MCID: NGH001
MIFTS: 49

Night Blindness malady

Eye diseases, Rare diseases, Metabolic diseases categories
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Summaries for Night Blindness

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Wikipedia:65 Nyctalopia (from Greek ????-, nykt- \"night\"; ?????, alaos \"blind, not seeing\", and ??, ops \"eye\"),... more...

MalaCards based summary: Night Blindness is related to 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 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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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 27ICD9CM, 34MeSH, 25ICD10
See all sources

Night Blindness, Aliases & Descriptions:

Name: Night Blindness 8 10 44 62


Classifications:

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


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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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 111)
idRelated DiseaseScoreTop Affiliating Genes
1blindness32.4PDE6B, RHO
2x-linked congenital stationary night blindness31.7NYX, CACNA1F
3congenital stationary night blindness31.6NYX, CACNA1F, PDE6B, RHO
4hereditary night blindness31.2NYX, CACNA1F
5fundus albipunctatus31.1CACNA1F
6hyperopia30.8CACNA1F
7oguchi disease 130.6RHO, CACNA1F, NYX
8aland island eye disease30.4CACNA1F, NYX
9retinal degeneration30.3RHO, PDE6B
10retinitis10.7
11autosomal dominant congenital stationary night blindness10.6
12autosomal recessive congenital stationary night blindness10.6
13retinitis pigmentosa10.6
14myopia10.5
15congenital stationary night blindness, autosomal dominant 210.5
16xerophthalmia10.4
17acquired night blindness10.4
18chorioretinitis10.4
19cystic fibrosis10.4
20choroideremia10.4
21congenital stationary night blindness, autosomal dominant 110.4
22congenital stationary night blindness, autosomal dominant 310.4
23night blindness, congenital stationary , 1d, autosomal recessive10.4
24night blindness, congenital stationary , 1e, autosomal recessive10.4
25night blindness, congenital stationary , 1a, x-linked10.4
26astigmatism10.3CACNA1F
27obesity10.3
28keratomalacia10.3
29melanoma10.3
30night blindness skeletal anomalies unusual facies10.3
31congenital stationary night blindness, type 1b10.3
32congenital stationary night blindness, type 2b10.3
33congenital stationary night blindness, type 1c10.3
34congenital stationary night blindness, type 1d10.3
35congenital stationary night blindness, type 1e10.3
36congenital stationary night blindness, type 1f10.3
37night blindness - skeletal anomalies - dysmorphism10.3
38leber congenital amaurosis10.2RHO
39duchenne muscular dystrophy10.2
40primary biliary cirrhosis10.2
41gyrate atrophy10.2
42jejunoileitis10.2
43color blindness10.2
44eye disease10.2
45muscular dystrophy10.2
46cone-rod dystrophy 210.2
47cacna1f-related x-linked congenital stationary night blindness10.2
48nyx-related x-linked congenital stationary night blindness10.2
49night blindness, congenital stationary , 1f, autosomal recessive10.2
50night blindness, congenital stationary , 1b, autosomal recessive10.2

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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Genetic Tests for Night Blindness

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Anatomical Context for Night Blindness

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MalaCards organs/tissues related to Night Blindness:

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

Animal Models for Night Blindness or affiliated genes

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MGI Mouse Phenotypes related to Night Blindness:

36
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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Articles related to Night Blindness:

(show top 50)    (show all 367)
idTitleAuthorsYear
1
Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. (24397708)
2014
2
Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. (24715752)
2014
3
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
4
Case of acquired night blindness in a hemodialysis patient. (24314428)
2013
5
Assessment of night vision problems in patients with congenital stationary night blindness. (23658786)
2013
6
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. (23246293)
2013
7
Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels. (23334438)
2013
8
Insights into congenital stationary night blindness based on the structure of G90D rhodopsin. (23579341)
2013
9
Night blindness in a teenager with cystic fibrosis. (21959340)
2011
10
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
11
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
12
1 rhodopsin mutations in congenital night blindness. (20238025)
2010
13
Phrynoderma and night blindness. (20195056)
2010
14
Vitamin A responsive night blindness in Dent's disease. (19444483)
2009
15
Serum retinol binding protein as an indicator of vitamin A status in cirrhotic patients with night blindness. (19568486)
2008
16
Photopic ON- and OFF-responses in complete type of congenital stationary night blindness in relation to stimulus intensity. (18026866)
2008
17
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
18
Phototransduction in a transgenic mouse model of Nougaret night blindness. (16793893)
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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Expression patterns in normal tissues for genes affiliated with Night Blindness

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Pathways for genes affiliated with Night Blindness

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Compounds for genes affiliated with Night Blindness

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Sources:
24HMDB, 44Novoseek, 28IUPHAR
See all sources

Compounds related to Night Blindness according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanosine monophosphate249.5PDE6B, GNAT1
2cgmp44 2810.4RHO, PDE6B

GO Terms for genes affiliated with Night Blindness

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet