Night Blindness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: NGH001 MIFTS: 47	Night Blindness Categories: Eye diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Night Blindness

MalaCards integrated aliases for Night Blindness:

Name: Night Blindness ¹² ⁷⁴ ⁵⁴ ⁴³ ¹⁵ ⁷¹ ³²

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the eye and adnexa

Visual disturbances and blindness

Visual disturbances

Night blindness

External Ids:

Disease Ontology ¹² DOID:8499

ICD9CM ³⁴ 368.6 368.60

MeSH ⁴³ D009755

NCIt ⁴⁹ C34850 C37997

SNOMED-CT ⁶⁷ 65194006 75390007

ICD10 ³² H53.6 H53.60

UMLS ⁷¹ C0028077

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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...

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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:

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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:

²⁶

#	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:

⁴⁵

#	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

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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

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

Angiogenesis Inhibitors

Phase 4

Autonomic Agents

Phase 4

Antiemetics

Phase 4

Epinephryl borate

Phase 4

Gastrointestinal Agents

Phase 4

Methylprednisolone Acetate

Phase 4

Hormone Antagonists

Phase 4

Neuroprotective Agents

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Anti-Inflammatory Agents

Phase 4

glucocorticoids

Phase 4

Hormones

Phase 4

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

Tocotrienol

Investigational

Phase 3

6829-55-6

Tin Fluorides

Phase 2, Phase 3

Vaccines

Phase 2, Phase 3

Tocopherols

Phase 3

Tocotrienols

Phase 3

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

HIV Protease Inhibitors

Phase 2

protease inhibitors

Phase 2

BB 1101

Phase 2

Carotenoids

Phase 2

Provitamins

Phase 2

Cassava

Phase 2

Trace Elements

Phase 2

Micronutrients

Phase 2

Antioxidants

Phase 2

Protective Agents

Phase 2

Vitamins

Phase 2

Nutrients

Phase 2

retinol

Phase 2

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
18	Phase 2 Study of VITAMIN A EQUIVALENCE OF PLANT CAROTENOIDS IN CHILDREN	Completed	NCT00680212	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

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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Anatomical Context for Night Blindness

MalaCards organs/tissues related to Night Blindness:

⁴⁰

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

Sources

Publications for Night Blindness

Articles related to Night Blindness:

(show top 50) (show all 1442)

