MCID: ATS169
MIFTS: 28

Autosomal Recessive Congenital Stationary Night Blindness

Categories: Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Autosomal Recessive Congenital Stationary Night Blindness

MalaCards integrated aliases for Autosomal Recessive Congenital Stationary Night Blindness:

Name: Autosomal Recessive Congenital Stationary Night Blindness 24
Autosomal Recessive Incomplete Congenital Stationary Night Blindness 24
Autosomal Recessive Complete Congenital Stationary Night Blindness 24

Classifications:



Summaries for Autosomal Recessive Congenital Stationary Night Blindness

Genetics Home Reference : 24 Autosomal recessive 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 may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).

MalaCards based summary : Autosomal Recessive Congenital Stationary Night Blindness, also known as autosomal recessive incomplete congenital stationary night blindness, is related to night blindness and congenital stationary night blindness. An important gene associated with Autosomal Recessive Congenital Stationary Night Blindness is SLC24A1 (Solute Carrier Family 24 Member 1), and among its related pathways/superpathways are CREB Pathway and G-Beta Gamma Signaling. Affiliated tissues include retina and eye, and related phenotypes are nervous system and vision/eye

Related Diseases for Autosomal Recessive Congenital Stationary Night Blindness

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



Diseases related to Autosomal Recessive Congenital Stationary Night Blindness

Symptoms & Phenotypes for Autosomal Recessive Congenital Stationary Night Blindness

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 GNAT1 GNB3 GRM6 SLC24A1
2 vision/eye MP:0005391 8.92 GNAT1 GNB3 GRM6 SLC24A1

Drugs & Therapeutics for Autosomal Recessive Congenital Stationary Night Blindness

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

Genetic Tests for Autosomal Recessive Congenital Stationary Night Blindness

Anatomical Context for Autosomal Recessive Congenital Stationary Night Blindness

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

38
Retina, Eye

Publications for Autosomal Recessive Congenital Stationary Night Blindness

Articles related to Autosomal Recessive Congenital Stationary Night Blindness:

# Title Authors Year
1
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )
2016
2
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )
2016
3
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )
2015
4
GNAT1 associated with autosomal recessive congenital stationary night blindness. ( 22190596 )
2012
5
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. ( 20850105 )
2010
6
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. ( 16249515 )
2005

Variations for Autosomal Recessive Congenital Stationary Night Blindness

Expression for Autosomal Recessive Congenital Stationary Night Blindness

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

Pathways for Autosomal Recessive Congenital Stationary Night Blindness

Pathways related to Autosomal Recessive Congenital Stationary Night Blindness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 GNAT1 GNB3 GRM6
2
Show member pathways
12 GNAT1 GNB3 GRM6
3
Show member pathways
11.9 GNAT1 GNB3
4 11.88 GNAT1 GNB3
5
Show member pathways
11.82 GNAT1 GNB3
6
Show member pathways
11.79 GNAT1 GNB3
7
Show member pathways
11.65 GNAT1 SLC24A1
8
Show member pathways
11.35 GNB3 GRM6
9
Show member pathways
10.99 GNAT1 GNB3 SLC24A1
10 10.52 GNAT1 SLC24A1

GO Terms for Autosomal Recessive Congenital Stationary Night Blindness

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway GO:0007186 9.58 GNAT1 GNB3 GRM6
2 response to stimulus GO:0050896 9.5 GNAT1 GRM6 SLC24A1
3 protein folding GO:0006457 9.37 GNAT1 GNB3
4 retina development in camera-type eye GO:0060041 9.26 GNAT1 GRM6
5 detection of light stimulus involved in visual perception GO:0050908 9.16 GNAT1 GRM6
6 visual perception GO:0007601 9.13 GNAT1 GRM6 SLC24A1
7 response to light intensity GO:0009642 8.62 GNAT1 SLC24A1

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 8.96 GNAT1 GNB3
2 signal transducer activity GO:0004871 8.8 GNAT1 GNB3 GRM6

Sources for Autosomal Recessive Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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