CSNB1B
MCID: NGH007
MIFTS: 32

Night Blindness, Congenital Stationary, Type 1b (CSNB1B)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1b

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1b:

Name: Night Blindness, Congenital Stationary, Type 1b 57 73
Csnb1b 57 12 75
Night Blindness, Congenital Stationary , 1b, Autosomal Recessive 57 13
Congenital Stationary Night Blindness, Type 1b 29 6
Congenital Stationary Night Blindness 1b 12 15
Night Blindness, Congenital Stationary, Complete, Autosomal Recessive 57
Autosomal Recessive Complete Congenital Stationary Night Blindness 12
Complete Congenital Stationary Night Blindness Autosomal Recessive 75
Congenital Stationary Night Blindness 1b Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1b 40
Night Blindness, Congenital Stationary, 1b 75
Csnb, Complete, Autosomal Recessive 57
Complete Autosomal Recessive Csnb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
night blindness, congenital stationary, type 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 257270
Disease Ontology 12 DOID:0110865
MedGen 42 C1850362
MeSH 44 D009755
UMLS 73 C1850362

Summaries for Night Blindness, Congenital Stationary, Type 1b

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, 1B: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1B is an autosomal recessive form associated with a negative electroretinogram waveform. Patients are night blind from an early age, and when maximally dark- adapted, they could perceive lights only with an intensity equal to or slightly dimmer than that normally detected by the cone system. ERGs in response to single brief flashes of light have clearly detectable a-waves, which are derived from photoreceptors, and greatly reduced b- waves, which are derived from the second-order inner retinal neurons. ERGs in response to sawtooth flickering light indicate a markedly reduced on response and a nearly normal OFF response. There is no subjective delay in the perception of suddenly appearing white vs black objects on a gray background.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1b, also known as csnb1b, is related to night blindness, congenital stationary, type 1e and night blindness. An important gene associated with Night Blindness, Congenital Stationary, Type 1b is GRM6 (Glutamate Metabotropic Receptor 6). Affiliated tissues include eye, and related phenotypes are myopia and congenital stationary night blindness

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in mutation in the GRM6 gene on chromosome 5q35.

Description from OMIM: 257270

Related Diseases for Night Blindness, Congenital Stationary, Type 1b

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



Diseases related to Night Blindness, Congenital Stationary, Type 1b

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1b

Symptoms via clinical synopsis from OMIM:

57
H E E N T:
myopia
hemeralopia
night blindness


Clinical features from OMIM:

257270

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1b:

32
# Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 congenital stationary night blindness 32 HP:0007642
3 hemeralopia 32 HP:0012047

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 GPR179 GRM6 LRIT3 NYX TRPM1

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1b

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1b

Genetic Tests for Night Blindness, Congenital Stationary, Type 1b

Genetic tests related to Night Blindness, Congenital Stationary, Type 1b:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1b 29 GRM6

Anatomical Context for Night Blindness, Congenital Stationary, Type 1b

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1b:

41
Eye

Publications for Night Blindness, Congenital Stationary, Type 1b

Articles related to Night Blindness, Congenital Stationary, Type 1b:

# Title Authors Year
1
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. ( 23246293 )
2013
2
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. ( 22325362 )
2012
3
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. ( 22325361 )
2012
4
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. ( 19896113 )
2009

Variations for Night Blindness, Congenital Stationary, Type 1b

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

75
# Symbol AA change Variation ID SNP ID
1 GRM6 p.Gly150Ser VAR_030756 rs62638202
2 GRM6 p.Glu781Lys VAR_030757 rs62638625
3 GRM6 p.Pro46Leu VAR_069817 rs62638197
4 GRM6 p.Gly58Arg VAR_069818 rs62638198
5 GRM6 p.Ile405Thr VAR_069819 rs121434304
6 GRM6 p.Cys522Tyr VAR_069820 rs62638208

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1b:

6 (show all 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRM6 NM_000843.3(GRM6): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs62638214 GRCh37 Chromosome 5, 178413394: 178413394
2 GRM6 NM_000843.3(GRM6): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs62638214 GRCh38 Chromosome 5, 178986393: 178986393
3 GRM6 NM_000843.3(GRM6): c.2341G> A (p.Glu781Lys) single nucleotide variant Pathogenic rs62638625 GRCh37 Chromosome 5, 178410006: 178410006
4 GRM6 NM_000843.3(GRM6): c.2341G> A (p.Glu781Lys) single nucleotide variant Pathogenic rs62638625 GRCh38 Chromosome 5, 178983005: 178983005
5 GRM6 NM_000843.3(GRM6): c.2122C> T (p.Gln708Ter) single nucleotide variant Pathogenic rs62638624 GRCh37 Chromosome 5, 178413133: 178413133
6 GRM6 NM_000843.3(GRM6): c.2122C> T (p.Gln708Ter) single nucleotide variant Pathogenic rs62638624 GRCh38 Chromosome 5, 178986132: 178986132
7 GRM6 NM_000843.3(GRM6): c.448G> A (p.Gly150Ser) single nucleotide variant Pathogenic rs62638202 GRCh37 Chromosome 5, 178421498: 178421498
8 GRM6 NM_000843.3(GRM6): c.448G> A (p.Gly150Ser) single nucleotide variant Pathogenic rs62638202 GRCh38 Chromosome 5, 178994497: 178994497
9 GRM6 NM_000843.3(GRM6): c.137C> T (p.Pro46Leu) single nucleotide variant Likely pathogenic rs62638197 GRCh37 Chromosome 5, 178421809: 178421809
10 GRM6 NM_000843.3(GRM6): c.137C> T (p.Pro46Leu) single nucleotide variant Likely pathogenic rs62638197 GRCh38 Chromosome 5, 178994808: 178994808
11 GRM6 GRM6, 1-BP INS, 720G insertion Pathogenic
12 GRM6 NM_000843.3(GRM6): c.1565G> A (p.Cys522Tyr) single nucleotide variant Pathogenic rs62638208 GRCh37 Chromosome 5, 178413690: 178413690
13 GRM6 NM_000843.3(GRM6): c.1565G> A (p.Cys522Tyr) single nucleotide variant Pathogenic rs62638208 GRCh38 Chromosome 5, 178986689: 178986689
14 GRM6 NM_000843.3(GRM6): c.1214T> C (p.Ile405Thr) single nucleotide variant Likely pathogenic rs121434304 GRCh37 Chromosome 5, 178416076: 178416076
15 GRM6 NM_000843.3(GRM6): c.1214T> C (p.Ile405Thr) single nucleotide variant Likely pathogenic rs121434304 GRCh38 Chromosome 5, 178989075: 178989075
16 GRM6 NM_000843.3(GRM6): c.1875C> T (p.Tyr625=) single nucleotide variant Benign/Likely benign rs62638215 GRCh37 Chromosome 5, 178413380: 178413380
17 GRM6 NM_000843.3(GRM6): c.1875C> T (p.Tyr625=) single nucleotide variant Benign/Likely benign rs62638215 GRCh38 Chromosome 5, 178986379: 178986379
18 GRM6 NM_000843.3(GRM6): c.1307C> T (p.Thr436Ile) single nucleotide variant Benign/Likely benign rs5019554 GRCh37 Chromosome 5, 178415983: 178415983
19 GRM6 NM_000843.3(GRM6): c.1307C> T (p.Thr436Ile) single nucleotide variant Benign/Likely benign rs5019554 GRCh38 Chromosome 5, 178988982: 178988982
20 GRM6 NM_000843.3(GRM6): c.1462C> T (p.Gln488Ter) single nucleotide variant Pathogenic rs748979061 GRCh37 Chromosome 5, 178413877: 178413877
21 GRM6 NM_000843.3(GRM6): c.1462C> T (p.Gln488Ter) single nucleotide variant Pathogenic rs748979061 GRCh38 Chromosome 5, 178986876: 178986876
22 GRM6 NM_000843.3(GRM6): c.1537G> A (p.Val513Met) single nucleotide variant Uncertain significance rs201396068 GRCh38 Chromosome 5, 178986717: 178986717
23 GRM6 NM_000843.3(GRM6): c.1537G> A (p.Val513Met) single nucleotide variant Uncertain significance rs201396068 GRCh37 Chromosome 5, 178413718: 178413718
24 GRM6 NM_000843.3(GRM6): c.1533C> T (p.His511=) single nucleotide variant Benign rs61733043 GRCh38 Chromosome 5, 178986721: 178986721
25 GRM6 NM_000843.3(GRM6): c.1533C> T (p.His511=) single nucleotide variant Benign rs61733043 GRCh37 Chromosome 5, 178413722: 178413722

Expression for Night Blindness, Congenital Stationary, Type 1b

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1b.

Pathways for Night Blindness, Congenital Stationary, Type 1b

GO Terms for Night Blindness, Congenital Stationary, Type 1b

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

# Name GO ID Score Top Affiliating Genes
1 new growing cell tip GO:0035841 8.62 GRM6 TRPM1

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.26 GRM6 LRIT3 NYX TRPM1
2 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.16 GRM6 TRPM1
3 visual perception GO:0007601 9.02 GPR179 GRM6 LRIT3 NYX TRPM1

Sources for Night Blindness, Congenital Stationary, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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