MCID: ATS168
MIFTS: 24

Autosomal Dominant Congenital Stationary Night Blindness

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Congenital Stationary Night Blindness

MalaCards integrated aliases for Autosomal Dominant Congenital Stationary Night Blindness:

Name: Autosomal Dominant Congenital Stationary Night Blindness 43
Night Blindness, Congenital Stationary, Autosomal Dominant 43
Adcsnb 43
Csnbad 43

Classifications:



Summaries for Autosomal Dominant Congenital Stationary Night Blindness

MedlinePlus Genetics : 43 Autosomal dominant congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they are not able to identify road signs at night and some people cannot see stars in the night sky. Affected individuals have normal daytime vision and typically do not have other vision problems related to this disorder.The night blindness associated with this condition is congenital, which means it is present from birth. This vision impairment tends to remain stable (stationary); it does not worsen over time.

MalaCards based summary : Autosomal Dominant Congenital Stationary Night Blindness, also known as night blindness, congenital stationary, autosomal dominant, is related to night blindness, congenital stationary, autosomal dominant 1 and retinitis. An important gene associated with Autosomal Dominant Congenital Stationary Night Blindness is GNAT1 (G Protein Subunit Alpha Transducin 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye and retina, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Autosomal Dominant Congenital Stationary Night Blindness

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 Autosomal Dominant Congenital Stationary Night Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, autosomal dominant 1 30.1 RHO GNAT1
2 retinitis 30.0 RHO PDE6B
3 congenital stationary night blindness 29.8 RHO PDE6B GNAZ GNAT1
4 night blindness 29.8 RHO PDE6B GNAZ GNAT1
5 retinal degeneration 29.6 RHO PDE6B GNAT1
6 yemenite deaf-blind hypopigmentation syndrome 10.7
7 night blindness, congenital stationary, autosomal dominant 2 10.3
8 retinitis pigmentosa 10.3
9 night blindness, congenital stationary, autosomal dominant 3 10.3
10 neuroretinitis 10.3
11 abnormal threshold of rods 9.9 PDE6B GNAT1
12 retinitis pigmentosa 4 9.8 RHO GNAT1
13 enhanced s-cone syndrome 9.8 RHO GNAT1
14 color blindness 9.7 RHO PDE6B
15 degeneration of macula and posterior pole 9.7 RHO PDE6B
16 late-onset retinal degeneration 9.7 RHO PDE6B
17 usher syndrome type 2 9.7 RHO PDE6B
18 eye degenerative disease 9.7 RHO PDE6B
19 stargardt disease 9.6 RHO PDE6B
20 sensory system disease 9.6 RHO PDE6B
21 usher syndrome, type i 9.5 RHO PDE6B
22 oguchi disease 9.5 RHO PDE6B GNAT1
23 fundus albipunctatus 9.5 RHO PDE6B GNAT1
24 achromatopsia 9.5 RHO PDE6B GNAZ
25 retinal disease 9.5 RHO PDE6B GNAT1
26 myopia 9.5 RHO PDE6B GNAT1
27 leber plus disease 9.4 RHO PDE6B GNAT1
28 cone dystrophy 9.4 RHO PDE6B
29 fundus dystrophy 9.4 RHO PDE6B GNAT1
30 cone-rod dystrophy 2 9.3 RHO PDE6B GNAT1

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



Diseases related to Autosomal Dominant Congenital Stationary Night Blindness

Symptoms & Phenotypes for Autosomal Dominant Congenital Stationary Night Blindness

GenomeRNAi Phenotypes related to Autosomal Dominant Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.28 PDE6B
2 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.28 GNAT1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-167 9.28 GNAT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.28 GNAT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.28 GNAT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-55 9.28 PDE6B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.28 GNAT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.28 GNAT1 PDE6B

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 GNAT1 PDE6B RHO

Drugs & Therapeutics for Autosomal Dominant Congenital Stationary Night Blindness

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

Genetic Tests for Autosomal Dominant Congenital Stationary Night Blindness

Anatomical Context for Autosomal Dominant Congenital Stationary Night Blindness

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

40
Eye, Retina

Publications for Autosomal Dominant Congenital Stationary Night Blindness

Articles related to Autosomal Dominant Congenital Stationary Night Blindness:

(show all 14)
# Title Authors PMID Year
1
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy. 61
31583501 2020
2
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. 61
29850563 2018
3
Mechanisms of mutant PDE6 proteins underlying retinal diseases. 61
28583373 2017
4
Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation. 61
26427453 2016
5
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit. 61
24760071 2014
6
[Mutation analysis of pathogenic genes in a Henan family affected with congenital stationary night blindness]. 61
22487821 2012
7
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. 61
18487375 2008
8
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. 61
17584859 2007
9
[Exclusion of the association of five known mutations with congenital stationary nyctalopia in a large Chinese family]. 61
15940795 2005
10
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. 61
9888392 1999
11
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. 61
8075643 1994
12
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. 61
8004102 1994
13
A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity. 61
1488221 1992
14
Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram. 61
2297031 1990

Variations for Autosomal Dominant Congenital Stationary Night Blindness

Expression for Autosomal Dominant Congenital Stationary Night Blindness

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

Pathways for Autosomal Dominant Congenital Stationary Night Blindness

GO Terms for Autosomal Dominant Congenital Stationary Night Blindness

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.33 RHO PDE6B GNAT1
2 photoreceptor inner segment GO:0001917 9.32 RHO GNAT1
3 heterotrimeric G-protein complex GO:0005834 9.26 GNAZ GNAT1
4 photoreceptor disc membrane GO:0097381 9.13 RHO PDE6B GNAT1
5 photoreceptor outer segment membrane GO:0042622 8.8 RHO PDE6B GNAT1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.81 RHO PDE6B GNAZ GNAT1
2 G protein-coupled receptor signaling pathway GO:0007186 9.71 RHO GNAZ GNAT1
3 response to stimulus GO:0050896 9.67 RHO PDE6B GNAT1
4 visual perception GO:0007601 9.54 RHO PDE6B GNAT1
5 protein folding GO:0006457 9.52 GNAZ GNAT1
6 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.48 GNAZ GNAT1
7 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.46 GNAZ GNAT1
8 phototransduction GO:0007602 9.43 RHO GNAT1
9 retina development in camera-type eye GO:0060041 9.43 RHO PDE6B GNAT1
10 response to light stimulus GO:0009416 9.4 RHO GNAT1
11 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 RHO PDE6B GNAT1
12 detection of light stimulus GO:0009583 9.32 RHO PDE6B
13 rhodopsin mediated signaling pathway GO:0016056 9.13 RHO PDE6B GNAT1
14 phototransduction, visible light GO:0007603 8.8 RHO PDE6B GNAT1

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor binding GO:0001664 9.16 GNAZ GNAT1
2 G-protein beta/gamma-subunit complex binding GO:0031683 8.96 GNAZ GNAT1
3 guanyl nucleotide binding GO:0019001 8.62 GNAZ GNAT1

Sources for Autosomal Dominant Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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