MCID: ATS169
MIFTS: 28

Autosomal Recessive Congenital Stationary Night Blindness

Categories: Eye diseases, Genetic diseases, Mental diseases, Rare 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 26
Autosomal Recessive Incomplete Congenital Stationary Night Blindness 26
Autosomal Recessive Complete Congenital Stationary Night Blindness 26

Classifications:



Summaries for Autosomal Recessive Congenital Stationary Night Blindness

Genetics Home Reference : 26 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 congenital stationary night blindness and 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 eye and retina, and related phenotypes are nervous system and vision/eye

Related Diseases for Autosomal Recessive 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 Recessive Congenital Stationary Night Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 congenital stationary night blindness 29.5 GNAT1 GNB3 GRM6 SLC24A1
2 night blindness 29.4 GNAT1 GNB3 GRM6 SLC24A1
3 night blindness, congenital stationary, type 1b 12.0
4 night blindness, congenital stationary, type 1d 11.9
5 night blindness, congenital stationary, type 1f 11.7
6 night blindness, congenital stationary, type 1c 11.6
7 night blindness, congenital stationary, type 1e 11.6
8 yemenite deaf-blind hypopigmentation syndrome 10.6
9 night blindness, congenital stationary, type 1g 10.3
10 night blindness, congenital stationary, type 1h 10.3
11 oguchi disease 9.4 GNAT1 GRM6

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:

47
# 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:

42
Eye, Retina

Publications for Autosomal Recessive Congenital Stationary Night Blindness

Articles related to Autosomal Recessive Congenital Stationary Night Blindness:

# Title Authors Year
1
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )
2016
2
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )
2016
3
A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )
2015
4
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. ( 23246293 )
2013
5
GNAT1 associated with autosomal recessive congenital stationary night blindness. ( 22190596 )
2012
6
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. ( 22325361 )
2012
7
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. ( 22325362 )
2012
8
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. ( 20850105 )
2010
9
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. ( 19896113 )
2009
10
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:

(show all 11)
# 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
11.94 GNAT1 GNB3
4 11.88 GNAT1 GNB3
5
Show member pathways
11.84 GNAT1 GNB3
6
Show member pathways
11.81 GNAT1 GNB3
7
Show member pathways
11.73 GNAT1 SLC24A1
8
Show member pathways
11.41 GNB3 GRM6
9 11.13 GNAT1 SLC24A1
10
Show member pathways
10.99 GNAT1 GNB3 SLC24A1
11 10.62 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 9.43 GNAT1 GRM6 SLC24A1
3 protein folding GO:0006457 9.37 GNAT1 GNB3
4 retina development in camera-type eye GO:0060041 9.32 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

Sources for Autosomal Recessive Congenital Stationary Night Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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