MCID: NGH001
MIFTS: 53

Night Blindness malady

Eye diseases category

Summaries for Night Blindness

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63Wikipedia, 32MalaCards
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Wikipedia:63 Nyctalopia (from Greek νύκτ-, nykt- \"night\"; αλαός, alaos \"blind, not seeing\", and ὄψ,... more...

MalaCards: Night Blindness is related to congenital stationary night blindness and x-linked congenital stationary night blindness. An important gene associated with Night Blindness is PDE6B (phosphodiesterase 6B, cGMP-specific, rod, beta), and among its related pathways are the visual cycle I (vertebrates) and Retinol metabolism. The drugs cod liver oil and vitamin a and the compounds phosphorhodopsin and gramicidin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and retina, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Night Blindness

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 39NCIt, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Aliases & Descriptions:

night blindness 8 10 44 60


External Ids:

Disease Ontology8 DOID:8499
ICD9CM27 368.60, 368.6
MeSH34 D009755
ICD1025 H53.6

Related Diseases for Night Blindness

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Night Blindness family:

Acquired Night Blindness

Diseases related to Night Blindness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1congenital stationary night blindness31.7CACNA1F, LRIT3, NYX
2x-linked congenital stationary night blindness31.0CACNA1F, NYX
3retinitis30.9SAG, RDH5, RHO
4hereditary night blindness30.8NYX, SAG, CACNA1F
5oguchi disease 130.5CACNA1F, SAG, RDH5, RHO, GRK1, NYX
6chorioretinitis30.5SAG
7fundus albipunctatus30.4CACNA1F, RDH5
8cone-rod dystrophy 230.2RHO, RPE65
9retinal degeneration30.2RPE65, SAG, PDE6B, RDH5, RHO, GRK1
10night blindness, congenital stationary , 2a, x-linked30.2CACNA1F, OA2
11eye disease30.2RHO, SAG
12aland island eye disease30.0CACNA1F, NYX, OA2
13fundus dystrophy30.0RPE65, RDH5, RHO, GRK1
14leber congenital amaurosis30.0RPE65, PDE6B, RHO
15retinal disease30.0RPE65, CACNA1F, SAG, PDE6B, RDH5, RHO
16acquired night blindness10.5
17retinitis pigmentosa10.5
18autosomal dominant congenital stationary night blindness10.5
19autosomal recessive congenital stationary night blindness10.5
20myopia10.4
21night blindness, congenital stationary , 1d, autosomal recessive10.4
22xerophthalmia10.3
23congenital stationary night blindness, autosomal dominant 210.3
24congenital stationary night blindness, autosomal dominant 110.3
25night blindness, congenital stationary , 1e, autosomal recessive10.3
26cystic fibrosis10.3
27choroideremia10.3
28congenital stationary night blindness, type 1b10.3
29congenital stationary night blindness, type 2b10.3
30congenital stationary night blindness, type 1c10.3
31night blindness, congenital stationary , 1a, x-linked10.3
32keratomalacia10.2
33color blindness10.2
34melanoma10.2
35obesity10.2
36night blindness skeletal anomalies unusual facies10.2
37congenital stationary night blindness, type 1d10.2
38congenital stationary night blindness, type 1e10.2
39congenital stationary night blindness, type 1f10.2
40night blindness - skeletal anomalies - dysmorphism10.2
41gyrate atrophy10.1
42primary biliary cirrhosis10.1
43duchenne muscular dystrophy10.1
44congenital nystagmus10.1
45congenital muscular dystrophy10.1
46muscular dystrophy10.1
47cacna1f-related x-linked congenital stationary night blindness10.1
48nyx-related x-linked congenital stationary night blindness10.1
49night blindness, congenital stationary , 1f, autosomal recessive10.1
50night blindness, congenital stationary , 1b, autosomal recessive10.1

Graphical network of the top 20 diseases related to Night Blindness:



Diseases related to night blindness

Clinical Features for Night Blindness

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Drugs & Therapeutics for Night Blindness

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Night Blindness

Drug clinical trials:

Search ClinicalTrials for Night Blindness

Search NIH Clinical Center for Night Blindness

Search CenterWatch for Night Blindness

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Night Blindness

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Anatomical Context for Night Blindness

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Sources:
32MalaCards
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MalaCards organs/tissues related to Night Blindness:

32
Eye, Liver, Retina, Testes, Heart, Colon, Pancreas, Skin

Animal Models for Night Blindness or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Night Blindness:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000363110.1CABP4, CACNA1F, GNAT1, GNAZ, SAG, PDE6B
2MP:00053919.7NYX, RPE65, CABP4, CACNA1F, GNAT1, SAG

Publications for Night Blindness

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Sources:
50PubMed
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Articles related to Night Blindness:

(show top 50)    (show all 362)
idTitleAuthorsYear
1
Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels. (23334438)
2013
2
Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness. (23966763)
2013
3
Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa. (21920492)
2012
4
Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness. (22549882)
2012
5
A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene. (22008250)
2012
6
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease. (22959359)
2012
7
Images in the medical sciences. Night blindness in a patient with acquired immunodeficiency syndrome. (19884817)
2010
8
Fundus white spots and acquired night blindness due to vitamin A deficiency. (19809843)
2009
9
Gradient of deficit in cone responses in the incomplete form of congenital stationary night blindness revealed by multifocal electroretinography. (17721714)
2008
10
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness. (16637847)
2006
11
Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness. (15331616)
2005
12
Molecular genetic study of congenital stationary night blindness]. (15584351)
2004
13
Validation of night blindness reports among children and women in a vitamin A deficient population in rural Tanzania. (14985678)
2004
14
Rapid recovery of night blindness due to obesity surgery after vitamin A repletion therapy. (15031184)
2004
15
Photopic and scotopic VEPs in patients with congenital stationary night-blindness. (15675196)
2004
16
Constitutive opsin signaling: night blindness or retinal degeneration? (15059605)
2004
17
Slow-progressing photoreceptor cell degeneration in night blindness c mutant zebrafish. (15044842)
2003
18
Fear of the dark in children: is stationary night blindness the cause? (12543840)
2003
19
Characterization of rhodopsin congenital night blindness mutant T94I. (12590588)
2003
20
A potential spontaneous rat model of X-linked congenital stationary night blindness. (12906122)
2003
21
Benign adult familial myoclonic epilepsy (BAFME) with night blindness. (12027575)
2002
22
Multifocal ERG findings in complete type congenital stationary night blindness. (11328749)
2001
23
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. (11281458)
2001
24
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity. (11172618)
2001
25
Maternal night blindness increases risk of mortality in the first 6 months of life among infants in Nepal. (11340108)
2001
26
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. (10982042)
2000
27
Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. (10702259)
2000
28
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. (11078833)
2000
29
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. (11062471)
2000
30
Development of a 1.4-Mb BAC/PAC contig and physical map within the critical region for complete X-linked congenital stationary night blindness in Xp11.4. (10950933)
2000
31
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. (9888392)
1999
32
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. (9529339)
1998
33
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. (9760193)
1998
34
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (9662400)
1998
35
Night blindness of 30 years duration and a recent decrease in central vision. Choroideremia. (7616586)
1995
36
Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia. (8375106)
1993
37
The molecular basis of retinoic acid induced night blindness. (2660792)
1989
38
Oscillatory potentials of X-linked carriers of congenital stationary night blindness. (2785978)
1989
39
Rod densitometry in night blindness: a review and two puzzling cases. Rod densitometry in night blindness. (3042324)
1988
40
Photoreceptor responses of patients with congenital stationary night blindness. (20454333)
1987
41
Congenital stationary night blindness presenting as Leber's congenital amaurosis. (3493759)
1987
42
Congenital stationary night blindness with negative electroretinogram. A new classification. (3488053)
1986
43
Congenital stationary night blindness. (3487908)
1986
44
Blindness and night-blindness in Akkadian. (16468196)
1986
45
Congenital stationary night blindness with myopia: a clinico-pathologic study. (3488187)
1986
46
Essential night blindness with cone monochromasy. (6982194)
1982
47
Night blindness as a tool for xerophthalmia screening. (6974495)
1981
48
Vitamin A for night-blindness in prolonged jaundice. (5314567)
1971
49
Determination of qualitative night blindness. (20288512)
1947
50
Night-blindness with peculiar Conjunctival Changes in Children. (19976368)
1912

Genetic Variations for Night Blindness

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Expression for genes affiliated with Night Blindness

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Night Blindness

Search GEO for disease gene expression data for Night Blindness.

Pathways for genes affiliated with Night Blindness

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Sources:
37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 51QIAGEN, 29KEGG
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Compounds for genes affiliated with Night Blindness

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 11DrugBank
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Compounds related to Night Blindness according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1phosphorhodopsin4410.7SAG, RHO
2gramicidin4410.6SLC24A1, RHO
311-cis-retinol44 2411.6RPE65, RDH5, RHO
4metarhodopsin ii4410.6GRK1, RHO, SAG, GNAZ
5phytate4410.6SAG, GRK1
6cgmp44 2811.6GNAZ, SAG, PDE6B, RHO, GRK1
7(+-)-bay k 86445910.6CACNA1F, OA2
8vitamin a44 11 2412.5GRK1, RHO, RDH5, SAG, RPE65
9nnc 55-0396 dihydrochloride5910.5CACNA1F, OA2
10retinoid4410.5RPE65, SAG, RDH5, RHO
11mibefradil dihydrochloride5910.5CACNA1F, OA2
12omega-conotoxin gvia5910.5CACNA1F, OA2
13pregabalin59 44 1112.4CACNA1F, OA2
14guanylate4410.3GRK1, RHO, SAG
15glutamate4410.3GRM6, GRK1, RHO, SAG, NLRP12
16hydroxylamine4410.1SAG, RHO

GO Terms for genes affiliated with Night Blindness

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16Gene Ontology
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Cellular components related to Night Blindness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:09738110.5GRK1, RHO, PDE6B, GNAT1
2photoreceptor inner segmentGO:00191710.4RHO, SAG, GNAT1
3new growing cell tipGO:03584110.4GRM6, TRPM1
4extrinsic to internal side of plasma membraneGO:03123410.4GNAZ, GNAT1
5photoreceptor outer segmentGO:00175010.3RHO, SAG, GNAT1
6photoreceptor outer segment membraneGO:04262210.1RHO, GNAT1

Biological processes related to Night Blindness according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of rhodopsin mediated signaling pathwayGO:02240010.5GNAT1, SAG, PDE6B, RHO, GRK1
2photoreceptor cell morphogenesisGO:00859410.5GRK1, CABP4
3detection of light stimulus involved in visual perceptionGO:05090810.5CACNA1F, GNAT1, GRM6
4rhodopsin mediated signaling pathwayGO:01605610.5GNAT1, SAG, PDE6B, RHO, GRK1, SLC24A1
5retina development in camera-type eyeGO:06004110.4GRM6, RHO, PDE6B, GNAT1, CACNA1F
6response to light intensityGO:00964210.4SLC24A1, GNAT1
7phototransduction, visible lightGO:00760310.4RPE65, GNAT1, SAG, PDE6B, RDH5, RHO
8cellular response to electrical stimulusGO:07125710.4GNAT1, RPE65
9retinoid metabolic processGO:00152310.3RPE65, RDH5, RHO
10visual perceptionGO:00760110.2NYX, RPE65, CABP4, CACNA1F, GNAT1, SAG
11G-protein coupled glutamate receptor signaling pathwayGO:00721610.1TRPM1, GRM6

Molecular functions related to Night Blindness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1G-protein beta/gamma-subunit complex bindingGO:03168310.4GNAZ, GNAT1

Products for genes affiliated with Night Blindness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Night Blindness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet