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MIFTS: 52

Night Blindness

Categories: Eye diseases, Metabolic diseases, Neuronal diseases
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Aliases & Classifications for Night Blindness

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MalaCards integrated aliases for Night Blindness:

Name: Night Blindness 11 75 28 53 5 43 14 71 31
Nyctalopia 11 75
Night-Blindness 75

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 31


External Ids:

Disease Ontology 11 DOID:8499
ICD9CM 34 368.6
MeSH 43 D009755
NCIt 49 C34850
SNOMED-CT 68 75390007
ICD10 31 H53.6
UMLS 71 C0028077
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Summaries for Night Blindness

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Disease Ontology: 11 A retinal disease that is characterized by difficulty or the inability to see in relatively low light.

MalaCards based summary: Night Blindness, also known as nyctalopia, is related to x-linked congenital stationary night blindness and night blindness, congenital stationary, type 1a, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness is RHO (Rhodopsin), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. The drugs Racepinephrine and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and retina, and related phenotypes are nervous system and pigmentation

Wikipedia: 75 Nyctalopia (/ˌnɪktəˈloʊpiə/; from Ancient Greek νύκτ- (núkt-) 'night', ἀλαός (alaós) 'blind, invisible',... more...
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Related Diseases for Night Blindness

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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 Suite gene sharing:

(show top 50) (show all 303)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 33.6 NYX CACNA1F
2 night blindness, congenital stationary, type 1a 33.4 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
3 night blindness, congenital stationary, type 1e 33.4 NYX GPR179 CACNA1F
4 night blindness, congenital stationary, type 2a 33.3 NYX CACNA1F
5 night blindness, congenital stationary, type 1b 33.3 TRPM1 NYX LRIT3 GRM6 GPR179 CABP4
6 night blindness, congenital stationary, autosomal dominant 1 33.3 RHO GNAT1 CACNA1F
7 night blindness, congenital stationary, type 1c 33.2 TRPM1 NYX GPR179 CACNA1F CABP4
8 autosomal dominant congenital stationary night blindness 33.1 PDE6B GNAT1
9 oguchi disease 2 33.1 SAG RHO GRK1 CABP4
10 oguchi disease 1 33.1 SAG RHO GRK1 CABP4
11 oguchi disease 33.0 SAG RHO RDH5 NYX GRK1 CACNA1F
12 congenital stationary night blindness 32.8 TRPM1 SLC24A1 SAG RHO RDH5 PDE6B
13 enhanced s-cone syndrome 32.6 RHO NR2E3 GRK1
14 choroideremia 32.5 RHO CHM CEP290
15 fundus albipunctatus 32.4 RHO RDH5 PDE6B NYX NR2E3 LRIT3
16 late-onset retinal degeneration 32.2 RHO PDE6B NR2E3 EFEMP1 CEP290
17 retinitis pigmentosa 2 32.1 RHO GRK1 CEP290
18 usher syndrome type 2 31.9 RHO PDE6B NR2E3 GRK1 CEP290
19 leber congenital amaurosis 2 31.9 RHO CEP290
20 usher syndrome 31.7 WFS1 RHO PDE6B NR2E3 GRK1 CHM
21 cone-rod dystrophy 2 31.7 TRPM1 SLC24A1 SAG RHO RDH5 PDE6B
22 usher syndrome, type i 31.6 RHO PDE6B CEP290
23 myopia 31.6 TRPM1 SLC24A1 RHO RDH5 PDE6B NYX
24 retinal disease 31.5 RHO PDE6B NR2E3 CEP290 CACNA1F
25 retinitis pigmentosa 31.5 WFS1 TRPM1 SLC24A1 SAG RHO RDH5
26 aland island eye disease 31.2 NYX CACNA1F CABP4
27 progressive cone dystrophy 31.0 RDH5 PDE6B CACNA1F
28 retinal degeneration 30.9 SAG RHO RDH5 PDE6B NR2E3 GRK1
29 refractive error 30.9 RHO RDH5 NYX GRM6 GPR179 CHN1
30 color blindness 30.8 RHO PDE6B NR2E3 GRK1 CEP290 CACNA1F
31 cone-rod dystrophy, x-linked, 3 30.7 NYX GRM6 CACNA1F CABP4
32 eye disease 30.6 TRPM1 SAG RHO RDH5 PDE6B NYX
33 cone dystrophy 30.6 SAG RHO RDH5 PDE6B NYX NR2E3
34 achromatopsia 30.5 RHO PDE6B NYX NR2E3 GRK1 CHM
35 macular degeneration, age-related, 1 30.5 RHO RDH5 PDE6B NR2E3 GRK1 EFEMP1
36 retinitis pigmentosa 4 30.5 RHO GNAT1
37 retinoschisis 1, x-linked, juvenile 30.4 TRPM1 RHO PDE6B NYX NR2E3 GRM6
38 cone-rod dystrophy 3 30.3 CACNA1F CABP4
39 sorsby fundus dystrophy 30.3 RHO EFEMP1 CHM
40 strabismic amblyopia 30.3 GRM6 CHN1
41 fundus dystrophy 30.3 TRPM1 SLC24A1 SAG RHO RDH5 PDE6B
42 optic disk drusen 30.2 RHO EFEMP1
43 hereditary retinal dystrophy 30.1 RHO CEP290
44 stargardt disease 30.0 RHO RDH5 PDE6B NR2E3 GRK1 EFEMP1
45 leber plus disease 29.9 WFS1 TRPM1 SLC24A1 SAG RHO RDH5
46 night blindness, congenital stationary, type 1h 11.8
47 night blindness, congenital stationary, type 1d 11.8
48 night blindness, congenital stationary, autosomal dominant 2 11.8
49 night blindness, congenital stationary, autosomal dominant 3 11.8
50 night blindness, congenital stationary, type 1f 11.8

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



Diseases related to Night Blindness
Sources

Symptoms & Phenotypes for Night Blindness

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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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 CABP4 CACNA1F CEP290 CHM CHN1 EFEMP1
2 no effect GR00402-S-2 10.18 CABP4 CACNA1F CEP290 CHM CHN1 EFEMP1

MGI Mouse Phenotypes related to Night Blindness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.8 CABP4 CACNA1F CEP290 CHM CHN1 GNAT1
2 pigmentation MP:0001186 9.63 CEP290 CHM EFEMP1 GNAT1 PDE6B RHO
3 vision/eye MP:0005391 9.6 CABP4 CACNA1F CEP290 CHM CHN1 EFEMP1
Sources

Drugs & Therapeutics for Night Blindness

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
7
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
8 Protective Agents Phase 4
9 Epinephryl borate Phase 4
10 Antineoplastic Agents, Hormonal Phase 4
11 Neuroprotective Agents Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Antiemetics Phase 4
15 glucocorticoids Phase 4
16 Anti-Inflammatory Agents Phase 4
17
Methylprednisolone Acetate Phase 4 584547
18 Gastrointestinal Agents Phase 4
19
Tocopherol Approved, Investigational Phase 2, Phase 3 1406-66-2
20 Orange Approved Phase 3
21
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 3 67-97-0, 1406-16-2 5280795 10883523
22
Beta carotene Approved, Nutraceutical Phase 3 6811-73-0, 7235-40-7 10256668 5280489
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
24
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9, 10191-41-0 2116 14985
25
Tocotrienol Investigational Phase 2, Phase 3 6829-55-6 9929901
26 Calciferol Phase 3
27 Carotenoids Phase 3
28 Vitamins Phase 3
29 Trace Elements Phase 3
30 Micronutrients Phase 3
31 Retinol palmitate Phase 3
32 Tocotrienols Phase 2, Phase 3
33 Tocopherols Phase 2, Phase 3
34 Provitamins Phase 3
35 Antioxidants Phase 2, Phase 3
36 Vaccines Phase 2, Phase 3
37 Tin Fluorides Phase 2, Phase 3
38 Soy Bean Phase 3
39 Cassava Phase 2
40
Lactulose Approved 4618-18-2 11333
41
Acetic acid Approved 64-19-7 176
42
Zinc sulfate Approved, Investigational 7733-02-0
43
Sorbitol Approved, Investigational 69-65-8, 50-70-4 453 6251 5780
44
BCG vaccine Approved, Investigational
45 Tangerine Approved
46
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
47
Tannic acid Approved 1401-55-4 16129878 16129778
48
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
49
Iron Approved 7439-89-6 29936
50
Levoleucovorin Approved, Experimental, Investigational 68538-85-2, 58-05-9, 73951-54-9 149436 6006

