CSNBAD1
MCID: NGH021
MIFTS: 36

Night Blindness, Congenital Stationary, Autosomal Dominant 1 (CSNBAD1)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

Name: Night Blindness, Congenital Stationary, Autosomal Dominant 1 57 73 71
Congenital Stationary Night Blindness Autosomal Dominant 1 11 28 5 14
Csnbad1 57 11 73
Rhodopsin-Related Congenital Stationary Night Blindness 11 73
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1 38
Night Blindness, Congenital Stationary, Rhodopsin-Related 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in early childhood
older patients show minimal retinal degeneration


Classifications:



External Ids:

Disease Ontology 11 DOID:0110862
OMIM® 57 610445
OMIM Phenotypic Series 57 PS310500
MeSH 43 D009755
MedGen 40 C1864869
SNOMED-CT via HPO 69 12184005 193687000 232061009
UMLS 71 C1864869

Summaries for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Disease Ontology: 11 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in mutations in the RHO gene on chromosome 3q22.1.

MalaCards based summary: Night Blindness, Congenital Stationary, Autosomal Dominant 1, also known as congenital stationary night blindness autosomal dominant 1, is related to abnormal threshold of rods and retinitis pigmentosa 4. An important gene associated with Night Blindness, Congenital Stationary, Autosomal Dominant 1 is RHO (Rhodopsin). Affiliated tissues include retina and bone, and related phenotypes are congenital stationary night blindness and visual field defect

UniProtKB/Swiss-Prot: 73 A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia.

More information from OMIM: 610445 PS310500

Related Diseases for Night Blindness, Congenital Stationary, Autosomal Dominant 1

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, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 abnormal threshold of rods 10.1 GNAT1 CACNA1F
2 retinitis pigmentosa 4 10.1 RHO GNAT1
3 oguchi disease 10.1 RHO CACNA1F
4 night blindness, congenital stationary, type 1a 10.1 GNAT1 CACNA1F
5 color blindness 10.0 RHO CACNA1F
6 leber congenital amaurosis 2 10.0 SPATA7 RHO
7 hereditary retinal dystrophy 10.0 SPATA7 RHO
8 night blindness 10.0 RHO GNAT1 CACNA1F
9 retinoschisis 1, x-linked, juvenile 10.0 RHO CACNA1F
10 leber congenital amaurosis 10 10.0 SPATA7 RHO
11 fundus albipunctatus 9.9 RHO GNAT1 CACNA1F
12 refractive error 9.9 RHO CACNA1F
13 congenital stationary night blindness 9.9 RHO GNAT1 CACNA1F
14 achromatopsia 9.8 SPATA7 RHO CACNA1F
15 myopia 9.8 RHO GNAT1 CACNA1F
16 senior-loken syndrome 1 9.7 SPATA7 RHO
17 cone dystrophy 9.7 SPATA7 RHO GNAT1 CACNA1F
18 retinal degeneration 9.5 SPATA7 SEMA4A RHO GNAT1
19 leber plus disease 9.3 SPATA7 RHO PRPF4 GNAT1 CACNA1F
20 fundus dystrophy 9.0 SPATA7 SEMA4A RHO PRPF4 GNAT1 CACNA1F
21 cone-rod dystrophy 2 9.0 SPATA7 SEMA4A RHO PRPF4 GNAT1 CACNA1F
22 retinitis pigmentosa 8.7 SPATA7 SEMA4A RHO PRPF4 LSM8 GNAT1

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



Diseases related to Night Blindness, Congenital Stationary, Autosomal Dominant 1

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Human phenotypes related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital stationary night blindness 30 Very rare (1%) HP:0007642
2 visual field defect 30 HP:0001123
3 bone spicule pigmentation of the retina 30 HP:0007737
4 decreased light- and dark-adapted electroretinogram amplitude 30 HP:0000654

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
night blindness, congenital (nonprogressive complete)
reduced or absent rod responses seen on electroretinography
cone responses normal in all but oldest patients
rhodopsin density normal

Clinical features from OMIM®:

610445 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.02 LSM8 PNISR PRPF4 RHO SPATA7

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search Clinical Trials, NIH Clinical Center for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic Tests for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Genetic tests related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness Autosomal Dominant 1 28 RHO

Anatomical Context for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Organs/tissues related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

MalaCards : Retina, Bone

Publications for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Articles related to Night Blindness, Congenital Stationary, Autosomal Dominant 1:

(show all 12)
# Title Authors PMID Year
1
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. 57 5
9888392 1999
2
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. 57 5
8358437 1993
3
Rod photoreceptor temporal properties in retinitis pigmentosa. 5
21219898 2011
4
Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations. 5
21094163 2011
5
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F. 5
17488458 2007
6
Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis. 5
12871954 2003
7
Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled. 5
9380676 1997
8
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation. 57
7846071 1995
9
Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa. 5
7981701 1994
10
Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. 5
8088850 1994
11
Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. 5
8107847 1994
12
A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT. 57
14275464 1965

Variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Autosomal Dominant 1:

5 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val) SNV Pathogenic
417867 rs104893793 GRCh37: 3:129249848-129249848
GRCh38: 3:129531005-129531005
2 RHO NM_000539.3(RHO):c.269G>A (p.Gly90Asp) SNV Pathogenic
13045 rs104893790 GRCh37: 3:129247845-129247845
GRCh38: 3:129529002-129529002
3 RHO NM_000539.3(RHO):c.875C>A (p.Ala292Glu) SNV Pathogenic
13044 rs104893789 GRCh37: 3:129251554-129251554
GRCh38: 3:129532711-129532711
4 RHO NM_000539.3(RHO):c.68C>A (p.Pro23His) SNV Pathogenic
13013 rs104893768 GRCh37: 3:129247644-129247644
GRCh38: 3:129528801-129528801
5 RHO NM_000539.3(RHO):c.647T>A (p.Met216Lys) SNV Likely Pathogenic
865880 rs984572250 GRCh37: 3:129251210-129251210
GRCh38: 3:129532367-129532367
6 RHO NM_000539.3(RHO):c.328T>C (p.Cys110Arg) SNV Likely Pathogenic
867081 rs1578278438 GRCh37: 3:129247904-129247904
GRCh38: 3:129529061-129529061
7 RHO NM_000539.3(RHO):c.281C>T (p.Thr94Ile) SNV Likely Pathogenic
13054 rs104893796 GRCh37: 3:129247857-129247857
GRCh38: 3:129529014-129529014
8 RHO NM_000539.3(RHO):c.362G>T (p.Gly121Val) SNV Likely Pathogenic
984781 rs2084774644 GRCh37: 3:129249719-129249719
GRCh38: 3:129530876-129530876
9 RHO NM_000539.3(RHO):c.806C>A (p.Ala269Asp) SNV Uncertain Significance
984767 rs2084789658 GRCh37: 3:129251485-129251485
GRCh38: 3:129532642-129532642
10 RHO NM_000539.3(RHO):c.*551G>A SNV Uncertain Significance
903111 rs933661466 GRCh37: 3:129253112-129253112
GRCh38: 3:129534269-129534269
11 RHO NM_000539.3(RHO):c.*542G>A SNV Uncertain Significance
903110 rs369408405 GRCh37: 3:129253103-129253103
GRCh38: 3:129534260-129534260
12 RHO NM_000539.3(RHO):c.*26C>T SNV Uncertain Significance
903052 rs773347364 GRCh37: 3:129252587-129252587
GRCh38: 3:129533744-129533744
13 RHO NM_000539.3(RHO):c.*406G>C SNV Uncertain Significance
902235 rs2084804479 GRCh37: 3:129252967-129252967
GRCh38: 3:129534124-129534124
14 RHO NM_000539.3(RHO):c.*285G>A SNV Uncertain Significance
900553 rs1487459358 GRCh37: 3:129252846-129252846
GRCh38: 3:129534003-129534003
15 RHO NM_000539.3(RHO):c.732G>A (p.Gln244=) SNV Uncertain Significance
900511 rs148222991 GRCh37: 3:129251411-129251411
GRCh38: 3:129532568-129532568
16 RHO NM_000539.3(RHO):c.847T>C (p.Phe283Leu) SNV Uncertain Significance
902169 rs2084790979 GRCh37: 3:129251526-129251526
GRCh38: 3:129532683-129532683
17 RHO NM_000539.3(RHO):c.440G>A (p.Arg147His) SNV Uncertain Significance
902118 rs746468201 GRCh37: 3:129249797-129249797
GRCh38: 3:129530954-129530954
18 RHO NM_000539.3(RHO):c.*1454G>A SNV Uncertain Significance
900699 rs2084812090 GRCh37: 3:129254015-129254015
GRCh38: 3:129535172-129535172
19 RHO NM_000539.3(RHO):c.*1294A>G SNV Uncertain Significance
900698 rs1047324551 GRCh37: 3:129253855-129253855
GRCh38: 3:129535012-129535012
20 RHO NM_000539.3(RHO):c.*815G>T SNV Uncertain Significance
900623 rs2084807511 GRCh37: 3:129253376-129253376
GRCh38: 3:129534533-129534533
21 RHO NM_000539.3(RHO):c.*679A>G SNV Uncertain Significance
899491 rs1359424642 GRCh37: 3:129253240-129253240
GRCh38: 3:129534397-129534397
22 RHO NM_000539.3(RHO):c.754C>T (p.Arg252Cys) SNV Uncertain Significance
900513 rs752805805 GRCh37: 3:129251433-129251433
GRCh38: 3:129532590-129532590
23 RHO NM_000539.3(RHO):c.205C>T (p.Arg69Cys) SNV Uncertain Significance
900453 rs761101263 GRCh37: 3:129247781-129247781
GRCh38: 3:129528938-129528938
24 RHO NM_000539.3(RHO):c.87C>T (p.Tyr29=) SNV Uncertain Significance
900393 rs149084537 GRCh37: 3:129247663-129247663
GRCh38: 3:129528820-129528820
25 RHO NM_000539.3(RHO):c.-24G>T SNV Uncertain Significance
900391 rs771188148 GRCh37: 3:129247553-129247553
GRCh38: 3:129528710-129528710
26 RHO NM_000539.3(RHO):c.*1179T>C SNV Uncertain Significance
899557 rs569761830 GRCh37: 3:129253740-129253740
GRCh38: 3:129534897-129534897
27 RHO NM_000539.3(RHO):c.*670A>C SNV Uncertain Significance
899490 rs2084806843 GRCh37: 3:129253231-129253231
GRCh38: 3:129534388-129534388
28 RHO NM_000539.3(RHO):c.*573C>T SNV Uncertain Significance
899489 rs2084806235 GRCh37: 3:129253134-129253134
GRCh38: 3:129534291-129534291
29 RHO NM_000539.3(RHO):c.704C>A (p.Ala235Asp) SNV Uncertain Significance
899390 rs1390478420 GRCh37: 3:129251383-129251383
GRCh38: 3:129532540-129532540
30 RHO NM_000539.3(RHO):c.*440C>G SNV Uncertain Significance
343293 rs886057971 GRCh37: 3:129253001-129253001
GRCh38: 3:129534158-129534158
31 RHO NM_000539.3(RHO):c.*276C>T SNV Uncertain Significance
343291 rs759322778 GRCh37: 3:129252837-129252837
GRCh38: 3:129533994-129533994
32 RHO NM_000539.3(RHO):c.*887G>C SNV Uncertain Significance
343301 rs886057975 GRCh37: 3:129253448-129253448
GRCh38: 3:129534605-129534605
33 RHO NM_000539.3(RHO):c.*1255T>C SNV Uncertain Significance
343309 rs774496991 GRCh37: 3:129253816-129253816
GRCh38: 3:129534973-129534973
34 RHO NM_000539.3(RHO):c.48G>A (p.Ala16=) SNV Uncertain Significance
343273 rs766112074 GRCh37: 3:129247624-129247624
GRCh38: 3:129528781-129528781
35 RHO NM_000539.3(RHO):c.614T>G (p.Ile205Ser) SNV Uncertain Significance
343279 rs886057967 GRCh37: 3:129251177-129251177
GRCh38: 3:129532334-129532334
36 RHO NM_000539.3(RHO):c.*224C>T SNV Uncertain Significance
343289 rs886057970 GRCh37: 3:129252785-129252785
GRCh38: 3:129533942-129533942
37 RHO NM_000539.3(RHO):c.399C>A (p.Ile133=) SNV Uncertain Significance
Not Provided
902117 rs372812523 GRCh37: 3:129249756-129249756
GRCh38: 3:129530913-129530913
38 RHO NM_000539.3(RHO):c.696+12G>A SNV Uncertain Significance
343281 rs55915536 GRCh37: 3:129251271-129251271
GRCh38: 3:129532428-129532428
39 RHO NM_000539.3(RHO):c.630C>T (p.Val210=) SNV Uncertain Significance
899388 rs371192803 GRCh37: 3:129251193-129251193
GRCh38: 3:129532350-129532350
40 RHO NM_000539.3(RHO):c.697-11G>A SNV Uncertain Significance
899389 rs367631575 GRCh37: 3:129251365-129251365
GRCh38: 3:129532522-129532522
41 RHO NM_000539.3(RHO):c.962T>A (p.Ile321Asn) SNV Uncertain Significance
861995 rs1316267671 GRCh37: 3:129252476-129252476
GRCh38: 3:129533633-129533633
42 RHO NM_000539.3(RHO):c.*1144C>T SNV Uncertain Significance
343307 rs886057977 GRCh37: 3:129253705-129253705
GRCh38: 3:129534862-129534862
43 RHO NM_000539.3(RHO):c.*633G>A SNV Uncertain Significance
343296 rs886057972 GRCh37: 3:129253194-129253194
GRCh38: 3:129534351-129534351
44 RHO NM_000539.3(RHO):c.*1455T>C SNV Uncertain Significance
343310 rs552362456 GRCh37: 3:129254016-129254016
GRCh38: 3:129535173-129535173
45 RHO NM_000539.3(RHO):c.*40C>T SNV Uncertain Significance
343284 rs886057968 GRCh37: 3:129252601-129252601
GRCh38: 3:129533758-129533758
46 RHO NM_000539.3(RHO):c.*1599G>A SNV Uncertain Significance
343311 rs576980794 GRCh37: 3:129254160-129254160
GRCh38: 3:129535317-129535317
47 RHO NM_000539.3(RHO):c.*970C>T SNV Uncertain Significance
343305 rs886057976 GRCh37: 3:129253531-129253531
GRCh38: 3:129534688-129534688
48 RHO NM_000539.3(RHO):c.*115G>A SNV Uncertain Significance
343285 rs886057969 GRCh37: 3:129252676-129252676
GRCh38: 3:129533833-129533833
49 RHO NM_000539.3(RHO):c.*741T>C SNV Uncertain Significance
343299 rs753496233 GRCh37: 3:129253302-129253302
GRCh38: 3:129534459-129534459
50 RHO NM_000539.3(RHO):c.*838A>T SNV Uncertain Significance
343300 rs886057974 GRCh37: 3:129253399-129253399
GRCh38: 3:129534556-129534556

