Night Blindness

Categories: Eye diseases, Metabolic diseases

Aliases & Classifications for Night Blindness

MalaCards integrated aliases for Night Blindness:

Name: Night Blindness 12 74 54 43 15 71 32


External Ids:

Disease Ontology 12 DOID:8499
ICD9CM 34 368.6 368.60
MeSH 43 D009755
SNOMED-CT 67 65194006 75390007
ICD10 32 H53.6 H53.60
UMLS 71 C0028077

Summaries for Night Blindness

MalaCards based summary : Night Blindness is related to x-linked congenital stationary night blindness and night blindness, congenital stationary, type 2a, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways are Signaling by GPCR and Phototransduction. The drugs Ranibizumab and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Nyctalopia (/?n?kt?'lo?pi?/ from Greek ????- (nykt-), meaning 'night', ????? (alaos), meaning 'blind,... more...

Related Diseases for Night Blindness

Diseases in the Night Blindness family:

Acquired Night Blindness

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

(show top 50) (show all 242)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 35.3 NYX CACNA1F
2 night blindness, congenital stationary, type 2a 35.2 NYX CACNA1F
3 night blindness, congenital stationary, type 1e 35.2 NYX GPR179 CACNA1F
4 night blindness, congenital stationary, autosomal dominant 1 35.1 RHO GNAT1 CACNA1F
5 autosomal dominant congenital stationary night blindness 34.9 RHO PDE6B GNAT1
6 night blindness, congenital stationary, type 1b 34.9 TRPM1 NYX LRIT3 GRM6 GPR179
7 night blindness, congenital stationary, type 1c 34.7 TRPM1 NYX GRM6 GPR179 CACNA1F CABP4
8 autosomal recessive congenital stationary night blindness 34.7 SLC24A1 GRM6 GNB3 GNAT1
9 oguchi disease 1 34.3 SAG GRK1
10 night blindness, congenital stationary, type 1a 34.0 RHO RDH5 NYX LRIT3 GRM6 GRK1
11 oguchi disease 33.3 SAG RHO RDH5 PDE6B NYX GRM6
12 melanoma-associated retinopathy 32.9 TRPM1 SAG RHO
13 leber congenital amaurosis 2 32.8 RPE65 RHO RDH5
14 choroideremia 32.7 RPGR RPE65 ABCA4
15 gyrate atrophy of choroid and retina 32.4 RPGR RPE65 RHO ABCA4
16 enhanced s-cone syndrome 32.1 RPGR RPE65 RHO NR2E3 GRK1 GNAT1
17 yemenite deaf-blind hypopigmentation syndrome 31.8 RPGR RPE65 RHO ABCA4
18 senior-loken syndrome 1 31.7 RPGR RPE65 ABCA4
19 congenital stationary night blindness 31.4 TRPM1 SLC24A1 SAG RPGR RPE65 RHO
20 pathologic nystagmus 31.3 RPE65 RHO NYX CACNA1F CABP4
21 cone-rod dystrophy 2 31.2 SAG RPGR RPE65 RHO PDE6B NR2E3
22 aland island eye disease 31.0 RPE65 NYX CACNA1F
23 fundus albipunctatus 31.0 SAG RPGR RPE65 RHO RDH5 RBP3
24 retinitis 30.7 RPGR RPE65 RHO PDE6B ABCA4
25 cancer-associated retinopathy 30.7 SAG RHO
26 cone-rod dystrophy 3 30.4 CACNA1F CABP4 ABCA4
27 sclerosing keratitis 30.4 SAG RBP3
28 chorioretinitis 30.1 SAG RBP3
29 color blindness 30.1 RPGR RPE65 RHO ABCA4
30 retinitis pigmentosa 4 30.0 RPGR RHO GNAT1
31 scotoma 30.0 RPGR RPE65 RHO ABCA4
32 cone dystrophy 29.8 RPGR RPE65 RHO RDH5 PDE6B ABCA4
33 retinitis pigmentosa 29.8 TRPM1 SLC24A1 SAG RPGR RPE65 RHO
34 myopia 29.8 TRPM1 SLC24A1 RPGR RHO RDH5 PDE6B
35 inherited retinal disorder 29.7 RPGR RPE65 PDE6B NYX NR2E3 CACNA1F
36 eye disease 29.1 SAG RPGR RPE65 RHO RBP3 PDE6B
37 retinoschisis 1, x-linked, juvenile 29.0 TRPM1 RPGR RPE65 RHO NYX NR2E3
38 retinal degeneration 28.9 SAG RPGR RPE65 RHO RDH5 RBP3
39 stargardt disease 28.8 RPGR RPE65 RHO RDH5 PDE6B NR2E3
40 achromatopsia 28.8 RPGR RPE65 RHO PDE6B NYX NR2E3
41 retinal disease 28.8 SAG RPGR RPE65 RHO RDH5 PDE6B
42 macular degeneration, age-related, 1 28.8 RPGR RPE65 RHO RDH5 RBP3 PDE6B
43 fundus dystrophy 27.9 TRPM1 SAG RPGR RPE65 RHO RDH5
44 night blindness, congenital stationary, type 1d 12.9
45 night blindness, congenital stationary, type 1f 12.9
46 night blindness, congenital stationary, autosomal dominant 2 12.9
47 night blindness, congenital stationary, autosomal dominant 3 12.9
48 night blindness, congenital stationary, type 1h 12.9
49 night blindness, congenital stationary, type 1g 12.8
50 night blindness, congenital stationary, type1i 12.7

