CSNB1D
MCID: NGH028
MIFTS: 23

Night Blindness, Congenital Stationary, Type 1d (CSNB1D)

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

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

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

Name: Night Blindness, Congenital Stationary, Type 1d 58 74
Csnb1d 58 12 76
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 58 13
Congenital Stationary Night Blindness, Type 1d 30 6
Congenital Stationary Night Blindness 1d Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1d 41
Night Blindness, Congenital Stationary, 1d 76
Congenital Stationary Night Blindness 1d 12
Csnb, Complete, Autosomal Recessive 58
Complete Autosomal Recessive Csnb 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
night blindness, congenital stationary, type 1d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110868
OMIM 58 613830
MeSH 45 D009755
MedGen 43 C3151193
UMLS 74 C3151193

Summaries for Night Blindness, Congenital Stationary, Type 1d

OMIM : 58 CSNB1D is an autosomal recessive form of congenital stationary night blindness that is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients with Riggs-type CSNB have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500). (613830)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1d, also known as csnb1d, is related to night blindness, congenital stationary, type 1b and night blindness, congenital stationary, type 1c. An important gene associated with Night Blindness, Congenital Stationary, Type 1d is SLC24A1 (Solute Carrier Family 24 Member 1). Affiliated tissues include eye, and related phenotypes are blindness and congenital stationary night blindness

Disease Ontology : 12 A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the SLC24A1 gene on chromosome 15q22.

UniProtKB/Swiss-Prot : 76 Night blindness, congenital stationary, 1D: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus.

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

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

33
# Description HPO Frequency HPO Source Accession
1 blindness 33 HP:0000618
2 congenital stationary night blindness 33 HP:0007642

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
night blindness beginning in early childhood
funduscopic examination normal
absent a- and b-waves under scotopic conditions
normal or mildly reduced cone responses under photopic conditions

Clinical features from OMIM:

613830

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

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

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

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

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1d 30 SLC24A1

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

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

42
Eye

Publications for Night Blindness, Congenital Stationary, Type 1d

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

# Title Authors Year
1
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )
2016
2
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. ( 20850105 )
2010

Variations for Night Blindness, Congenital Stationary, Type 1d

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC24A1 SLC24A1, 2-BP DEL, EXON 2 deletion Pathogenic
2 SLC24A1 NM_004727.2(SLC24A1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs1410075831 GRCh38 Chromosome 15, 65650550: 65650550
3 SLC24A1 NM_004727.2(SLC24A1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic rs1410075831 GRCh37 Chromosome 15, 65942888: 65942888
4 SLC24A1 NM_004727.2(SLC24A1): c.1691_1693delTCT (p.Phe564del) deletion Pathogenic rs1555403793 GRCh38 Chromosome 15, 65625771: 65625773
5 SLC24A1 NM_004727.2(SLC24A1): c.1691_1693delTCT (p.Phe564del) deletion Pathogenic rs1555403793 GRCh37 Chromosome 15, 65918109: 65918111
6 SLC24A1 NM_004727.2(SLC24A1): c.3291_3294delATCT (p.Val1099Glufs) deletion Pathogenic rs766780281 GRCh37 Chromosome 15, 65946408: 65946411
7 SLC24A1 NM_004727.2(SLC24A1): c.3291_3294delATCT (p.Val1099Glufs) deletion Pathogenic rs766780281 GRCh38 Chromosome 15, 65654070: 65654073
8 SLC24A1 NM_004727.2(SLC24A1): c.2968A> C (p.Ser990Arg) single nucleotide variant Pathogenic rs1555407654 GRCh38 Chromosome 15, 65652726: 65652726
9 SLC24A1 NM_004727.2(SLC24A1): c.2968A> C (p.Ser990Arg) single nucleotide variant Pathogenic rs1555407654 GRCh37 Chromosome 15, 65945064: 65945064

Expression for Night Blindness, Congenital Stationary, Type 1d

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

Pathways for Night Blindness, Congenital Stationary, Type 1d

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

Sources for Night Blindness, Congenital Stationary, Type 1d

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
Content
Loading form....