CSNB1A
MCID: NGH026
MIFTS: 43

Night Blindness, Congenital Stationary, Type 1a (CSNB1A)

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

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

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

Name: Night Blindness, Congenital Stationary, Type 1a 58 74
Hemeralopia-Myopia 58 12 76
Nyctalopia 76 30 6
Csnb1a 58 12 76
Night Blindness, Congenital Stationary , 1a, X-Linked 58 13
Congenital Stationary Night Blindness with Myopia 12 76
Congenital Stationary Night Blindness, Type 1a 30 6
Congenital Stationary Night Blindness 1a 12 15
Myopia-Night Blindness 58 12
Night Blindness, Congenital Stationary, with Myopia 58
Congenital Stationary Night Blindness 1a X-Linked 12
Blindness, Night, Stationary, Congenital, Type 1a 41
Night Blindness, Congenital Stationary, Type 2a 74
X-Linked Congenital Stationary Night Blindness 76
Night Blindness, Congenital Stationary, 1a 76
Myopia-Night Blindness; Nbm1 58
Csnb, Complete, X-Linked 58
Complete Csnb X-Linked 12
Complete X-Linked Csnb 76
Night Blindness 74
X-Linked Csnb 74
Xlcsnb 76
Nbm1 58
Nbmi 12

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Night Blindness, Congenital Stationary, Type 1a

OMIM : 58 Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by Riazuddin et al., 2010). Van Genderen et al. (2009) noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, 300071). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact. Bijveld et al. (2013) noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents. (310500)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1a, also known as hemeralopia-myopia, is related to night blindness and congenital stationary night blindness, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness, Congenital Stationary, Type 1a is NYX (Nyctalopin). Affiliated tissues include eye and pancreas, and related phenotypes are myopia and congenital stationary night blindness

Disease Ontology : 12 A congenital stationary night blindness that has material basis in mutation in the NYX gene on chromosome Xp11.4.

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, 1A: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.

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

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 night blindness 31.0 NYX RHO
2 congenital stationary night blindness 30.7 NYX RHO
3 night blindness, congenital stationary, type 2a 12.0
4 x-linked congenital stationary night blindness 11.6
5 bietti crystalline corneoretinal dystrophy 11.2
6 usher syndrome, type iiia 11.2
7 usher syndrome, type iiib 11.2
8 enhanced s-cone syndrome 11.1
9 night blindness, congenital stationary, type 1d 11.1
10 night blindness, congenital stationary, type 1e 11.1
11 night blindness, congenital stationary, type 1h 11.1
12 cone-rod dystrophy 2 11.0
13 wagner vitreoretinopathy 11.0
14 reticular dystrophy of retinal pigment epithelium 11.0
15 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 11.0
16 late-onset retinal degeneration 11.0
17 birdshot chorioretinopathy 11.0
18 posterior column ataxia with retinitis pigmentosa 11.0
19 retinal cone dystrophy 3b 11.0
20 ayazi syndrome 11.0
21 yemenite deaf-blind hypopigmentation syndrome 10.8
22 myopia 10.6
23 retinitis pigmentosa 10.3
24 leber congenital amaurosis 4 10.3
25 retinitis 10.3
26 pathologic nystagmus 10.3
27 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.2
28 keratomalacia 10.2
29 oguchi disease 10.0 NYX RHO
30 cystic fibrosis 10.0
31 pancreas adenocarcinoma 10.0
32 cone dystrophy 10.0
33 xerophthalmia 10.0
34 optic disk drusen 10.0
35 adenocarcinoma 10.0
36 mastocytosis 10.0
37 pancreatitis 10.0
38 retinal degeneration 10.0
39 retinal disease 10.0 NYX RHO

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



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

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

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

33
# Description HPO Frequency HPO Source Accession
1 myopia 33 HP:0000545
2 congenital stationary night blindness 33 HP:0007642
3 hemeralopia 33 HP:0012047
4 high myopia 33 HP:0011003

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hemeralopia
high myopia
night blindness, stationary
impaired visual acuity

Clinical features from OMIM:

310500

UMLS symptoms related to Night Blindness, Congenital Stationary, Type 1a:


photophobia, amaurosis fugax, metamorphopsia, other specified visual disturbances, visual disturbance, subjective visual disturbance, unspecified, visual manifestations

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.55 CXCL11
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.55 ANK1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.55 ANK1 BMI1 CXCL11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.55 CXCL11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.55 CXCL11
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.55 CXCL11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.55 ANK1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.55 BMI1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.55 BMI1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.55 BMI1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.55 BMI1 CXCL11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.55 ANK1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.55 ANK1 BMI1

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534 Not Applicable

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

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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

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

# Genetic test Affiliating Genes
1 Nyctalopia 30
2 Congenital Stationary Night Blindness, Type 1a 30 NYX

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

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

42
Eye, Pancreas

Publications for Night Blindness, Congenital Stationary, Type 1a

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

# Title Authors Year
1
CSNB1 in Chinese families associated with novel mutations in NYX. ( 16670814 )
2006
2
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. ( 11062471 )
2000
3
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. ( 11062472 )
2000
4
X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. ( 3257795 )
1988
5
Congenital stationary night blindness with myopia: a clinico-pathologic study. ( 3488187 )
1986
6
The Eisdell pedigree. Congenital stationary night-blindness with myopia. ( 6364465 )
1983
7
The photopic electroretinogram in congenital stationary night blindness with myopia. ( 6601088 )
1983
8
The autosomal recessive variety of congenital stationary night-blindness with myopia. ( 4537233 )
1972

Variations for Night Blindness, Congenital Stationary, Type 1a

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

76 (show all 16)
# Symbol AA change Variation ID SNP ID
1 NYX p.Cys31Ser VAR_013867 rs62637020
2 NYX p.Ala143Pro VAR_013868 rs62637023
3 NYX p.Pro151Leu VAR_013869 rs62637024
4 NYX p.Pro175Arg VAR_013870 rs62637025
5 NYX p.Leu184Pro VAR_013871 rs62637026
6 NYX p.Ala187Lys VAR_013872 rs62637027
7 NYX p.Leu213Gln VAR_013873 rs62637028
8 NYX p.Asn216Ser VAR_013874
9 NYX p.Leu232Pro VAR_013875 rs62637030
10 NYX p.Asn264Lys VAR_013876 rs62637032
11 NYX p.Leu285Pro VAR_013877 rs62637033
12 NYX p.Phe298Ser VAR_013878 rs62637034
13 NYX p.Leu307Pro VAR_013879
14 NYX p.Asn312Ser VAR_013880 rs62637035
15 NYX p.Leu347Pro VAR_013881 rs62637036
16 NYX p.Gly370Val VAR_013882 rs62637038

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

6 (show all 23)
# Gene Variation Type Significance SNP ID Assembly Location
1 NYX NYX, 24-BP DEL deletion Pathogenic
2 NYX NM_022567.2(NYX): c.1049G> A (p.Trp350Ter) single nucleotide variant Pathogenic rs62637037 GRCh37 Chromosome X, 41333755: 41333755
3 NYX NM_022567.2(NYX): c.1049G> A (p.Trp350Ter) single nucleotide variant Pathogenic rs62637037 GRCh38 Chromosome X, 41474502: 41474502
4 NYX NM_022567.2(NYX): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs62637021 GRCh37 Chromosome X, 41332811: 41332811
5 NYX NM_022567.2(NYX): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs62637021 GRCh38 Chromosome X, 41473558: 41473558
6 NYX NM_022567.2(NYX): c.559_560delGCinsAA (p.Ala187Lys) indel Pathogenic rs62637027 GRCh37 Chromosome X, 41333265: 41333266
7 NYX NM_022567.2(NYX): c.559_560delGCinsAA (p.Ala187Lys) indel Pathogenic rs62637027 GRCh38 Chromosome X, 41474012: 41474013
8 NYX NM_022567.2(NYX): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs104894910 GRCh37 Chromosome X, 41332987: 41332987
9 NYX NM_022567.2(NYX): c.281G> C (p.Arg94Pro) single nucleotide variant Pathogenic rs104894910 GRCh38 Chromosome X, 41473734: 41473734
10 NYX NM_022567.2(NYX): c.302T> C (p.Ile101Thr) single nucleotide variant Pathogenic rs104894911 GRCh37 Chromosome X, 41333008: 41333008
11 NYX NM_022567.2(NYX): c.302T> C (p.Ile101Thr) single nucleotide variant Pathogenic rs104894911 GRCh38 Chromosome X, 41473755: 41473755
12 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh37 Chromosome 3, 129252554: 129252554
13 RHO NM_000539.3(RHO): c.1040C> T (p.Pro347Leu) single nucleotide variant Pathogenic rs29001566 GRCh38 Chromosome 3, 129533711: 129533711
14 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh38 Chromosome 2, 55870851: 55870851
15 EFEMP1 NM_001039348.2(EFEMP1): c.1189T> C (p.Tyr397His) single nucleotide variant Likely pathogenic rs1553348960 GRCh37 Chromosome 2, 56097986: 56097986
16 CHM NM_000390.3(CHM): c.75_77del (p.Ala26del) deletion Likely pathogenic rs1555968874 GRCh38 Chromosome X, 86027530: 86027532
17 CHM NM_000390.3(CHM): c.75_77del (p.Ala26del) deletion Likely pathogenic rs1555968874 GRCh37 Chromosome X, 85282534: 85282536
18 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 175689207: 175689207
19 CHN1 NM_001822.5(CHN1): c.667G> A (p.Ala223Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 174824479: 174824479
20 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 241686664: 241686664
21 KIF1A NM_001244008.1(KIF1A): c.3052C> T (p.His1018Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 240747247: 240747247
22 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 6303521: 6303521
23 WFS1 NM_006005.3(WFS1): c.1999C> T (p.Gln667Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 6301794: 6301794

Expression for Night Blindness, Congenital Stationary, Type 1a

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

Pathways for Night Blindness, Congenital Stationary, Type 1a

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

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.8 NYX RHO WFS1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.62 ANK1 WFS1

Sources for Night Blindness, Congenital Stationary, Type 1a

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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