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

Diseases related to Night Blindness

Symptoms & Phenotypes for Night Blindness

UMLS symptoms related to Night Blindness:

photophobia, amaurosis fugax, metamorphopsia, other specified visual disturbances, visual disturbance, subjective visual disturbance, unspecified, visual manifestations

GenomeRNAi Phenotypes related to Night Blindness according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.15 GRK1
2 Decreased viability GR00240-S-1 10.15 LRIT3 RDH5
3 Decreased viability GR00301-A 10.15 GRK1
4 Decreased viability GR00342-S-1 10.15 GRK1
5 Decreased viability GR00342-S-2 10.15 GRK1
6 Decreased viability GR00381-A-1 10.15 LRIT3 NYX RDH5
7 Decreased viability GR00381-A-2 10.15 NYX
8 Decreased viability GR00381-A-3 10.15 NYX
9 Decreased viability GR00402-S-2 10.15 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GPR179
10 no effect GR00402-S-1 9.62 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GPR179

MGI Mouse Phenotypes related to Night Blindness:

# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.06 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GRK1
2 vision/eye MP:0005391 9.62 ABCA4 CABP4 CACNA1F GNAT1 GNB3 GPR179
3 pigmentation MP:0001186 9.43 ABCA4 GNAT1 PDE6B RHO RPE65 RPGR

Drugs & Therapeutics for Night Blindness

Drugs for Night Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ranibizumab Approved Phase 4 347396-82-1 459903
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Racepinephrine Approved Phase 4 329-65-7 838
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Angiogenesis Inhibitors Phase 4
11 Autonomic Agents Phase 4
12 Antiemetics Phase 4
13 Epinephryl borate Phase 4
14 Gastrointestinal Agents Phase 4
15 Methylprednisolone Acetate Phase 4
16 Hormone Antagonists Phase 4
17 Neuroprotective Agents Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Anti-Inflammatory Agents Phase 4
20 glucocorticoids Phase 4
21 Hormones Phase 4
22 Orange Approved Phase 3
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
Lutein Approved, Investigational, Nutraceutical Phase 3 127-40-2 6433159
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
27 Tocotrienol Investigational Phase 3 6829-55-6
28 Tin Fluorides Phase 2, Phase 3
29 Vaccines Phase 2, Phase 3
30 Tocopherols Phase 3
31 Tocotrienols Phase 3
32 Calciferol Phase 3
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
Beta carotene Approved, Nutraceutical Phase 2 7235-40-7
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
37 HIV Protease Inhibitors Phase 2
protease inhibitors Phase 2
39 BB 1101 Phase 2
40 Carotenoids Phase 2
41 Provitamins Phase 2
42 Cassava Phase 2
43 Trace Elements Phase 2
44 Micronutrients Phase 2
45 Antioxidants Phase 2
46 Protective Agents Phase 2
47 Vitamins Phase 2
48 Nutrients Phase 2
49 retinol Phase 2
50 Retinol palmitate Phase 2

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Effects of Ranibizumab to Delay or Regression Non-proliferative Diabetic Retinopathy(NPDR) With DME Assessed by Microaneurysm Changes: A Pilot Study Unknown status NCT02834663 Phase 4 Lucentis
2 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis, Severe Sepsis and Septic Shock: Prospective Randomized, Double Blind Placebo Controlled Clinical Trials Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
3 Impact of Supplementation With Dual Megadose of Vitamin A in the Post-partum About Vitamin A Levels in Breast Milk, Serum Levels of Vitamin A and Iron in the Binomial Mother-son and Growth and Morbidity of Children Under 6 Months Completed NCT00742937 Phase 2, Phase 3
4 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit? Completed NCT02043223 Phase 2, Phase 3
5 Efficacy of β-carotene Biofortified Maize in Improving Vitamin A Status and Reducing the Prevalence of Vitamin A Deficiency Among Children in Rural Zambia Completed NCT01695148 Phase 3
6 Randomized Trial for Retinitis Pigmentosa Completed NCT00000116 Phase 3 Vitamin A;Nutritional Supplement
7 Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa Completed NCT00000114 Phase 3 Vitamin E;Vitamin A
8 Randomized Clinical Trial for Retinitis Pigmentosa Completed NCT00346333 Phase 3 Lutein
9 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
10 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
11 Randomised Double-blind Placebo-controlled Trial to Evaluate the Impact of Vitamin A on Maternal Mortality in Ghana Completed NCT00211341 Phase 3
12 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants Recruiting NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
13 A Randomized Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Terminated NCT00128557 Phase 3 vitamin A supplementation (50,000 IU)
14 A Randomized Controlled Trial in Human Neonates to Determine the Effect of Vitamin A Supplementation on Immune Responses Unknown status NCT01476358 Phase 2
15 Dexamethasone in Retinitis Pigmentosa Cystoid Macular Edema Unknown status NCT02804360 Phase 2
16 Prevention of HIV Shedding in Women - Trial of Vitamin A Completed NCT00053612 Phase 2 Vitamin A
17 Vitamin A Equivalence of Carotenoids From Cassava in Women Completed NCT01381276 Phase 2
19 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
20 Vitamin A Supplementation of Breast Feeding Mothers and Their Neonates at Delivery: Impact on Mother to Child Transmission of HIV During Lactation, HIV Infection Among Women During the Postpartum Year, and Infant Mortality. Active, not recruiting NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
21 Phase I Study in the Safety and Efficacy of Transduced Keratinocytes for Possible Treatment of Gyrate Atrophy Completed NCT00001735 Phase 1
22 A Phase I Study of NT-501-10 and NT-501-6A.02, Implants of Encapsulated Human NTC-210 Cells Releasing Ciliary Neurotrophic Factor (CNTF), in Patients With Retinitis Pigmentosa Completed NCT00063765 Phase 1 Ciliary Neurotrophic Factor Implant NT-501
23 A Prospective Study to Determine Long Term Impact of Bariatric Surgery on Metabolic, Nutritional and Quality of Life Status: PART 2 Unknown status NCT02813707
24 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
25 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622
26 Development of 13C-Retinol Isotope Dilution Techniques Completed NCT04123210
27 Effect of Daily Consumption of β-carotene Biofortified Maize on Milk Retinol Concentration in Lactating Zambian Women Completed NCT01922713
28 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534
29 Estimating Dietary Vitamin A Requirement in Chinese Children by Stable-isotope Dilution Technique Completed NCT01559766
30 Vitamin A in Sickle Cell Disease: Improving Sub-optimal Status With Supplementation Completed NCT03632876
31 Effects of Environmental Enteric Dysfunction (EED) on Zinc (Zn) Absorption and Retention in Young Children: Study 1 - Absorption of Zn and Vitamin A From a Standard Dose Completed NCT02760095 3 mg zinc sulfate supplement;0.5 mg of 13C10-retinyl-acetate
32 Impact of Daily Feeding of Food Sources of Cryptoxanthin (CX) and Beta-carotene (BC) on Plasma and Breast Milk Concentrations of CX, BC, and Retinol (VA) in Lactating Women With Marginal Vitamin A Status Completed NCT01420406
33 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT03383744
34 Effect of SNPs in the Beta-carotene 15, 15'-Monooxygenase (BCMO1) Enzyme on Retinol Formation and Beta-carotene Plasma Responses Completed NCT02276014
35 An Efficacy Trial of Fe, Zn and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
36 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222
37 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
38 The Diagnosis, Pathogenesis and Treatment of Gyrate Atrophy of the Choroid and Retina Completed NCT00001166
39 Beta-carotene Absorption and Bioconversion to Vitamin A in a Biofortified Cassava Gari Meal and a White Cassava Gari Meal With Added Red Palm Oil Completed NCT02210507
40 Assessing Model Parameters for Applying the Retinol Isotope Dilution (RID) Method in Preschool Nigerian Children Living in an Area With a High Malaria Burden Completed NCT02996513
41 Efficacy of Daily Consumption of Sweet Potatoes for Increasing Total Body Vitamin A Pool Size, and the Effect of Consumption of Sweet Potatoes on Iron and Zinc Absorption in Bangladeshi Women of Reproductive Age Completed NCT00453648
42 Efficacy of Vitamin A in Fortified Extruded Rice in School Children in Satun, Thailand Completed NCT01199445 Early Phase 1
43 Efficacy of Yellow Cassava to Improve Vitamin A Status of Mildly Deficient Primary School Children in Kenya: a Randomized Controlled Trial Completed NCT01614483
44 Natural History and Genetic Studies of Usher Syndrome Completed NCT00106743
45 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
46 Color Vision as an Outcome Measure for Clinical Trials of Inherited Retinal Degenerations Completed NCT01878032
47 Newborn Vitamin A Supplementation, Gut Microbiota and Vaccine Response During the Second Year of Life in Bangladeshi Infants Completed NCT02027610
48 Study of the Correlation Between Macular Thickness Analyzed by Optical Coherence Tomography and the Visual Functions in Retinitis Pigmemtosa Completed NCT00784901
49 Evaluation of the Effectiveness of Vitamin A Supplementation (VAS) as Part of a Neonatal Post Partum Care Package in Rural Pakistan Completed NCT00674089
50 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972