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

73
# Symbol AA change Variation ID SNP ID
1 RHO p.Gly90Asp VAR_004783 rs104893790
2 RHO p.Thr94Ile VAR_004784 rs104893796
3 RHO p.Ala292Glu VAR_004827 rs104893789

Expression for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Autosomal Dominant 1.

Pathways for Night Blindness, Congenital Stationary, Autosomal Dominant 1

GO Terms for Night Blindness, Congenital Stationary, Autosomal Dominant 1

Cellular components related to Night Blindness, Congenital Stationary, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 U2-type precatalytic spliceosome GO:0071005 9.67 PRPF4 LSM8
2 photoreceptor connecting cilium GO:0032391 9.62 SPATA7 GNAT1
3 photoreceptor disc membrane GO:0097381 9.56 RHO GNAT1
4 photoreceptor outer segment membrane GO:0042622 9.46 RHO GNAT1
5 rod photoreceptor outer segment GO:0120200 9.26 SPATA7 RHO
6 photoreceptor outer segment GO:0001750 9.17 SPATA7 RHO GNAT1 CACNA1F

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor cell maintenance GO:0045494 9.73 SPATA7 RHO
2 detection of light stimulus involved in visual perception GO:0050908 9.67 GNAT1 CACNA1F
3 response to stimulus GO:0050896 9.65 SPATA7 RHO GNAT1 CACNA1F
4 phototransduction GO:0007602 9.58 RHO GNAT1
5 visual perception GO:0007601 9.56 SPATA7 RHO GNAT1 CACNA1F
6 response to light stimulus GO:0009416 9.5 RHO GNAT1
7 phototransduction, visible light GO:0007603 9.46 RHO GNAT1
8 rhodopsin mediated signaling pathway GO:0016056 8.92 RHO GNAT1

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

# Name GO ID Score Top Affiliating Genes
1 U6 snRNA binding GO:0017070 8.92 PRPF4 LSM8

Sources for Night Blindness, Congenital Stationary, Autosomal Dominant 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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