CSNB2A
MCID: NGH025
MIFTS: 31

Night Blindness, Congenital Stationary, Type 2a (CSNB2A)

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

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 2a

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 2a:

Name: Night Blindness, Congenital Stationary, Type 2a 57 73
Night Blindness, Congenital Stationary , 2a, X-Linked 57 13
Congenital Stationary Night Blindness, Type 2a 29 6
Congenital Stationary Night Blindness 2a 12 15
Csnb2a 57 75
Csnb2 57 55
Night Blindness, Congenital Stationary, Type 2; Csnb2 57
Congenital Stationary Night Blindness 2a X-Linked 12
Blindness, Night, Stationary, Congenital, Type 2a 40
Night Blindness, Congenital Stationary, Type 2 57
Congenital Stationary Night Blindness Type 2 75
Night Blindness, Congenital Stationary, 2a 75
Csnb, Incomplete, X-Linked 57
Incomplete X-Linked Csnb 75

Characteristics:

OMIM:

57
Inheritance:
heterogeneous
x-linked form


HPO:

32
night blindness, congenital stationary, type 2a:
Inheritance heterogeneous x-linked inheritance


Classifications:



External Ids:

OMIM 57 300071
Disease Ontology 12 DOID:0110871
MedGen 42 C1848172
MeSH 44 D009755
UMLS 73 C1848172

Summaries for Night Blindness, Congenital Stationary, Type 2a

UniProtKB/Swiss-Prot : 75 Night blindness, congenital stationary, 2A: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

MalaCards based summary : Night Blindness, Congenital Stationary, Type 2a, also known as night blindness, congenital stationary , 2a, x-linked, is related to x-linked congenital stationary night blindness and congenital stationary night blindness. An important gene associated with Night Blindness, Congenital Stationary, Type 2a is CACNA1F (Calcium Voltage-Gated Channel Subunit Alpha1 F). Affiliated tissues include eye, and related phenotypes are visual impairment and reduced visual acuity

Disease Ontology : 12 A congenital stationary night blindness that has material basis in mutation in the CACNA1F gene on chromosome Xp11.23.

Description from OMIM: 300071

Related Diseases for Night Blindness, Congenital Stationary, Type 2a

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 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 32.2 CACNA1F NYX
2 congenital stationary night blindness 29.9 CACNA1F NYX
3 night blindness 29.9 CACNA1F NYX
4 achromatopsia 29.8 CACNA1F NYX
5 night blindness, congenital stationary, type 1a 11.6
6 cone dystrophy 10.1
7 night blindness, congenital stationary, type 1e 9.9 CACNA1F NYX
8 oguchi disease 9.9 CACNA1F NYX
9 aland island eye disease 9.8 CACNA1F NYX
10 achromatopsia 3 9.8 CACNA1F NYX
11 retinal disease 9.8 CACNA1F NYX
12 myopia 9.8 CACNA1F NYX
13 retinitis pigmentosa 9.7 CACNA1F NYX

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 2a:



Diseases related to Night Blindness, Congenital Stationary, Type 2a

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 2a

Symptoms via clinical synopsis from OMIM:

57
Eyes:
congenital stationary night blindness
decreased visual acuity
loss of night vision


Clinical features from OMIM:

300071

Human phenotypes related to Night Blindness, Congenital Stationary, Type 2a:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 reduced visual acuity 32 HP:0007663
3 congenital stationary night blindness 32 HP:0007642

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 2a

Search Clinical Trials , NIH Clinical Center for Night Blindness, Congenital Stationary, Type 2a

Genetic Tests for Night Blindness, Congenital Stationary, Type 2a

Genetic tests related to Night Blindness, Congenital Stationary, Type 2a:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 2a 29 CACNA1F

Anatomical Context for Night Blindness, Congenital Stationary, Type 2a

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 2a:

41
Eye

Publications for Night Blindness, Congenital Stationary, Type 2a

Articles related to Night Blindness, Congenital Stationary, Type 2a:

# Title Authors Year
1
Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. ( 24796500 )
2014
2
Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. ( 24466230 )
2014
3
Dysregulation of Cav 1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. ( 24064553 )
2013
4
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. ( 24051672 )
2013
5
Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W. ( 17949918 )
2007
6
Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. ( 16476079 )
2006
7
Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels. ( 15634789 )
2005

Variations for Night Blindness, Congenital Stationary, Type 2a

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 2a:

75 (show all 20)
# Symbol AA change Variation ID SNP ID
1 CACNA1F p.Gly369Asp VAR_001504 rs122456133
2 CACNA1F p.Arg519Gln VAR_001505 rs34162630
3 CACNA1F p.Arg1060Trp VAR_001506
4 CACNA1F p.Leu1375His VAR_001507
5 CACNA1F p.Cys74Arg VAR_030808
6 CACNA1F p.Gly150Arg VAR_030809
7 CACNA1F p.Ser229Pro VAR_030810
8 CACNA1F p.Gly261Arg VAR_030811
9 CACNA1F p.Val635Ile VAR_030812 rs141010716
10 CACNA1F p.Gly674Asp VAR_030813
11 CACNA1F p.Phe753Cys VAR_030814
12 CACNA1F p.Ile756Thr VAR_030815 rs122456136
13 CACNA1F p.Leu860Pro VAR_030816
14 CACNA1F p.Ala928Asp VAR_030817
15 CACNA1F p.Gly1018Arg VAR_030818 rs124943716
16 CACNA1F p.Leu1079Pro VAR_030819
17 CACNA1F p.Cys1499Arg VAR_030820
18 CACNA1F p.Pro1500Arg VAR_030821
19 CACNA1F p.Leu1508Pro VAR_030822
20 CACNA1F p.Gly603Arg VAR_071433 rs201654095

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 2a:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CACNA1F NM_005183.3(CACNA1F): c.1106G> A (p.Gly369Asp) single nucleotide variant Pathogenic rs122456133 GRCh37 Chromosome X, 49084510: 49084510
2 CACNA1F NM_005183.3(CACNA1F): c.1106G> A (p.Gly369Asp) single nucleotide variant Pathogenic rs122456133 GRCh38 Chromosome X, 49228048: 49228048
3 CACNA1F NM_005183.3(CACNA1F): c.2905C> T (p.Arg969Ter) single nucleotide variant Pathogenic rs122456134 GRCh37 Chromosome X, 49074970: 49074970
4 CACNA1F NM_005183.3(CACNA1F): c.2905C> T (p.Arg969Ter) single nucleotide variant Pathogenic rs122456134 GRCh38 Chromosome X, 49218511: 49218511
5 CACNA1F CACNA1F, 1-BP INS, 991C insertion Pathogenic
6 CACNA1F NM_005183.3(CACNA1F): c.2683C> T (p.Arg895Ter) single nucleotide variant Pathogenic rs122456135 GRCh37 Chromosome X, 49075803: 49075803
7 CACNA1F NM_005183.3(CACNA1F): c.2683C> T (p.Arg895Ter) single nucleotide variant Pathogenic rs122456135 GRCh38 Chromosome X, 49219344: 49219344
8 CACNA1F CACNA1F, 1-BP DEL, 4548C deletion Pathogenic
9 CACNA1F NM_005183.3(CACNA1F): c.3166dupC (p.Leu1056Profs) duplication Pathogenic rs80359870 GRCh37 Chromosome X, 49072945: 49072945
10 CACNA1F NM_005183.3(CACNA1F): c.3166dupC (p.Leu1056Profs) duplication Pathogenic rs80359870 GRCh38 Chromosome X, 49216485: 49216485
11 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh37 Chromosome X, 49088171: 49088171
12 CACNA1F NM_005183.3(CACNA1F): c.244C> T (p.Arg82Ter) single nucleotide variant Pathogenic rs797044676 GRCh38 Chromosome X, 49231709: 49231709
13 CACNA1F NM_005183.3(CACNA1F): c.2576+1G> A single nucleotide variant Pathogenic rs886044841 GRCh37 Chromosome X, 49076092: 49076092
14 CACNA1F NM_005183.3(CACNA1F): c.2576+1G> A single nucleotide variant Pathogenic rs886044841 GRCh38 Chromosome X, 49219633: 49219633
15 CACNA1F NM_005183.3(CACNA1F): c.1966A> T (p.Ile656Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 49079540: 49079540
16 CACNA1F NM_005183.3(CACNA1F): c.1966A> T (p.Ile656Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 49223081: 49223081

Expression for Night Blindness, Congenital Stationary, Type 2a

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 2a.

Pathways for Night Blindness, Congenital Stationary, Type 2a

GO Terms for Night Blindness, Congenital Stationary, Type 2a

Biological processes related to Night Blindness, Congenital Stationary, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 8.96 CACNA1F NYX
2 visual perception GO:0007601 8.62 CACNA1F NYX

Sources for Night Blindness, Congenital Stationary, Type 2a

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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