CSNB1B
MCID: NGH007
MIFTS: 33

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 56 71
Night Blindness, Congenital Stationary , 1b, Autosomal Recessive 56 29 13
Csnb1b 56 12 73
Congenital Stationary Night Blindness, Type 1b 29 6
Congenital Stationary Night Blindness 1b 12 15
Night Blindness, Congenital Stationary, Complete, Autosomal Recessive 56
Autosomal Recessive Complete Congenital Stationary Night Blindness 12
Complete Congenital Stationary Night Blindness Autosomal Recessive 73
Congenital Stationary Night Blindness 1b Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1b 39
Night Blindness, Congenital Stationary, 1b 73
Csnb, Complete, Autosomal Recessive 56
Complete Autosomal Recessive Csnb 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
night blindness, congenital stationary, type 1b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110865
OMIM 56 257270
OMIM Phenotypic Series 56 PS310500
MeSH 43 D009755
MedGen 41 C1850362
UMLS 71 C1850362

Summaries for Night Blindness, Congenital Stationary, Type 1b

UniProtKB/Swiss-Prot : 73 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 night blindness, congenital stationary , 1b, autosomal recessive, is related to night blindness, congenital stationary, type 1e and night blindness, congenital stationary, type 1c. 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.

More information from OMIM: 257270 PS310500

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

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 Night Blindness, Congenital Stationary, Type 1b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1e 32.0 NYX GPR179
2 night blindness, congenital stationary, type 1c 30.9 TRPM1 NYX GRM6 GPR179
3 night blindness 28.9 TRPM1 NYX LRIT3 GRM6 GPR179
4 myopia 28.8 TRPM1 NYX LRIT3 GRM6
5 congenital stationary night blindness 27.6 TRPM1 NYX LRIT3 GRM6 GPR179 GPR158
6 autosomal recessive congenital stationary night blindness 12.1
7 night blindness, congenital stationary, type 1d 11.5
8 yemenite deaf-blind hypopigmentation syndrome 10.6
9 strabismus 10.3
10 night blindness, congenital stationary, type 1f 10.3
11 mechanical strabismus 10.3
12 pathologic nystagmus 10.3
13 conjunctival pigmentation 9.9 NYX GRM6
14 oguchi disease 9.8 NYX GRM6
15 abnormal threshold of rods 9.4 TRPM1 GRM6 GPR179
16 retinoschisis 1, x-linked, juvenile 9.3 TRPM1 NYX GRM6
17 night blindness, congenital stationary, type 1a 9.3 NYX LRIT3 GRM6 GPR179
18 fundus dystrophy 9.1 TRPM1 NYX GRM6
19 retinitis pigmentosa 8.6 TRPM1 NYX GRM6 GPR179

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

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

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 congenital stationary night blindness 31 HP:0007642
3 hemeralopia 31 HP:0012047

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
myopia
hemeralopia
night blindness

Clinical features from OMIM:

257270

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

45
# 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
2 Night Blindness, Congenital Stationary (complete), 1b, Autosomal Recessive 29

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

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

40
Eye

Publications for Night Blindness, Congenital Stationary, Type 1b

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

# Title Authors PMID Year
1
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. 56 6
16249515 2005
2
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. 56 6
15781871 2005
3
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. 56 6
11874764 2002
4
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. 6
17405131 2007
5
Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis. 56
15551339 2005
6
Congenital stationary night blindness presenting as Leber's congenital amaurosis. 56
3493759 1987
7
Congenital stationary night blindness with negative electroretinogram. A new classification. 56
3488053 1986
8
The autosomal recessive variety of congenital stationary night-blindness with myopia. 56
4537233 1972
9
Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families. 56
5311788 1970
10
Sequence variations of GRM6 in patients with high myopia. 61
19862333 2009

Variations for Night Blindness, Congenital Stationary, Type 1b

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

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRM6 NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter)SNV Pathogenic 5840 rs62638214 5:178413394-178413394 5:178986393-178986393
2 GRM6 NM_000843.4(GRM6):c.2341G>A (p.Glu781Lys)SNV Pathogenic 5841 rs62638625 5:178410006-178410006 5:178983005-178983005
3 GRM6 NM_000843.4(GRM6):c.2122C>T (p.Gln708Ter)SNV Pathogenic 5842 rs62638624 5:178413133-178413133 5:178986132-178986132
4 GRM6 NM_000843.4(GRM6):c.448G>A (p.Gly150Ser)SNV Pathogenic 5843 rs62638202 5:178421498-178421498 5:178994497-178994497
5 GRM6 GRM6, 1-BP INS, 720Ginsertion Pathogenic 5845
6 GRM6 NM_000843.4(GRM6):c.1565G>A (p.Cys522Tyr)SNV Pathogenic 5846 rs62638208 5:178413690-178413690 5:178986689-178986689
7 GRM6 NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr)SNV Likely pathogenic 5847 rs121434304 5:178416076-178416076 5:178989075-178989075
8 GRM6 NM_000843.4(GRM6):c.137C>T (p.Pro46Leu)SNV Likely pathogenic 5844 rs62638197 5:178421809-178421809 5:178994808-178994808
9 GRM6 NM_000843.4(GRM6):c.1537G>A (p.Val513Met)SNV Uncertain significance 225382 rs201396068 5:178413718-178413718 5:178986717-178986717
10 GRM6 NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile)SNV Benign/Likely benign 198107 rs5019554 5:178415983-178415983 5:178988982-178988982
11 GRM6 NM_000843.4(GRM6):c.1875C>T (p.Tyr625=)SNV Benign/Likely benign 93439 rs62638215 5:178413380-178413380 5:178986379-178986379
12 GRM6 NM_000843.4(GRM6):c.1533C>T (p.His511=)SNV Benign 522285 rs61733043 5:178413722-178413722 5:178986721-178986721

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

73
# 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

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 integral component of membrane GO:0016021 9.43 TRPM1 LRIT3 GRM6 GPR179 GPR158 GPR156
2 new growing cell tip GO:0035841 8.62 TRPM1 GRM6

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.56 GRM6 GPR179 GPR158 GPR156
2 protein localization to plasma membrane GO:0072659 9.32 GPR179 GPR158
3 response to stimulus GO:0050896 9.26 TRPM1 NYX LRIT3 GRM6
4 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.16 TRPM1 GRM6
5 visual perception GO:0007601 9.02 TRPM1 NYX LRIT3 GRM6 GPR179

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 8.8 GRM6 GPR179 GPR158

Sources for Night Blindness, Congenital Stationary, Type 1b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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