Search NIH Clinical Center for Night Blindness

Inferred drug relations via UMLS 71 / NDF-RT 50 :

Cod Liver Oil
retinol acetate
retinyl palmitate
Vitamin A

Cochrane evidence based reviews: night blindness

Genetic Tests for Night Blindness

Anatomical Context for Night Blindness

MalaCards organs/tissues related to Night Blindness:

Eye, Retina, Liver, Breast, Testes, Lung, Colon

Publications for Night Blindness

Articles related to Night Blindness:

(show top 50) (show all 1442)
# Title Authors PMID Year
Chapter 29: historical aspects of the major neurological vitamin deficiency disorders: overview and fat-soluble vitamin A. 54 61
19892132 2010
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. 54 61
20238058 2010
Mutations in NYX of individuals with high myopia, but without night blindness. 54 61
17392683 2007
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 54 61
17070587 2007
Arrestin can act as a regulator of rhodopsin photochemistry. 54 61
17069872 2006
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 54 61
17011878 2006
Phototransduction in a transgenic mouse model of Nougaret night blindness. 54 61
16793893 2006
[GRKs and arrestins: the therapeutic pathway?]. 54 61
16687124 2006
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness. 54 61
16637847 2006
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. 54 61
16565402 2006
Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. 54 61
15905181 2005
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 54 61
15302662 2004
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. 54 61
12906118 2003
Characterization of rhodopsin congenital night blindness mutant T94I. 54 61
12590588 2003
Slow binding of retinal to rhodopsin mutants G90D and T94D. 54 61
12590587 2003
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 54 61
11675386 2001
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. 54 61
11581222 2001
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. 54 61
11053295 2000
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. 54 61
11078833 2000
Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. 54 61
10702259 2000
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) 54 61
10549660 1999
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 54 61
10369264 1999
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 54 61
9501174 1998
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. 54 61
9501883 1998
Normal S cone electroretinogram b-wave in Oguchi's disease. 54 61
9497461 1997
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 54 61
8673138 1996
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 54 61
7550309 1995
Phenotype-genotype correlations in X linked retinitis pigmentosa. 54 61
1357178 1992
Tribal Odisha Eye Disease Study Report # 6. Opportunistic screening of vitamin A deficiency through School Sight Program in tribal Odisha (India). 61
31957725 2020
A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. 61
31933420 2020
Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. 61
31944634 2020
Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies. 61
32013026 2020
Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant. 61
31960909 2020
Electroretinographic abnormalities associated with pregabalin: a case report. 61
31900741 2020
LRIT3 is required for Nyctalopin expression and normal ON and OFF pathway signaling in the retina. 61
31959619 2020
Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis. 61
31292819 2019
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. 61
31826698 2019
Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. 61
31286363 2019
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. 61
31889465 2019
Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves. 61
31600486 2019
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. 61
31864384 2019
Clinical vitamin-A deficiency and associated factors among pregnant and lactating women in Northwest Ethiopia: a community-based cross-sectional study. 61
31852468 2019
Two cases of unilateral cone-rod dysfunction with negative electroretinograms. 61
31375969 2019
[Multimodal diagnostic of CSNB1 with NYX gene mutation]. 61
30980176 2019
Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co-segregating deleterious GRM6 variants identified by next-generation sequencing. 61
31677249 2019
Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. 61
31257036 2019
Diagnosis of night blindness through standardized interview and electroretinography. 61
31746623 2019
Melanoma-associated retinopathy. 61
31742740 2019
Comparison between the enzymatic activity, structure and substrate binding of mouse and human lecithin retinol acyltransferase. 61
31561851 2019
Macular sensitivity in patients with congenital stationary night-blindness. 61
30573500 2019

