CSNB1D
MCID: NGH028
MIFTS: 22

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 57 73
Csnb1d 57 12 75
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 57 13
Congenital Stationary Night Blindness, Type 1d 29 6
Congenital Stationary Night Blindness 1d Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1d 40
Night Blindness, Congenital Stationary, 1d 75
Congenital Stationary Night Blindness 1d 12
Csnb, Complete, Autosomal Recessive 57
Complete Autosomal Recessive Csnb 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
night blindness, congenital stationary, type 1d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613830
Disease Ontology 12 DOID:0110868
MedGen 42 C3151193
MeSH 44 D009755
UMLS 73 C3151193

Summaries for Night Blindness, Congenital Stationary, Type 1d

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 blindness 32 HP:0000618
2 congenital stationary night blindness 32 HP:0007642

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 29 SLC24A1

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

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

41
Eye

Publications for Night Blindness, Congenital Stationary, Type 1d

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 GRCh38 Chromosome 15, 65650550: 65650550
3 SLC24A1 NM_004727.2(SLC24A1): c.2401G> T (p.Glu801Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 65942888: 65942888
4 SLC24A1 NM_004727.2(SLC24A1): c.1691_1693delTCT (p.Phe564del) deletion Pathogenic GRCh38 Chromosome 15, 65625771: 65625773
5 SLC24A1 NM_004727.2(SLC24A1): c.1691_1693delTCT (p.Phe564del) deletion Pathogenic GRCh37 Chromosome 15, 65918109: 65918111
6 SLC24A1 NM_004727.2(SLC24A1): c.3291_3294delATCT (p.Val1099Glufs) deletion Pathogenic GRCh37 Chromosome 15, 65946408: 65946411
7 SLC24A1 NM_004727.2(SLC24A1): c.3291_3294delATCT (p.Val1099Glufs) deletion Pathogenic GRCh38 Chromosome 15, 65654070: 65654073
8 SLC24A1 NM_004727.2(SLC24A1): c.2968A> C (p.Ser990Arg) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 65652726: 65652726
9 SLC24A1 NM_004727.2(SLC24A1): c.2968A> C (p.Ser990Arg) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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44 MeSH
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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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