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 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
2 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants Unknown status NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
3 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit? Completed NCT02043223 Phase 2, Phase 3
4 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
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 A Randomized Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Completed NCT00128557 Phase 3
7 Randomised Double-blind Placebo-controlled Trial to Evaluate the Impact of Vitamin A on Maternal Mortality in Ghana Completed NCT00211341 Phase 3
8 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
9 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
10 A Randomized Controlled Trial in Human Neonates to Determine the Effect of Vitamin A Supplementation on Immune Responses Unknown status NCT01476358 Phase 2
11 Phase 2 Study of VITAMIN A EQUIVALENCE OF PLANT CAROTENOIDS IN CHILDREN Completed NCT00680212 Phase 2
12 Prevention of HIV Shedding in Women - Trial of Vitamin A Completed NCT00053612 Phase 2 Vitamin A
13 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. Completed NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
14 Vitamin A Equivalence of Carotenoids From Cassava in Women Completed NCT01381276 Phase 2
15 Effect Of Delivering Micronutrients Through Multiple Biofortified Food Crops On Nutritional Status And Immune Function: A Feeding Trial In The First 1000 Days Of Life In India Unknown status NCT02648893
16 The Assessment of Sub-Regional Micronutrient Deficiencies in Ethiopia to Target Bio Fortification. Unknown status NCT03353662
17 Determination of Relative Bioavailability, Bioconversion and Bioefficacy of β-cryptoxanthin in Comparison to β-carotene From Biofortified Maize and External Stable Isotopes Using Compartmental Modelling Unknown status NCT04153968
18 The Effect of Biscuits Containing Red Palm Oil on School Children With Vitamin A Deficiency in West and East Malaysia Unknown status NCT03256123
19 Niveles de Retinol Hepatico y óseo en cadáveres de Adolescentes y Adultos Guatemaltecos (Liver and Bone Retinol Levels in Guatemalan Adolescents and Adults) Unknown status NCT04438200
20 The Correlation Between Vitamin A / E Levels and Preeclampsia. Unknown status NCT03971604 Vitamin A;Vitamin E
21 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534
22 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
23 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
24 Evaluation of the Effectiveness of Vitamin A Supplementation (VAS) as Part of a Neonatal Post Partum Care Package in Rural Pakistan Completed NCT00674089
25 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
26 A Pilot Study to Evaluate the Nutritional Status of Women and Children in Northern Ghana, and Knowledge, Attitudes and Practices Related to Bouillon Cube Use Completed NCT04632771
27 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222
28 Effect of SNPs in the Beta-carotene 15, 15'-Monooxygenase (BCMO1) Enzyme on Retinol Formation and Beta-carotene Plasma Responses Completed NCT02276014
29 The Effect of Retinol and RBP Levels of Cord Blood and Mothers on Mortality and Morbidity in Prematures With 30 Weeks and Lower Completed NCT04780958
30 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622
31 Effects of Intermittent Iron and Vitamin A Supplementation on Nutritional Status and Development of Schoolchildren in Arba Minch Zuria District, Ethiopia. Completed NCT04137354
32 Newborn Vitamin A Supplementation, Gut Microbiota and Vaccine Response During the Second Year of Life in Bangladeshi Infants Completed NCT02027610
33 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
34 Development of 13C-Retinol Isotope Dilution Techniques Completed NCT04123210
35 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
36 Effect of Daily Consumption of β-carotene Biofortified Maize on Milk Retinol Concentration in Lactating Zambian Women Completed NCT01922713
37 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
38 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
39 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection in Ethiopia Completed NCT02363985
40 Vitamin A in Sickle Cell Disease: Improving Sub-optimal Status With Supplementation Completed NCT03632876
41 An Efficacy Trial of Fe, Zn and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
42 Effect of an Individualized Dietary Intervention on the Body Composition and Vitamin A Status of Breastfeeding Women Completed NCT03640104
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 Comparison of Different Refraction Measurements in Adults Completed NCT04434521
45 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT03383744
46 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972
47 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
48 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
49 Efficacy of Vitamin A in Fortified Extruded Rice in School Children in Satun, Thailand Completed NCT01199445 Early Phase 1
50 Estimating Dietary Vitamin A Requirement in Chinese Children by Stable-isotope Dilution Technique Completed NCT01559766

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
VITAMIN A (AS ACETATE & BETA CAROTENE)
VITAMIN A (AS PALMITATE & BETA CAROTENE)
VITAMIN A (NATURAL)
VITAMIN A PALMITATE (SOLUBILIZED)

Cochrane evidence based reviews: night blindness

Sources

Genetic Tests for Night Blindness

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Genetic tests related to Night Blindness:

# Genetic test Affiliating Genes
1 Night Blindness 28
Sources

Anatomical Context for Night Blindness

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Organs/tissues related to Night Blindness:

MalaCards : Eye, Liver, Retina, Breast, Bone, Prostate, Skeletal Muscle
Sources

Publications for Night Blindness

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Articles related to Night Blindness:

(show top 50) (show all 1948)
# Title Authors PMID Year
1
Chapter 29: historical aspects of the major neurological vitamin deficiency disorders: overview and fat-soluble vitamin A. 53 62
19892132 2010
2
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. 53 62
20238058 2010
3
Diagnosis in a patient with fundus albipunctatus and atypical fundus changes. 53 62
18949499 2009
4
Phenotypic features of patients with NR2E3 mutations. 53 62
19139342 2009
5
Mutations in NYX of individuals with high myopia, but without night blindness. 53 62
17392683 2007
6
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. 53 62
17070587 2007
7
Arrestin can act as a regulator of rhodopsin photochemistry. 53 62
17069872 2006
8
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. 53 62
17011878 2006
9
Phototransduction in a transgenic mouse model of Nougaret night blindness. 53 62
16793893 2006
10
[GRKs and arrestins: the therapeutic pathway?]. 53 62
16687124 2006
11
Compound heterozygous RDH5 mutations in familial fleck retina with night blindness. 53 62
16637847 2006
12
Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. 53 62
16565402 2006
13
Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. 53 62
15905181 2005
14
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 53 62
15302662 2004
15
RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. 53 62
12906118 2003
16
Characterization of rhodopsin congenital night blindness mutant T94I. 53 62
12590588 2003
17
Slow binding of retinal to rhodopsin mutants G90D and T94D. 53 62
12590587 2003
18
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. 53 62
11675386 2001
19
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. 53 62
11581222 2001
20
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. 53 62
11053295 2000
21
Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. 53 62
11078833 2000
22
Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. 53 62
10702259 2000
23
Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) 53 62
10549660 1999
24
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 53 62
10369264 1999
25
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. 53 62
9501883 1998
26
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. 53 62
9501174 1998
27
Normal S cone electroretinogram b-wave in Oguchi's disease. 53 62
9497461 1997
28
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. 53 62
8673138 1996
29
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. 53 62
7550309 1995
30
Phenotype-genotype correlations in X linked retinitis pigmentosa. 53 62
1357178 1992
31
Optical Coherence Tomography (OCT) Diagnostic of Retinitis Pigmentosa - Case Study. 62
36467319 2022
32
Insidious progression of atrophic lesions in a case of posterior polar annular choroidal dystrophy. 62
36177298 2022
33
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. 62
36469668 2022
34
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. 62
36191840 2022
35
RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History. 62
36423731 2022
36
Vitamin A retinopathy secondary to Billroth II anastomosis triggered after the beginning of dialysis. 62
34154441 2022
37
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration. 62
36330599 2022
38
Visual snow: A systematic review and a case series. 62
35945691 2022
39
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early onset recessive rod-cone degeneration. 62
36376065 2022
40
Genetic analysis and clinical features of three Chinese patients with Oguchi disease. 62
36417138 2022
41
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study. 62
34162253 2022
42
TRIPLE THERAPY WITH RITUXIMAB, INTRAVENOUS IMMUNOGLOBULIN, AND INTRAVITREAL CORTICOSTEROIDS FOR MELANOMA-ASSOCIATED RETINOPATHY: TTRIIC DOES THE TRICK. 62
33165302 2022
43
Visceral and body adiposity are negatively associated with vitamin A nutritional status independently of Body Mass Index and recommended intake of vitamin A in Brazilian Women. 62
35934273 2022
44
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness. 62
36226416 2022
45
Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells. 62
36264558 2022
46
Factors affecting the fate of β-carotene in the human gastrointestinal tract: A narrative review. 62
32781911 2022
47
A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes. 62
35947237 2022
48
RBP4-related eye disease in a Danish family with retinitis pigmentosa and congenital ocular malformations. 62
36317196 2022
49
Generation of a gene-corrected human iPSC line (CSUASOi004-A-1) from a retinitis pigmentosa patient with heterozygous c.2699 G>A mutation in the PRPF6 gene. 62
36103774 2022
50
Documentation of recovery from vitamin A deficiency-related retinopathy via multimodal imaging and electroretinogram testing. 62
35896849 2022
Sources

Variations for Night Blindness

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ClinVar genetic disease variations for Night Blindness:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RHO NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) SNV Pathogenic
 13014 rs29001566 GRCh37: 3:129252554-129252554
GRCh38: 3:129533711-129533711
2 CEP290 NM_025114.4(CEP290):c.322C>T (p.Arg108Ter) SNV Pathogenic
 654881 rs1290241933 GRCh37: 12:88530539-88530539
GRCh38: 12:88136762-88136762
3 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
4 CHM NM_000390.4(CHM):c.75_77del (p.Ala26del) DEL Likely Pathogenic
 523365 rs1555968874 GRCh37: X:85282534-85282536
GRCh38: X:86027530-86027532
5 EFEMP1 NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His) SNV Likely Pathogenic
 523395 rs1553348960 GRCh37: 2:56097986-56097986
GRCh38: 2:55870851-55870851
6 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
7 KIF1A NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247

Copy number variations for Night Blindness from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 175785 3 44200000 50600000 Gain or loss GNAT1 Night blindness
Sources

Expression for Night Blindness

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Search GEO for disease gene expression data for Night Blindness.
Sources

Pathways for Night Blindness

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

# Super pathways Score Top Affiliating Genes
1
Olfactory Signaling Pathway 66
Show member pathways
 12.85 SLC24A1 SAG RHO RDH5 PDE6B GRK1
2
Visual phototransduction 66
Show member pathways
 12.04 SLC24A1 SAG RHO RDH5 PDE6B GRK1
3
Visual Cycle in Retinal Rods 64
11.2 SLC24A1 SAG RHO RDH5 PDE6B GRK1
4
Visual signal transduction: Cones 61
10.68 RDH5 GRK1
5
15q13.3 copy number variation syndrome 74
10.51 TRPM1 GRM6
Sources

GO Terms for Night Blindness

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.8 SAG RHO GNAT1
2 photoreceptor disc membrane GO:0097381 9.76 RHO PDE6B GRK1 GNAT1
3 photoreceptor outer segment membrane GO:0042622 9.73 RHO PDE6B GNAT1
4 cell projection GO:0042995 9.65 TRPM1 SAG RHO PDE6B LRIT3 GRM6
5 photoreceptor outer segment GO:0001750 9.32 SAG RHO PDE6B GRK1 GNAT1 CACNA1F

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.34 SAG RHO PDE6B NR2E3 GRM6 GRK1
2 retina development in camera-type eye GO:0060041 9.96 GNAT1 GRM6 NR2E3 PDE6B RHO
3 calcium ion import across plasma membrane GO:0098703 9.95 TRPM1 SLC24A1 CACNA1F
4 detection of light stimulus involved in visual perception GO:0050908 9.93 CACNA1F GNAT1 GRM6
5 eye photoreceptor cell development GO:0042462 9.88 NR2E3 GNAT1 CEP290
6 phototransduction GO:0007602 9.87 RHO NR2E3 GNAT1 CABP4
7 response to stimulus GO:0050896 9.86 CACNA1F CHM GNAT1 GRK1 GRM6 LRIT3
8 phototransduction, visible light GO:0007603 9.85 RHO PDE6B GNAT1
9 visual perception GO:0007601 9.84 CABP4 CACNA1F CHM EFEMP1 GNAT1 GPR179
10 regulation of rhodopsin mediated signaling pathway GO:0022400 9.83 GRK1 GNAT1
11 response to light intensity GO:0009642 9.81 SLC24A1 GNAT1
12 rhodopsin mediated signaling pathway GO:0016056 9.76 SAG RHO GRK1 GNAT1
13 sensory perception of light stimulus GO:0050953 9.54 RHO GRM6
14 detection of light stimulus GO:0009583 9.43 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 9.02 TRPM1 SLC24A1 CACNA1F
Sources

Sources for Night Blindness

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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