CSNB1E
MCID: NGH029
MIFTS: 28

Night Blindness, Congenital Stationary, Type 1e (CSNB1E)

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

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

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

Name: Night Blindness, Congenital Stationary, Type 1e 58 74
Csnb1e 58 12 76
Night Blindness, Congenital Stationary , 1e, Autosomal Recessive 58 13
Congenital Stationary Night Blindness, Type 1e 30 6
Congenital Stationary Night Blindness 1e Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1e 41
Night Blindness, Congenital Stationary, 1e 76
Congenital Stationary Night Blindness 1e 12
Csnb, Complete, Autosomal Recessive 58
Complete Autosomal Recessive Csnb 76
Csnb1 56

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
night blindness, congenital stationary, type 1e:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110869
OMIM 58 614565
MeSH 45 D009755
MedGen 43 C3281215
UMLS 74 C3281215

Summaries for Night Blindness, Congenital Stationary, Type 1e

OMIM : 58 Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impairment of night vision, absence of the electroretinogram (ERG) b-wave, and variable degrees of involvement of other visual functions. Individuals with cCSNB and animal models of the disorder have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells (summary by Peachey et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (614565)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1e, also known as csnb1e, is related to night blindness, congenital stationary, type 1b and congenital stationary night blindness. An important gene associated with Night Blindness, Congenital Stationary, Type 1e is GPR179 (G Protein-Coupled Receptor 179). Affiliated tissues include eye, and related phenotypes are strabismus and nystagmus

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, 1E: An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells.

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

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 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 night blindness, congenital stationary, type 1b 31.9 GPR179 NYX
2 congenital stationary night blindness 31.2 CACNA1F GPR179 NLRP12 NYX
3 night blindness 29.6 CACNA1F GPR179 NYX
4 achromatopsia 29.5 CACNA1F NYX
5 x-linked congenital stationary night blindness 29.5 CACNA1F NLRP12 NYX
6 myopia 29.2 CACNA1F NYX
7 night blindness, congenital stationary, type 1c 11.4
8 night blindness, congenital stationary, type 1d 11.4
9 night blindness, congenital stationary, type 1f 11.4
10 night blindness, congenital stationary, type 1a 11.1
11 nystagmus 1, congenital, x-linked 11.1
12 keratoconus 10.2
13 night blindness, congenital stationary, type 2a 9.7 CACNA1F NYX
14 oguchi disease 9.7 CACNA1F NYX
15 aland island eye disease 9.7 CACNA1F NYX
16 achromatopsia 3 9.7 CACNA1F NYX
17 retinal disease 9.6 CACNA1F NYX

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



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

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

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

33
# Description HPO Frequency HPO Source Accession
1 strabismus 33 occasional (7.5%) HP:0000486
2 nystagmus 33 HP:0000639
3 myopia 33 HP:0000545
4 reduced visual acuity 33 HP:0007663
5 congenital stationary night blindness 33 HP:0007642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
decreased visual acuity
strabismus (in some patients)
night blindness, congenital
absent or reduced b-wave on electroretinography
myopia, mild to severe
more

Clinical features from OMIM:

614565

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 CACNA1F GPR179 NYX

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

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

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

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

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1e 30 GPR179

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

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

42
Eye

Publications for Night Blindness, Congenital Stationary, Type 1e

Variations for Night Blindness, Congenital Stationary, Type 1e

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

76
# Symbol AA change Variation ID SNP ID
1 GPR179 p.Asp126His VAR_067925 rs281875233
2 GPR179 p.Tyr220Cys VAR_067926 rs281875236
3 GPR179 p.Gly455Asp VAR_067927 rs281875235
4 GPR179 p.His603Tyr VAR_067928 rs281875234

