CSNBAD1
MCID: NGH021
MIFTS: 32

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 56 73 13 71
Csnbad1 56 12 73
Congenital Stationary Night Blindness, Autosomal Dominant 1 29 6
Congenital Stationary Night Blindness Autosomal Dominant 1 12 15
Rhodopsin-Related Congenital Stationary Night Blindness 12 73
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 39
Night Blindness, Congenital Stationary, Rhodopsin-Related 56

Characteristics:

HPO:

31
night blindness, congenital stationary, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110862
OMIM 56 610445
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755
MedGen 41 C1864869
UMLS 71 C1864869

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

UniProtKB/Swiss-Prot : 73 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, also known as csnbad1, is related to autosomal dominant congenital stationary night blindness and retinitis pigmentosa 4. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include eye, bone 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

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant congenital stationary night blindness 10.2 RHO GNAT1
2 retinitis pigmentosa 4 10.1 RHO GNAT1
3 enhanced s-cone syndrome 10.1 RHO GNAT1
4 abnormal threshold of rods 10.0 GNAT1 CACNA1F
5 retinoschisis 1, x-linked, juvenile 10.0 RHO CACNA1F
6 pathologic nystagmus 9.9 RHO CACNA1F
7 night blindness 9.9 RHO GNAT1 CACNA1F
8 oguchi disease 9.8 RHO GNAT1 CACNA1F
9 night blindness, congenital stationary, type 1a 9.8 RHO GNAT1 CACNA1F
10 fundus albipunctatus 9.8 RHO GNAT1 CACNA1F
11 congenital stationary night blindness 9.8 RHO GNAT1 CACNA1F
12 retinitis pigmentosa 35 9.7 SEMA4A LSM8
13 myopia 9.7 RHO GNAT1 CACNA1F
14 achromatopsia 9.7 RHO CACNA1F
15 retinal degeneration 9.4 SEMA4A RHO GNAT1
16 retinal disease 9.2 SEMA4A RHO GNAT1 CACNA1F
17 cone-rod dystrophy 2 9.2 SEMA4A RHO CACNA1F
18 fundus dystrophy 8.8 SEMA4A RHO PRPF4 GNAT1 CACNA1F
19 retinitis pigmentosa 8.5 SEMA4A RHO PRPF4 LSM8 GNAT1 CACNA1F

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:



Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1

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

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

31
# Description HPO Frequency HPO Source Accession
1 visual field defect 31 HP:0001123
2 congenital stationary night blindness 31 HP:0007642
3 bone spicule pigmentation of the retina 31 HP:0007737
4 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Clinical features from OMIM:

610445

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 GNAT1 RHO SEMA4A

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:

40
Eye, Bone, 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. 56 6
9888392 1999
2
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 56 6
8358437 1993
3
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. 56
7846071 1995
4
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 6
8107847 1994
5
A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His)SNV Pathogenic 13013 rs104893768 3:129247644-129247644 3:129528801-129528801
2 RHO NM_000539.3(RHO):c.875C>A (p.Ala292Glu)SNV Pathogenic 13044 rs104893789 3:129251554-129251554 3:129532711-129532711
3 RHO NM_000539.3(RHO):c.269G>A (p.Gly90Asp)SNV Pathogenic 13045 rs104893790 3:129247845-129247845 3:129529002-129529002
4 RHO NM_000539.3(RHO):c.281C>T (p.Thr94Ile)SNV Pathogenic 13054 rs104893796 3:129247857-129247857 3:129529014-129529014
5 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val)SNV Pathogenic 417867 rs104893793 3:129249848-129249848 3:129531005-129531005

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

73
# 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

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 U2-type precatalytic spliceosome GO:0071005 9.37 PRPF4 LSM8
2 photoreceptor inner segment GO:0001917 9.32 RHO GNAT1
3 U4/U6 x U5 tri-snRNP complex GO:0046540 9.26 PRPF4 LSM8
4 photoreceptor disc membrane GO:0097381 9.16 RHO GNAT1
5 photoreceptor outer segment membrane GO:0042622 8.96 RHO GNAT1
6 photoreceptor outer segment GO:0001750 8.8 RHO GNAT1 CACNA1F

Biological processes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retina development in camera-type eye GO:0060041 9.43 RHO GNAT1
2 visual perception GO:0007601 9.43 RHO GNAT1 CACNA1F
3 phototransduction GO:0007602 9.4 RHO GNAT1
4 response to light stimulus GO:0009416 9.37 RHO GNAT1
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.32 RHO GNAT1
6 detection of light stimulus involved in visual perception GO:0050908 9.16 GNAT1 CACNA1F
7 rhodopsin mediated signaling pathway GO:0016056 8.96 RHO GNAT1
8 phototransduction, visible light GO:0007603 8.62 RHO GNAT1

Molecular functions related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 U6 snRNA binding GO:0017070 8.62 PRPF4 LSM8

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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