#	Title	Authors	PMID	Year
1	Chapter 29: historical aspects of the major neurological vitamin deficiency disorders: overview and fat-soluble vitamin A. ⁵⁴ ⁶¹	Lanska DJ	19892132	2010
2	Congenital stationary night blindness in mice - a tale of two Cacna1f mutants. ⁵⁴ ⁶¹	Lodha N...Bech-Hansen NT	20238058	2010
3	Mutations in NYX of individuals with high myopia, but without night blindness. ⁵⁴ ⁶¹	Zhang Q...Hejtmancik JF	17392683	2007
4	A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. ⁵⁴ ⁶¹	Hayashi T...Kitahara K	17070587	2007
5	Arrestin can act as a regulator of rhodopsin photochemistry. ⁵⁴ ⁶¹	Sommer ME...Farrens DL	17069872	2006
6	Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. ⁵⁴ ⁶¹	Senechal A...Hamel CP	17011878	2006
7	Phototransduction in a transgenic mouse model of Nougaret night blindness. ⁵⁴ ⁶¹	Moussaif M...Artemyev NO	16793893	2006
8	[GRKs and arrestins: the therapeutic pathway?]. ⁵⁴ ⁶¹	Metaye T...Kraimps JL	16687124	2006
9	Compound heterozygous RDH5 mutations in familial fleck retina with night blindness. ⁵⁴ ⁶¹	Hayashi T...Kitahara K	16637847	2006
10	Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. ⁵⁴ ⁶¹	Neidhardt J...Berger W	16565402	2006
11	Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein. ⁵⁴ ⁶¹	O'Connor E...Trump D	15905181	2005
12	Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. ⁵⁴ ⁶¹	Nakamura M...Miyake Y	15302662	2004
13	RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. ⁵⁴ ⁶¹	Nakamura M...Miyake Y	12906118	2003
14	Characterization of rhodopsin congenital night blindness mutant T94I. ⁵⁴ ⁶¹	Gross AK...Oprian DD	12590588	2003
15	Slow binding of retinal to rhodopsin mutants G90D and T94D. ⁵⁴ ⁶¹	Gross AK...Oprian DD	12590587	2003
16	Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. ⁵⁴ ⁶¹	Liden M...Eriksson U	11675386	2001
17	Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene. ⁵⁴ ⁶¹	Scholl HP...Apfelstedt-Sylla E	11581222	2001
18	A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. ⁵⁴ ⁶¹	Nakamura M...Miyake Y	11053295	2000
19	Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. ⁵⁴ ⁶¹	Dryja TP	11078833	2000
20	Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness. ⁵⁴ ⁶¹	Muradov KG...Artemyev NO	10702259	2000
21	Increased susceptibility to light damage in an arrestin knockout mouse model of Oguchi disease (stationary night blindness) ⁵⁴ ⁶¹	Chen J...LaVail MM	10549660	1999
22	Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. ⁵⁴ ⁶¹	Yamamoto H...Dryja TP	10369264	1999
23	Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness. ⁵⁴ ⁶¹	Khani SC...Vogt TM	9501174	1998
24	Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. ⁵⁴ ⁶¹	Sippel KC...Dryja TP	9501883	1998
25	Normal S cone electroretinogram b-wave in Oguchi's disease. ⁵⁴ ⁶¹	Yamamoto S...Kawasaki K	9497461	1997
26	Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. ⁵⁴ ⁶¹	Dryja TP...Arnaud B	8673138	1996
27	Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. ⁵⁴ ⁶¹	Jacobson SG...Stone EM	7550309	1995
28	Phenotype-genotype correlations in X linked retinitis pigmentosa. ⁵⁴ ⁶¹	Kaplan J...Lefrancois P	1357178	1992
29	Tribal Odisha Eye Disease Study Report # 6. Opportunistic screening of vitamin A deficiency through School Sight Program in tribal Odisha (India). ⁶¹	Panda L...Das T	31957725	2020
30	A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. ⁶¹	Khan R...Xia K	31933420	2020
31	Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations. ⁶¹	Sun Y...Chen F	31944634	2020
32	Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies. ⁶¹	Birtel J...Herrmann P	32013026	2020
33	Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant. ⁶¹	Colozo AT...Park PSH	31960909	2020
34	Electroretinographic abnormalities associated with pregabalin: a case report. ⁶¹	Ninomiya W...Nakano T	31900741	2020
35	LRIT3 is required for Nyctalopin expression and normal ON and OFF pathway signaling in the retina. ⁶¹	Hasan N...Gregg RG	31959619	2020
36	Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis. ⁶¹	Bazvand F...Zarei M	31292819	2019
37	Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. ⁶¹	Ivanova ME...Barh D	31826698	2019
38	Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration. ⁶¹	Tsunoda K...Iwata T	31286363	2019
39	Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease. ⁶¹	Wang P...Yang D	31889465	2019
40	Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves. ⁶¹	Akula JD...Fulton AB	31600486	2019
41	Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians. ⁶¹	Suppiej A...Falsaperla R	31864384	2019
42	Clinical vitamin-A deficiency and associated factors among pregnant and lactating women in Northwest Ethiopia: a community-based cross-sectional study. ⁶¹	Baytekus A...Debie A	31852468	2019
43	Two cases of unilateral cone-rod dysfunction with negative electroretinograms. ⁶¹	Ozawa K...Miyake Y	31375969	2019
44	[Multimodal diagnostic of CSNB1 with NYX gene mutation]. ⁶¹	Rating P...Bechrakis NE	30980176	2019
45	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	Liu HY...Wang ZY	31677249	2019
46	Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study. ⁶¹	Nishiguchi KM...Abe T	31257036	2019
47	Diagnosis of night blindness through standardized interview and electroretinography. ⁶¹	Pereira S...Ramalho A	31746623	2019
48	Melanoma-associated retinopathy. ⁶¹	Elsheikh S...Burdon MA	31742740	2019
49	Comparison between the enzymatic activity, structure and substrate binding of mouse and human lecithin retinol acyltransferase. ⁶¹	Gauthier ME...Salesse C	31561851	2019
50	Macular sensitivity in patients with congenital stationary night-blindness. ⁶¹	William A...Schatz A	30573500	2019

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Genes for Night Blindness

Genes related to Night Blindness (0 elite genes):

