MCID: ATS168
MIFTS: 27

Autosomal Dominant Congenital Stationary Night Blindness

Categories: Genetic diseases, Eye 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 25
Night Blindness, Congenital Stationary, Autosomal Dominant 25
Adcsnb 25
Csnbad 25

Classifications:



Summaries for Autosomal Dominant Congenital Stationary Night Blindness

Genetics Home Reference : 25 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.

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 3 and night blindness, congenital stationary, autosomal dominant 2. An important gene associated with Autosomal Dominant Congenital Stationary Night Blindness is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina and eye, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and nervous system

Related Diseases for Autosomal Dominant Congenital Stationary Night Blindness

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Type 1g
Night Blindness, Congenital Stationary, Autosomal Dominant 1 Night Blindness, Congenital Stationary, Autosomal Dominant 2
Night Blindness, Congenital Stationary , 1f, Autosomal Recessive Night Blindness, Congenital Stationary , 1b, Autosomal Recessive
Night Blindness, Congenital Stationary, Type 1h Night Blindness, Congenital Stationary , 1c, Autosomal Recessive
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive Night Blindness, Congenital Stationary , 1e, Autosomal Recessive
Congenital Stationary Night Blindness, Type 2b 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 13)
id Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, autosomal dominant 3 11.4
2 night blindness, congenital stationary, autosomal dominant 2 11.4
3 night blindness, congenital stationary, autosomal dominant 1 11.2
4 congenital stationary night blindness 10.5
5 night blindness 10.5
6 osteopoikilosis and dacryocystitis 9.5 PDE6B RHO
7 hereditary breast ovarian cancer 9.4 PDE6B RHO
8 whipple disease 9.2 PDE6B RHO
9 combined oxidative phosphorylation deficiency 3 9.0 GNAT1 PDE6B RHO
10 fundus dystrophy 8.9 GNAT1 PDE6B RHO
11 scar contracture 8.9 GNAT1 PDE6B RHO
12 collagen vi-related myopathy 8.5 GNAT1 GNAZ PDE6B RHO
13 posterior polar cataract 8.5 GNAT1 GNAZ PDE6B RHO

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.77 GNAT1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-144 9.77 GNAT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.77 GNAT1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.77 PDE6B
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.77 PDE6B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.77 GNAT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.77 GNAT1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.77 PDE6B
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.77 GNAT1 PDE6B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.77 PDE6B
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.77 GNAT1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-94 9.77 PDE6B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.32 PDE6B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.32 PDE6B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 PDE6B
16 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.32 PDE6B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.32 PDE6B RHO
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.32 RHO
19 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.32 PDE6B
20 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.32 RHO
21 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.32 PDE6B

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 GNAT1 GNAZ PDE6B RHO
2 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:

39
Retina, Eye

Publications for Autosomal Dominant Congenital Stationary Night Blindness

Articles related to Autosomal Dominant Congenital Stationary Night Blindness:

id Title Authors Year
1
A truncated form of rod photoreceptor PDE6 I^-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the I^-subunit. ( 24760071 )
2014
2
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness. ( 17584859 )
2007
3
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. ( 9888392 )
1999
4
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. ( 8004102 )
1994
5
A Japanese pedigree of autosomal dominant congenital stationary night blindness with variable expressivity. ( 1488221 )
1992
6
Autosomal dominant congenital stationary night blindness and normal fundus with an electronegative electroretinogram. ( 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:

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.32 GNAT1 RHO
2 photoreceptor inner segment GO:0001917 9.26 GNAT1 RHO
3 heterotrimeric G-protein complex GO:0005834 9.16 GNAT1 GNAZ
4 photoreceptor outer segment membrane GO:0042622 8.96 GNAT1 RHO
5 photoreceptor disc membrane GO:0097381 8.8 GNAT1 PDE6B RHO

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.8 GNAT1 GNAZ PDE6B RHO
2 G-protein coupled receptor signaling pathway GO:0007186 9.69 GNAT1 GNAZ RHO
3 response to stimulus GO:0050896 9.65 GNAT1 PDE6B RHO
4 visual perception GO:0007601 9.54 GNAT1 PDE6B RHO
5 protein folding GO:0006457 9.52 GNAT1 GNAZ
6 adenylate cyclase-modulating G-protein coupled receptor signaling pathway GO:0007188 9.46 GNAT1 GNAZ
7 phototransduction GO:0007602 9.43 GNAT1 RHO
8 retina development in camera-type eye GO:0060041 9.43 GNAT1 PDE6B RHO
9 response to light stimulus GO:0009416 9.4 GNAT1 RHO
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.33 GNAT1 PDE6B RHO
11 detection of light stimulus GO:0009583 9.32 PDE6B RHO
12 rhodopsin mediated signaling pathway GO:0016056 9.13 GNAT1 PDE6B RHO
13 phototransduction, visible light GO:0007603 8.8 GNAT1 PDE6B RHO

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.33 GNAT1 GNAZ RHO
2 G-protein coupled receptor binding GO:0001664 9.26 GNAT1 GNAZ
3 G-protein beta/gamma-subunit complex binding GO:0031683 8.96 GNAT1 GNAZ
4 guanyl nucleotide binding GO:0019001 8.62 GNAT1 GNAZ

Sources for Autosomal Dominant Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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