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, Skin, Heart, Colon, Pancreas

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:000363110.1GRK1, RHO, PDE6B, SAG, GNAZ, GNAT1
2MP:00053919.7RPE65, GRM6, GRK1, RHO, RDH5, PDE6B

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
Dysregulation of Cav 1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. (24064553)
2013
2
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2. (24051672)
2013
3
Scientific letter: A double-blind, randomised, placebo-controlled, 3-month crossover trial of night-time oxygen therapy in advanced systolic heart failure. (22865866)
2012
4
Serum levels and liver store of retinol and their association with night blindness in individuals with class III obesity. (21964759)
2012
5
Nutritional amblyopia combined with night blindness. (23275794)
2012
6
GNAT1 associated with autosomal recessive congenital stationary night blindness. (22190596)
2012
7
Evaluation of status of calcium, magnesium, potassium, and sodium levels in biological samples in children of different age groups with normal vision and night blindness. (21888021)
2011
8
Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathy. (20800609)
2010
9
Risk factors for maternal night blindness in rural South India. (19437315)
2009
10
Serum retinol binding protein as an indicator of vitamin A status in cirrhotic patients with night blindness. (19568486)
2008
11
A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness. (18246026)
2008
12
Nystagmus characteristics in congenital stationary night blindness (CSNB). (18227204)
2008
13
Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex. (17970998)
2007
14
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. (17881478)
2007
15
Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression. (16476079)
2006
16
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? (16523234)
2005
17
Reversible night blindness in a patient with neuroendocrine tumour of pancreas. (15359255)
2005
18
Congenital stationary night blindness in a Thoroughbred and a Paso Fino. (16359365)
2005
19
The night vision threshold test is a better predictor of low serum vitamin A concentration than self-reported night blindness in pregnant urban Nepalese women. (15465750)
2004
20
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. (12641462)
2003
21
Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy. (12208270)
2002
22
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. (11581222)
2001
23
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. (11381068)
2001
24
Night blindness during pregnancy and subsequent mortality among women in Nepal: effects of vitamin A and beta-carotene supplementation. (10997544)
2000
25
Night blindness following hemicolectomy and radiotherapy. (10376086)
1999
26
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) (10549660)
1999
27
ON-pathway dysfunction in a patient with acquired unilateral night blindness. (9869462)
1998
28
Rod and cone function in the Nougaret form of stationary night blindness. (9682699)
1998
29
Diagnosis of night blindness and serum vitamin A level: a population-based study. (7554018)
1995
30
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. (7550309)
1995
31
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. (7966198)
1994
32
Scotopic threshold response in complete and incomplete types of congenital stationary night blindness. (8088964)
1994
33
Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type. (8312830)
1993
34
Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness. (1486939)
1992
35
Autosomal dominant stationary night-blindness. A large family rediscovered. (1789082)
1991
36
A form of congenital stationary night blindness with apparent defect of rod phototransduction. (2303327)
1990
37
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. (2564836)
1989
38
Night blindness and conjunctival xerosis caused by vitamin A deficiency in patients with cystic fibrosis. (2789497)
1989
39
X-linked congenital stationary night blindness. Review and report of a family with hyperopia. (3052384)
1988
40
The Eisdell pedigree. Congenital stationary night-blindness with myopia. (6364465)
1983
41
Night blindness and the retinal mechanism of visual adaptation. (1083707)
1976
42
Hereditary vitreoretinal degeneration and night blindness. (5305106)
1969
43
Visual functions in congenital night blindness. (5297160)
1966
44
Nutritional night blindness. (13627856)
1959
45
Night-blindness. (13645395)
1959
46
Electroretinography in night blindness and other vitamin A deficiencies. (13268138)
1955
47
Congenital stationary night blindness without ophthalmoscopic or other abnormalities. (13057421)
1953
48
Primary chorioretinal aberrations with night blindness; discussion. (15443030)
1950
49
NIGHT BLINDNESS. (18169603)
1939
50
The regeneration of visual purple: its relation to dark adaptation and night blindness. (16994193)
1931

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