CSNB1D
MCID: NGH028
MIFTS: 26

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

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal 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 70
Night Blindness, Congenital Stationary , 1d, Autosomal Recessive 57 29 13
Csnb1d 57 12 72
Congenital Stationary Night Blindness, Type 1d 29 6
Congenital Stationary Night Blindness 1d Autosomal Recessive 12
Blindness, Night, Stationary, Congenital, Type 1d 39
Night Blindness, Congenital Stationary, 1d 72
Congenital Stationary Night Blindness 1d 12
Csnb, Complete, Autosomal Recessive 57
Complete Autosomal Recessive Csnb 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
night blindness, congenital stationary, type 1d:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110868
OMIM® 57 613830
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
MedGen 41 C3151193
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1d, also known as night blindness, congenital stationary , 1d, autosomal recessive, 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 : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 congenital stationary night blindness 31 HP:0007642

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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
2 Night Blindness, Congenital Stationary (complete), 1d, Autosomal Recessive 29

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

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

40
Eye

Publications for Night Blindness, Congenital Stationary, Type 1d

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

# Title Authors PMID Year
1
Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. 57 6
26822852 2016
2
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 57 6
20850105 2010

Variations for Night Blindness, Congenital Stationary, Type 1d

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

6 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC24A1 NM_004727.3(SLC24A1):c.3291_3294del (p.Val1099fs) Deletion Pathogenic 489399 rs766780281 GRCh37: 15:65946407-65946410
GRCh38: 15:65654069-65654072
2 SLC24A1 NM_004727.3(SLC24A1):c.2401G>T (p.Glu801Ter) SNV Pathogenic 489397 rs1410075831 GRCh37: 15:65942888-65942888
GRCh38: 15:65650550-65650550
3 SLC24A1 NM_004727.3(SLC24A1):c.1691_1693del (p.Phe564del) Deletion Pathogenic 489398 rs1555403793 GRCh37: 15:65918107-65918109
GRCh38: 15:65625769-65625771
4 SLC24A1 SLC24A1, 2-BP DEL, EXON 2 Deletion Pathogenic 30373 GRCh37:
GRCh38:
5 SLC24A1 NM_004727.3(SLC24A1):c.2679del (p.Asn893fs) Deletion Pathogenic 1032264 GRCh37: 15:65943166-65943166
GRCh38: 15:65650828-65650828
6 SLC24A1 NM_004727.3(SLC24A1):c.754_755del (p.Met252fs) Deletion Pathogenic 560508 rs777989874 GRCh37: 15:65917172-65917173
GRCh38: 15:65624834-65624835
7 SLC24A1 NM_004727.3(SLC24A1):c.2968A>C (p.Ser990Arg) SNV Pathogenic 489400 rs1555407654 GRCh37: 15:65945064-65945064
GRCh38: 15:65652726-65652726
8 SLC24A1 NM_004727.3(SLC24A1):c.980C>T (p.Thr327Ile) SNV Uncertain significance 316793 rs746176031 GRCh37: 15:65917398-65917398
GRCh38: 15:65625060-65625060
9 SLC24A1 NM_004727.3(SLC24A1):c.76C>T (p.Leu26Phe) SNV Uncertain significance 316787 rs755508009 GRCh37: 15:65916494-65916494
GRCh38: 15:65624156-65624156
10 SLC24A1 NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) SNV Uncertain significance 195229 rs202245263 GRCh37: 15:65917221-65917221
GRCh38: 15:65624883-65624883
11 SLC24A1 NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val) SNV Uncertain significance 316801 rs201943537 GRCh37: 15:65937992-65937992
GRCh38: 15:65645654-65645654
12 SLC24A1 NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) SNV Uncertain significance 198522 rs371059164 GRCh37: 15:65943064-65943064
GRCh38: 15:65650726-65650726
13 SLC24A1 NM_004727.3(SLC24A1):c.*203G>A SNV Uncertain significance 887768 GRCh37: 15:65946620-65946620
GRCh38: 15:65654282-65654282
14 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*2040T>C SNV Uncertain significance 887838 GRCh37: 15:65948457-65948457
GRCh38: 15:65656119-65656119
15 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*2041C>T SNV Uncertain significance 887839 GRCh37: 15:65948458-65948458
GRCh38: 15:65656120-65656120
16 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*2146T>G SNV Uncertain significance 887840 GRCh37: 15:65948563-65948563
GRCh38: 15:65656225-65656225
17 SLC24A1 NM_004727.3(SLC24A1):c.1653C>T (p.Leu551=) SNV Uncertain significance 713480 rs181942192 GRCh37: 15:65918071-65918071
GRCh38: 15:65625733-65625733
18 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*2027G>A SNV Uncertain significance 316827 rs886051359 GRCh37: 15:65948444-65948444
GRCh38: 15:65656106-65656106
19 SLC24A1 NM_004727.3(SLC24A1):c.*40C>A SNV Uncertain significance 316810 rs371028086 GRCh37: 15:65946457-65946457
GRCh38: 15:65654119-65654119
20 SLC24A1 NM_004727.3(SLC24A1):c.2349T>C (p.Gly783=) SNV Uncertain significance 316802 rs886051351 GRCh37: 15:65942836-65942836
GRCh38: 15:65650498-65650498
21 SLC24A1 NM_004727.3(SLC24A1):c.2053+6C>T SNV Uncertain significance 316799 rs886051350 GRCh37: 15:65932047-65932047
GRCh38: 15:65639709-65639709
22 SLC24A1 NM_004727.3(SLC24A1):c.2764T>C (p.Trp922Arg) SNV Uncertain significance 286514 rs146253044 GRCh37: 15:65943251-65943251
GRCh38: 15:65650913-65650913
23 SLC24A1 NM_004727.3(SLC24A1):c.1910C>T (p.Ala637Val) SNV Uncertain significance 316797 rs375420645 GRCh37: 15:65930485-65930485
GRCh38: 15:65638147-65638147
24 SLC24A1 NM_004727.3(SLC24A1):c.2226C>T (p.Gly742=) SNV Uncertain significance 884564 GRCh37: 15:65938035-65938035
GRCh38: 15:65645697-65645697
25 SLC24A1 NM_004727.3(SLC24A1):c.47G>A (p.Arg16Gln) SNV Uncertain significance 887652 GRCh37: 15:65916465-65916465
GRCh38: 15:65624127-65624127
26 SLC24A1 NM_004727.3(SLC24A1):c.1271C>A (p.Pro424His) SNV Uncertain significance 885436 GRCh37: 15:65917689-65917689
GRCh38: 15:65625351-65625351
27 SLC24A1 NM_004727.3(SLC24A1):c.776T>C (p.Phe259Ser) SNV Uncertain significance 316792 rs370617242 GRCh37: 15:65917194-65917194
GRCh38: 15:65624856-65624856
28 SLC24A1 NM_004727.3(SLC24A1):c.235C>G (p.Pro79Ala) SNV Uncertain significance 884501 GRCh37: 15:65916653-65916653
GRCh38: 15:65624315-65624315
29 SLC24A1 NM_004727.3(SLC24A1):c.3051-9A>G SNV Uncertain significance 886525 GRCh37: 15:65946159-65946159
GRCh38: 15:65653821-65653821
30 SLC24A1 NM_004727.3(SLC24A1):c.425_428del (p.Glu142fs) Deletion Uncertain significance 316790 rs886051349 GRCh37: 15:65916843-65916846
GRCh38: 15:65624505-65624508
31 SLC24A1 NM_004727.3(SLC24A1):c.*721G>A SNV Uncertain significance 316814 rs549899114 GRCh37: 15:65947138-65947138
GRCh38: 15:65654800-65654800
32 SLC24A1 NM_004727.3(SLC24A1):c.1818C>T (p.Ile606=) SNV Uncertain significance 316796 rs368241269 GRCh37: 15:65918236-65918236
GRCh38: 15:65625898-65625898
33 SLC24A1 NM_004727.3(SLC24A1):c.*295G>A SNV Uncertain significance 316811 rs886051353 GRCh37: 15:65946712-65946712
GRCh38: 15:65654374-65654374
34 SLC24A1 NM_004727.3(SLC24A1):c.2533G>A (p.Glu845Lys) SNV Uncertain significance 316803 rs532808985 GRCh37: 15:65943020-65943020
GRCh38: 15:65650682-65650682
35 SLC24A1 NM_004727.3(SLC24A1):c.2661A>G (p.Glu887=) SNV Uncertain significance 316804 rs886051352 GRCh37: 15:65943148-65943148
GRCh38: 15:65650810-65650810
36 SLC24A1 NM_004727.3(SLC24A1):c.1976C>A (p.Ser659Ter) SNV Uncertain significance 632242 rs367858805 GRCh37: 15:65931964-65931964
GRCh38: 15:65639626-65639626
37 SLC24A1 NM_004727.3(SLC24A1):c.3021G>A (p.Val1007=) SNV Uncertain significance 316808 rs201199381 GRCh37: 15:65945117-65945117
GRCh38: 15:65652779-65652779
38 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*1474A>G SNV Uncertain significance 316822 rs886051357 GRCh37: 15:65947891-65947891
GRCh38: 15:65655553-65655553
39 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*2083C>T SNV Uncertain significance 316828 rs886051360 GRCh37: 15:65948500-65948500
GRCh38: 15:65656162-65656162
40 SLC24A1 NM_004727.3(SLC24A1):c.134G>A (p.Arg45Gln) SNV Uncertain significance 316788 rs886051348 GRCh37: 15:65916552-65916552
GRCh38: 15:65624214-65624214
41 SLC24A1 NM_004727.3(SLC24A1):c.639G>T (p.Ala213=) SNV Uncertain significance 316791 rs781442429 GRCh37: 15:65917057-65917057
GRCh38: 15:65624719-65624719
42 SLC24A1 NM_004727.3(SLC24A1):c.2782G>A (p.Val928Ile) SNV Uncertain significance 316806 rs536096021 GRCh37: 15:65943269-65943269
GRCh38: 15:65650931-65650931
43 SLC24A1 NM_004727.3(SLC24A1):c.3206T>A (p.Ile1069Asn) SNV Uncertain significance 316809 rs771727416 GRCh37: 15:65946323-65946323
GRCh38: 15:65653985-65653985
44 SLC24A1 NM_004727.3(SLC24A1):c.*1099A>T SNV Uncertain significance 316818 rs886051354 GRCh37: 15:65947516-65947516
GRCh38: 15:65655178-65655178
45 SLC24A1 NM_004727.3(SLC24A1):c.-73A>G SNV Uncertain significance 316784 rs886051346 GRCh37: 15:65916346-65916346
GRCh38: 15:65624008-65624008
46 SLC24A1 NM_004727.3(SLC24A1):c.*349C>T SNV Uncertain significance 316812 rs184758393 GRCh37: 15:65946766-65946766
GRCh38: 15:65654428-65654428
47 SLC24A1 NM_004727.3(SLC24A1):c.1945-14C>G SNV Uncertain significance 316798 rs761704353 GRCh37: 15:65931919-65931919
GRCh38: 15:65639581-65639581
48 SLC24A1 NM_004727.3(SLC24A1):c.2751C>T (p.Ile917=) SNV Uncertain significance 316805 rs368057501 GRCh37: 15:65943238-65943238
GRCh38: 15:65650900-65650900
49 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*1608C>T SNV Uncertain significance 316824 rs886051358 GRCh37: 15:65948025-65948025
GRCh38: 15:65655687-65655687
50 DENND4A , SLC24A1 NM_004727.3(SLC24A1):c.*1363G>A SNV Uncertain significance 316821 rs886051356 GRCh37: 15:65947780-65947780
GRCh38: 15:65655442-65655442

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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