Variations for Night Blindness

Copy number variations for Night Blindness from CNVD:

# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 175785 3 44200000 50600000 Gain or loss GNAT1 Night blindness

Expression for Night Blindness

Search GEO for disease gene expression data for Night Blindness.

Pathways for Night Blindness

GO Terms for Night Blindness

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 SAG RPGR RHO LRIT3 GRM6 GRK1
2 cell body GO:0044297 9.54 RPE65 RDH5 GNB3
3 photoreceptor inner segment GO:0001917 9.5 SAG RHO GNAT1
4 photoreceptor outer segment membrane GO:0042622 9.4 RHO GNAT1
5 photoreceptor disc membrane GO:0097381 9.35 RHO PDE6B GRK1 GNAT1 ABCA4
6 photoreceptor outer segment GO:0001750 9.17 SAG RPGR RHO GRK1 GNAT1 CACNA1F
7 new growing cell tip GO:0035841 9.16 TRPM1 GRM6

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 TRPM1 SAG RHO PDE6B NR2E3 GRM6
2 retinoid metabolic process GO:0001523 9.83 RPE65 RHO RDH5 RBP3 ABCA4
3 response to stimulus GO:0050896 9.83 TRPM1 SLC24A1 RPGR RPE65 RHO RDH5
4 calcium ion transmembrane transport GO:0070588 9.76 TRPM1 SLC24A1 CACNA1F
5 phototransduction GO:0007602 9.76 RHO NR2E3 GNAT1 CABP4
6 retina development in camera-type eye GO:0060041 9.73 RPE65 RHO PDE6B NR2E3 GRM6 GNAT1
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.72 SAG RHO PDE6B GRK1 GNAT1
8 detection of light stimulus involved in visual perception GO:0050908 9.71 RPE65 GRM6 GNAT1 CACNA1F
9 response to light stimulus GO:0009416 9.67 RPE65 RHO GNAT1
10 phototransduction, visible light GO:0007603 9.67 RHO PDE6B GNAT1 ABCA4
11 eye photoreceptor cell development GO:0042462 9.58 NR2E3 GNAT1
12 visual perception GO:0007601 9.58 TRPM1 SLC24A1 RPGR RPE65 RHO RDH5
13 G protein-coupled glutamate receptor signaling pathway GO:0007216 9.57 TRPM1 GRM6
14 cellular response to light stimulus GO:0071482 9.56 TRPM1 RHO
15 cellular response to electrical stimulus GO:0071257 9.55 RPE65 GNAT1
16 rhodopsin mediated signaling pathway GO:0016056 9.55 SAG RHO PDE6B GRK1 GNAT1
17 sensory perception of light stimulus GO:0050953 9.54 RHO GRM6
18 response to light intensity GO:0009642 9.52 SLC24A1 GNAT1
19 detection of light stimulus GO:0009583 9.51 RHO PDE6B

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

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 8.8 TRPM1 SLC24A1 CACNA1F

Sources for Night Blindness

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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