2 RHO NM_000539.3(RHO): c.68C> A (p.Pro23His) single nucleotide variant Pathogenic rs104893768 3:129247644-129247644 3:129528801-129528801
3 RHO NM_000539.3(RHO): c.875C> A (p.Ala292Glu) single nucleotide variant Pathogenic rs104893789 3:129251554-129251554 3:129532711-129532711
4 RHO NM_000539.3(RHO): c.269G> A (p.Gly90Asp) single nucleotide variant Pathogenic rs104893790 3:129247845-129247845 3:129529002-129529002
5 RHO NM_000539.3(RHO): c.281C> T (p.Thr94Ile) single nucleotide variant Pathogenic rs104893796 3:129247857-129247857 3:129529014-129529014

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

74
# 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

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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