(show all 32)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDE6B	Phosphodiesterase 6B	Protein Coding	65.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	11078833
2	NYX	Nyctalopin	Protein Coding	59.17	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17392683 11581222 15905181
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	58.91	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11078833 20238058
4	RHO	Rhodopsin	Protein Coding	58.34	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11078833 16565402 12590588 (more) 8673138 16687124 19892132 12590587
5	GRK1	G Protein-Coupled Receptor Kinase 1	Protein Coding	54.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11078833 10549660 9501174 (more) 16687124
6	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	48.43	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	GPR179	G Protein-Coupled Receptor 179	Protein Coding	48.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	CABP4	Calcium Binding Protein 4	Protein Coding	47.62	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
9	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	47.04	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
10	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	46.84	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	LRIT3	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3	Protein Coding	46.62	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	46.41	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	RDH5	Retinol Dehydrogenase 5	Protein Coding	44.67	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	16637847 11078833 11675386 (more) 12906118 15302662 10369264 18949499 11053295
14	SAG	S-Antigen Visual Arrestin	Protein Coding	42.96	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	10549660 11078833 9497461 (more) 9501883 17070587 17069872
15	GNB3	G Protein Subunit Beta 3	Protein Coding	31.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	31.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Publications (show sections)	17011878
17	RPGR	Retinitis Pigmentosa GTPase Regulator	Protein Coding	24.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	1357178
18	NR2E3	Nuclear Receptor Subfamily 2 Group E Member 3	Protein Coding	23.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders (show sections)	19139342
19	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	23.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
20	RBP3	Retinol Binding Protein 3	Protein Coding	21.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
21	RBP4	Retinol Binding Protein 4	Protein Coding	21.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
22	TIMP3	TIMP Metallopeptidase Inhibitor 3	Protein Coding	19.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	7550309
23	GNAZ	G Protein Subunit Alpha Z	Protein Coding	15.58	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	10702259 16793893
24	RLBP1	Retinaldehyde Binding Protein 1	Protein Coding	15.29	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
25	USH2A	Usherin	Protein Coding	15.04	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
26	NRL	Neural Retina Leucine Zipper	Protein Coding	14.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
27	PRPH2	Peripherin 2	Protein Coding	14.83	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
28	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	14.66	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
29	CHM	CHM Rab Escort Protein	Protein Coding	14.6	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
30	CERKL	Ceramide Kinase Like	Protein Coding	14.29	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
31	LRAT	Lecithin Retinol Acyltransferase	Protein Coding	14.28	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17011878
32	CYP4V2	Cytochrome P450 Family 4 Subfamily V Member 2	Protein Coding	14.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)

Sources

Variations for Night Blindness

Copy number variations for Night Blindness from CNVD:

⁷

#	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

Search GEO for disease gene expression data for Night Blindness.

Sources

Pathways for Night Blindness

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

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	13.8	SLC24A1 SAG RPE65 RHO RDH5 RBP3
2	Phototransduction ³⁶ Show member pathways Activation of the phototransduction cascade ⁶⁵ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁵ The phototransduction cascade ⁶⁵ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	12	SLC24A1 SAG RPE65 RHO RDH5 PDE6B
3	Metabolism of fat-soluble vitamins ⁶⁵ Show member pathways Metabolism of vitamin K ⁶⁵ Retinoid metabolism and transport ⁶⁵ The retinoid cycle in cones (daylight vision) ⁶⁵ Visual phototransduction ⁶⁵ Vitamin D (calciferol) metabolism ⁶⁵	11.99	SLC24A1 SAG RPE65 RHO RDH5 RBP3
4	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁵	11.4	RPE65 RHO RDH5 RBP3 ABCA4
5	Visual Cycle in Retinal Rods ⁶³	11.3	SLC24A1 SAG RPE65 RHO RDH5 RBP3

Sources

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

Sources for Night Blindness

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Night Blindness

Aliases & Classifications for Night Blindness

MalaCards integrated aliases for Night Blindness:

Classifications:

External Ids:

Summaries for Night Blindness

Related Diseases for Night Blindness

Diseases in the Night Blindness family:

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

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

Symptoms & Phenotypes for Night Blindness

UMLS symptoms related to Night Blindness:

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

MGI Mouse Phenotypes related to Night Blindness:

Drugs & Therapeutics for Night Blindness

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

Interventional clinical trials:

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

Cochrane evidence based reviews: night blindness

Genetic Tests for Night Blindness

Anatomical Context for Night Blindness

MalaCards organs/tissues related to Night Blindness:

Publications for Night Blindness

Articles related to Night Blindness:

Genes for Night Blindness

Genes related to Night Blindness (0 elite genes):

Variations for Night Blindness

Copy number variations for Night Blindness from CNVD:

Expression for Night Blindness

Pathways for Night Blindness

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

GO Terms for Night Blindness

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

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

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

Sources for Night Blindness

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