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

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR179 NM_001004334.3(GPR179): c.1807C> T (p.His603Tyr) single nucleotide variant Pathogenic rs281875234 GRCh37 Chromosome 17, 36489899: 36489899
2 GPR179 NM_001004334.3(GPR179): c.1807C> T (p.His603Tyr) single nucleotide variant Pathogenic rs281875234 GRCh38 Chromosome 17, 38334016: 38334016
3 GPR179 NM_001004334.3(GPR179): c.278delC (p.Pro93Glnfs) deletion Pathogenic rs794726685 GRCh37 Chromosome 17, 36499395: 36499395
4 GPR179 NM_001004334.3(GPR179): c.278delC (p.Pro93Glnfs) deletion Pathogenic rs794726685 GRCh38 Chromosome 17, 38343512: 38343512
5 GPR179 NM_001004334.3(GPR179): c.598C> T (p.Arg200Ter) single nucleotide variant Pathogenic rs387907138 GRCh37 Chromosome 17, 36499075: 36499075
6 GPR179 NM_001004334.3(GPR179): c.598C> T (p.Arg200Ter) single nucleotide variant Pathogenic rs387907138 GRCh38 Chromosome 17, 38343192: 38343192
7 GPR179 NM_001004334.3(GPR179): c.1784+1G> A single nucleotide variant Pathogenic rs773126191 GRCh37 Chromosome 17, 36490586: 36490586
8 GPR179 NM_001004334.3(GPR179): c.1784+1G> A single nucleotide variant Pathogenic rs773126191 GRCh38 Chromosome 17, 38334703: 38334703
9 GPR179 NM_001004334.3(GPR179): c.984delC (p.Ser329Leufs) deletion Pathogenic/Likely pathogenic rs770066665 GRCh37 Chromosome 17, 36493523: 36493523
10 GPR179 NM_001004334.3(GPR179): c.984delC (p.Ser329Leufs) deletion Pathogenic/Likely pathogenic rs770066665 GRCh38 Chromosome 17, 38337640: 38337640
11 GPR179 NM_001004334.3(GPR179): c.187delC (p.Leu63Serfs) deletion Pathogenic rs794726686 GRCh37 Chromosome 17, 36499486: 36499486
12 GPR179 NM_001004334.3(GPR179): c.187delC (p.Leu63Serfs) deletion Pathogenic rs794726686 GRCh38 Chromosome 17, 38343603: 38343603
13 GPR179 NM_001004334.3(GPR179): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs281875236 GRCh37 Chromosome 17, 36499014: 36499014
14 GPR179 NM_001004334.3(GPR179): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs281875236 GRCh38 Chromosome 17, 38343131: 38343131
15 GPR179 NM_001004334.3(GPR179): c.647dupA (p.Ala217Glyfs) duplication Pathogenic rs886043388 GRCh37 Chromosome 17, 36499026: 36499026
16 GPR179 NM_001004334.3(GPR179): c.647dupA (p.Ala217Glyfs) duplication Pathogenic rs886043388 GRCh38 Chromosome 17, 38343143: 38343143
17 GPR179 NM_001004334.3(GPR179): c.6824T> C (p.Leu2275Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs148601715 GRCh38 Chromosome 17, 38326745: 38326745
18 GPR179 NM_001004334.3(GPR179): c.6824T> C (p.Leu2275Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs148601715 GRCh37 Chromosome 17, 36482628: 36482628
19 GPR179 NM_001004334.3(GPR179): c.5975G> A (p.Gly1992Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200936863 GRCh38 Chromosome 17, 38327594: 38327594
20 GPR179 NM_001004334.3(GPR179): c.5975G> A (p.Gly1992Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200936863 GRCh37 Chromosome 17, 36483477: 36483477
21 GPR179 NM_001004334.3(GPR179): c.2022C> T (p.Asp674=) single nucleotide variant Conflicting interpretations of pathogenicity rs79623844 GRCh38 Chromosome 17, 38333266: 38333266
22 GPR179 NM_001004334.3(GPR179): c.2022C> T (p.Asp674=) single nucleotide variant Conflicting interpretations of pathogenicity rs79623844 GRCh37 Chromosome 17, 36489149: 36489149
23 GPR179 NM_001004334.3(GPR179): c.6336G> A (p.Ala2112=) single nucleotide variant Likely benign rs186214845 GRCh37 Chromosome 17, 36483116: 36483116
24 GPR179 NM_001004334.3(GPR179): c.6336G> A (p.Ala2112=) single nucleotide variant Likely benign rs186214845 GRCh38 Chromosome 17, 38327233: 38327233
25 GPR179 NM_001004334.3(GPR179): c.5606A> C (p.Gln1869Pro) single nucleotide variant Likely benign rs201516786 GRCh38 Chromosome 17, 38327963: 38327963
26 GPR179 NM_001004334.3(GPR179): c.5606A> C (p.Gln1869Pro) single nucleotide variant Likely benign rs201516786 GRCh37 Chromosome 17, 36483846: 36483846
27 GPR179 NM_001004334.3(GPR179): c.5385C> T (p.Gly1795=) single nucleotide variant Likely benign rs72832276 GRCh38 Chromosome 17, 38328184: 38328184
28 GPR179 NM_001004334.3(GPR179): c.5385C> T (p.Gly1795=) single nucleotide variant Likely benign rs72832276 GRCh37 Chromosome 17, 36484067: 36484067
29 GPR179 NM_001004334.3(GPR179): c.3441C> T (p.Ser1147=) single nucleotide variant Likely benign rs377711366 GRCh37 Chromosome 17, 36486011: 36486011
30 GPR179 NM_001004334.3(GPR179): c.3441C> T (p.Ser1147=) single nucleotide variant Likely benign rs377711366 GRCh38 Chromosome 17, 38330128: 38330128
31 GPR179 NM_001004334.3(GPR179): c.795-4G> A single nucleotide variant Likely benign rs150772690 GRCh37 Chromosome 17, 36495412: 36495412
32 GPR179 NM_001004334.3(GPR179): c.795-4G> A single nucleotide variant Likely benign rs150772690 GRCh38 Chromosome 17, 38339529: 38339529
33 GPR179 NM_001004334.3(GPR179): c.779_780dup (p.Pro262Alafs) duplication Pathogenic GRCh38 Chromosome 17, 38343010: 38343011
34 GPR179 NM_001004334.3(GPR179): c.779_780dup (p.Pro262Alafs) duplication Pathogenic GRCh37 Chromosome 17, 36498893: 36498894
35 GPR179 NM_001004334.2: c.1727delA deletion Likely pathogenic GRCh38 Chromosome 17, 38334761: 38334761
36 GPR179 NM_001004334.2: c.1727delA deletion Likely pathogenic GRCh37 Chromosome 17, 36490644: 36490644

Expression for Night Blindness, Congenital Stationary, Type 1e

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

Pathways for Night Blindness, Congenital Stationary, Type 1e

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

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.8 CACNA1F GPR179 NYX

Sources for Night Blindness, Congenital Stationary, Type 1e

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