MCID: NGH001
MIFTS: 42

Night Blindness malady

Eye diseases, Rare diseases categories

Aliases & Classifications for Night Blindness

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 38NCIt, 27ICD9CM, 33MeSH, 25ICD10
See all sources

Night Blindness, Aliases & Descriptions:

Name: Night Blindness 9 11 43 60


Classifications:

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


External Ids:

Disease Ontology9 DOID:8499
ICD9CM27 368.6, 368.60
MeSH33 D009755
ICD1025 H53.6

Summaries for Night Blindness

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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 The phototransduction cascade and Diseases associated with visual transduction. 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 liver, eye and retina, and related mouse phenotypes are nervous system and vision/eye.

Related Diseases for Night Blindness

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Diseases in the Night Blindness family:

Hereditary Night Blindness Acquired Night Blindness

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

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1blindness32.3PDE6B, RHO
2x-linked congenital stationary night blindness31.7NYX, CACNA1F
3congenital stationary night blindness31.6NYX, CACNA1F, PDE6B, RHO
4hereditary night blindness31.2NYX, CACNA1F
5fundus albipunctatus31.2CACNA1F
6myopia30.9CACNA1F, NYX
7hyperopia30.8CACNA1F
8retinitis pigmentosa autosomal recessive30.5RHO, PDE6B
9aland island eye disease30.4CACNA1F, NYX
10retinal degeneration30.3RHO, PDE6B
11retinitis10.7
12autosomal dominant congenital stationary night blindness10.6
13autosomal recessive congenital stationary night blindness10.6
14retinitis pigmentosa10.6
15night blindness, congenital stationary , 1e, autosomal recessive10.5
16night blindness, congenital stationary , 1d, autosomal recessive10.5
17night blindness, congenital stationary , 1a, x-linked10.5
18night blindness, congenital stationary , 1f, autosomal recessive10.5
19night blindness, congenital stationary , 1b, autosomal recessive10.5
20night blindness, congenital stationary , 2b, autosomal recessive10.5
21night blindness, congenital stationary , 1c, autosomal recessive10.5
22night blindness, congenital stationary, autosomal dominant 310.5
23night blindness, congenital stationary, autosomal dominant 110.5
24night blindness, congenital stationary, autosomal dominant 210.5
25night blindness, congenital stationary , 2a, x-linked10.5
26acquired night blindness10.5
27choroideremia10.4
28xerophthalmia10.4
29chorioretinitis10.4
30night blindness - skeletal anomalies - dysmorphism10.4
31cystic fibrosis10.3
32night blindness skeletal anomalies unusual facies10.3
33astigmatism10.3CACNA1F
34obesity10.3
35cone-rod dystrophy10.3
36usher syndrome, type 3a10.3
37gyrate atrophy of choroid and retina with or without ornithinemia10.3
38keratomalacia10.3
39melanoma10.3
40woods black norbury syndrome10.3
41cacna1f-related x-linked congenital stationary night blindness10.3
42nyx-related x-linked congenital stationary night blindness10.3
43chondroectodermal dysplasia with night blindness10.3
44leber congenital amaurosis10.2RHO
45bietti crystalline corneoretinal dystrophy10.2
46retinitis pigmentosa 910.2
47retinitis pigmentosa 110.2
48cone-rod dystrophy 1610.2
49retinal cone dystrophy 3b10.2
50bile acid synthesis defect, congenital, 110.2

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:

31
Liver, Eye, Retina, Testes, Pancreas, Skeletal muscle, Colon, Skin

Animal Models for Night Blindness or affiliated genes

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MGI Mouse Phenotypes related to Night Blindness:

35
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 377)
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
Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. (16622103)
2006
20
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. (15761389)
2005
21
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. (15781871)
2005
22
Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? (16523234)
2005
23
Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. (12700134)
2003
24
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. (14609846)
2003
25
Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile. (12466267)
2003
26
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. (12641462)
2003
27
A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction. (11874764)
2002
28
Multifocal ERG findings in complete type congenital stationary night blindness. (11328749)
2001
29
Congenital stationary night blindness in briards in the UK. (11334084)
2001
30
Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1. (10982042)
2000
31
New light on night blindness. (11252742)
2000
32
A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. (9888392)
1999
33
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. (9529339)
1998
34
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. (9760193)
1998
35
Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. (7616540)
1995
36
Autosomal dominant stationary night-blindness. A large family rediscovered. (1789082)
1991
37
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
38
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. (2564836)
1989
39
Night blindness and conjunctival xerosis caused by vitamin A deficiency in patients with cystic fibrosis. (2789497)
1989
40
The molecular basis of retinoic acid induced night blindness. (2660792)
1989
41
Possible pathogenesis of congenital stationary night blindness. (3498070)
1987
42
Congenital stationary night blindness with negative electroretinogram. A new classification. (3488053)
1986
43
Unilateral night blindness with normal fundus. (6496621)
1984
44
The Eisdell pedigree. Congenital stationary night-blindness with myopia. (6364465)
1983
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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Search GEO for disease gene expression data for Night Blindness.

Pathways for genes affiliated with Night Blindness

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Compounds for genes affiliated with Night Blindness

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Sources:
24HMDB, 43Novoseek, 28IUPHAR
See all sources

Compounds related to Night Blindness according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1Guanosine monophosphate249.5PDE6B, GNAT1
2cgmp43 2810.4RHO, PDE6B

GO Terms for genes affiliated with Night Blindness

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Cellular components related to Night Blindness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor inner segmentGO:00019179.4GNAT1, RHO
2photoreceptor outer segment membraneGO:00426229.1GNAT1, RHO
3photoreceptor disc membraneGO:00973819.1GNAT1, PDE6B, RHO
4photoreceptor outer segmentGO:00017508.9RHO, GNAT1, CACNA1F

Biological processes related to Night Blindness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1detection of light stimulus involved in visual perceptionGO:00509089.4CACNA1F, GNAT1
2regulation of rhodopsin mediated signaling pathwayGO:00224009.1GNAT1, PDE6B, RHO
3rhodopsin mediated signaling pathwayGO:00160569.0RHO, PDE6B, GNAT1
4phototransduction, visible lightGO:00076038.8RHO, PDE6B, GNAT1
5retina development in camera-type eyeGO:00600418.7RHO, PDE6B, CACNA1F, GNAT1
6visual perceptionGO:00076017.0RHO, GPR179, GNAT1, NYX, CACNA1F, CABP4

Molecular functions related to Night Blindness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metal ion bindingGO:00468728.6RHO, PDE6B, CACNA1F, GNAT1

Products for genes affiliated with Night Blindness

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Night Blindness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet