MCID: NGH001
MIFTS: 48

Night Blindness malady

Eye diseases, Rare diseases categories

Summaries for Night Blindness

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Sources:
66Wikipedia, 34MalaCards
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Wikipedia:66 Nyctalopia (from Greek ????-, nykt- \"night\"; ?????, alaos \"blind, not seeing\", and ??, ops \"eye\"),... more...

MalaCards: Night Blindness is related to blindness and 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 Diseases associated with visual transduction and The phototransduction cascade. The drugs cod liver oil and vitamin a and the compounds Guanosine monophosphate and cgmp 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 41NCIt, 26ICD10
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Classifications:

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


Aliases & Descriptions:

night blindness 9 11 46 63


External Ids:

Disease Ontology9 DOID:8499
ICD9CM28 368.6, 368.60
MeSH36 D009755
ICD1026 H53.6

Related Diseases for Night Blindness

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Hereditary Night Blindness family:

Acquired Night Blindness night blindness

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1blindness32.1PDE6B, RHO
2congenital stationary night blindness31.7NYX, CACNA1F, PDE6B, RHO
3x-linked congenital stationary night blindness31.4NYX, CACNA1F
4hereditary night blindness30.9NYX, CACNA1F
5fundus albipunctatus30.7CACNA1F
6oguchi disease 130.6RHO, CACNA1F, NYX
7hyperopia30.4CACNA1F
8retinal degeneration30.3RHO, PDE6B
9leber congenital amaurosis30.1RHO
10aland island eye disease30.1CACNA1F, NYX
11retinitis10.7
12autosomal dominant congenital stationary night blindness10.6
13autosomal recessive congenital stationary night blindness10.5
14retinitis pigmentosa10.5
15myopia10.5
16night blindness, congenital stationary , 1d, autosomal recessive10.4
17xerophthalmia10.4
18acquired night blindness10.4
19chorioretinitis10.4
20congenital stationary night blindness, autosomal dominant 210.4
21congenital stationary night blindness, autosomal dominant 110.4
22night blindness, congenital stationary , 1e, autosomal recessive10.4
23cystic fibrosis10.3
24congenital stationary night blindness, type 1b10.3
25congenital stationary night blindness, type 2b10.3
26congenital stationary night blindness, type 1c10.3
27night blindness, congenital stationary , 1a, x-linked10.3
28keratomalacia10.3
29choroideremia10.3
30melanoma10.3
31obesity10.3
32night blindness skeletal anomalies unusual facies10.3
33congenital stationary night blindness, type 1d10.3
34congenital stationary night blindness, type 1e10.3
35congenital stationary night blindness, type 1f10.3
36night blindness - skeletal anomalies - dysmorphism10.3
37duchenne muscular dystrophy10.2
38primary biliary cirrhosis10.2
39color blindness10.2
40eye disease10.2
41muscular dystrophy10.2
42cone-rod dystrophy 210.2
43cacna1f-related x-linked congenital stationary night blindness10.2
44nyx-related x-linked congenital stationary night blindness10.2
45night blindness, congenital stationary , 1f, autosomal recessive10.2
46night blindness, congenital stationary , 1b, autosomal recessive10.2
47retinitis pigmentosa 6410.2
48night blindness, congenital stationary , 2b, autosomal recessive10.2
49night blindness, congenital stationary , 1c, autosomal recessive10.2
50night blindness, congenital stationary , 2a, x-linked10.2

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



Diseases related to night blindness

Symptoms for Night Blindness

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Drugs & Therapeutics for Night Blindness

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Night Blindness

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Anatomical Context for Night Blindness

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Sources:
34MalaCards
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MalaCards organs/tissues related to Night Blindness:

34
Eye, Liver, Retina, Testes, Colon, Pancreas, Skin

Animal Models for Night Blindness or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Night Blindness:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1RHO, PDE6B, CABP4, CACNA1F, GNAT1
2MP:00053916.6RHO, GPR179, GNAT1, NYX, CACNA1F, CABP4

Publications for Night Blindness

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Sources:
53PubMed
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Articles related to Night Blindness:

(show top 50)    (show all 359)
idTitleAuthorsYear
1
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
2
A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa. (23911150)
2013
3
Case of acquired night blindness in a hemodialysis patient. (24314428)
2013
4
Assessment of night vision problems in patients with congenital stationary night blindness. (23658786)
2013
5
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. (23246293)
2013
6
Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels. (23334438)
2013
7
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin. (23579341)
2013
8
Night blindness in a teenager with cystic fibrosis. (21959340)
2011
9
Evaluation of essential trace and toxic elements in biological samples of normal and night blindness children of age groups 3-7 and 8-12 years. (20820941)
2011
10
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
11
1 rhodopsin mutations in congenital night blindness. (20238025)
2010
12
Phrynoderma and night blindness. (20195056)
2010
13
Vitamin A responsive night blindness in Dent's disease. (19444483)
2009
14
Serum retinol binding protein as an indicator of vitamin A status in cirrhotic patients with night blindness. (19568486)
2008
15
Photopic ON- and OFF-responses in complete type of congenital stationary night blindness in relation to stimulus intensity. (18026866)
2008
16
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). (18660533)
2008
17
Phototransduction in a transgenic mouse model of Nougaret night blindness. (16793893)
2006
18
Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. (16622103)
2006
19
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. (15761389)
2005
20
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (15781871)
2005
21
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? (16523234)
2005
22
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. (12700134)
2003
23
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. (14609846)
2003
24
Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile. (12466267)
2003
25
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. (12641462)
2003
26
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. (11874764)
2002
27
Multifocal ERG findings in complete type congenital stationary night blindness. (11328749)
2001
28
Congenital stationary night blindness in briards in the UK. (11334084)
2001
29
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. (10982042)
2000
30
New light on night blindness. (11252742)
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
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. (7616540)
1995
35
Autosomal dominant stationary night-blindness. A large family rediscovered. (1789082)
1991
36
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. (1969841)
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
The molecular basis of retinoic acid induced night blindness. (2660792)
1989
40
Possible pathogenesis of congenital stationary night blindness. (3498070)
1987
41
Congenital stationary night blindness with negative electroretinogram. A new classification. (3488053)
1986
42
Unilateral night blindness with normal fundus. (6496621)
1984
43
The Eisdell pedigree. Congenital stationary night-blindness with myopia. (6364465)
1983
44
Essential night blindness with cone monochromasy. (6982194)
1982
45
Congenital stationary night blindness: an animal model. (308060)
1978
46
A historical note on the mode of administration of vitamin A for the cure of night blindness. (341683)
1978
47
Vitamin A deficiency with xerophthalmia and night blindness in cystic fibrosis. (5303293)
1968
48
Nutritional night blindness. (13627856)
1959
49
Night blindness. (13308612)
1955
50
Primary chorioretinal aberrations with night blindness; treatment and conclusions. (15443029)
1950

Variations for Night Blindness

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Expression for genes affiliated with Night Blindness

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN
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Compounds for genes affiliated with Night Blindness

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25HMDB, 46Novoseek, 30IUPHAR
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Compounds related to Night Blindness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanosine monophosphate259.5PDE6B, GNAT1
2cgmp46 3010.4RHO, PDE6B

GO Terms for genes affiliated with Night Blindness

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17Gene Ontology
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Cellular components related to Night Blindness according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:0019179.4RHO, GNAT1
2photoreceptor outer segment membraneGO:0426229.1RHO, GNAT1
3photoreceptor disc membraneGO:0973819.1RHO, PDE6B, GNAT1
4photoreceptor outer segmentGO:0017508.9GNAT1, CACNA1F, RHO

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

idNameGO IDScoreTop Affiliating Genes
1detection of light stimulus involved in visual perceptionGO:0509089.4CACNA1F, GNAT1
2regulation of rhodopsin mediated signaling pathwayGO:0224009.1GNAT1, PDE6B, RHO
3rhodopsin mediated signaling pathwayGO:0160569.0RHO, PDE6B, GNAT1
4phototransduction, visible lightGO:0076038.8RHO, PDE6B, GNAT1
5retina development in camera-type eyeGO:0600418.7RHO, PDE6B, CACNA1F, GNAT1
6visual perceptionGO:0076017.0RHO, GPR179, GNAT1, NYX, CACNA1F, CABP4

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

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:0468728.6RHO, PDE6B, CACNA1F, GNAT1

Products for genes affiliated with Night Blindness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Night Blindness

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet