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

MCID: NGH001 MIFTS: 51	Night Blindness Categories: Eye diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Download Expand all tables

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Aliases & Classifications for Night Blindness

MalaCards integrated aliases for Night Blindness:

Name: Night Blindness ¹² ⁷⁶ ⁵⁵ ⁴⁴ ¹⁵ ⁷³

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Visual disturbances and blindness

Visual disturbances

Night blindness

External Ids:

Disease Ontology ¹² DOID:8499

ICD10 ³³ H53.6 H53.60

ICD9CM ³⁵ 368.6 368.60

MeSH ⁴⁴ D009755

NCIt ⁵⁰ C34850 C37997

SNOMED-CT ⁶⁸ 155144006 193686009 193693008 more

UMLS ⁷³ 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 other specified visual disturbances, photophobia and amaurosis fugax. An important gene associated with Night Blindness is PDE6B (Phosphodiesterase 6B), and among its related pathways/superpathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. The drugs Albendazole and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and testes, and related phenotypes are nervous system and vision/eye

Wikipedia : ⁷⁶ Nyctalopia (/ˌnɪktəˈloʊpiə/ from Greek νύκτ- (nykt-), meaning \'night\', ἀλαός (alaos), meaning \'blind,... more...

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Related Diseases for Night Blindness

Diseases in the Night Blindness family:

Acquired Night Blindness

Hereditary Night Blindness

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

(show top 50) (show all 116)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked congenital stationary night blindness	34.8	CACNA1F NYX
2	night blindness, congenital stationary, type 2a	34.8	CACNA1F NYX
3	night blindness, congenital stationary, type 1a	34.5	NYX RHO
4	night blindness, congenital stationary, type 1e	34.3	CACNA1F GPR179 NYX
5	autosomal dominant congenital stationary night blindness	34.2	GNAT1 PDE6B RHO
6	night blindness, congenital stationary, type 1b	33.3	GPR179 GRM6 LRIT3 NYX TRPM1
7	autosomal recessive congenital stationary night blindness	32.8	GNAT1 GNB3 GRM6 SLC24A1
8	melanoma-associated retinopathy	31.9	RHO SAG TRPM1
9	cone-rod dystrophy 2	31.1	CACNA1F RHO RPE65
10	hereditary night blindness	30.6	CACNA1F GRK1 GRM6 NYX RDH5 RHO
11	aland island eye disease	29.6	CACNA1F NYX RPE65
12	myopia	29.4	CACNA1F GNAT1 GRM6 NYX RHO
13	retinal degeneration	29.0	PDE6B RHO RPE65 SAG
14	fundus albipunctatus	28.1	CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
15	fundus dystrophy	27.7	GRK1 PDE6B RDH5 RHO RPE65
16	retinitis pigmentosa	27.4	CACNA1F GNAT1 GRK1 NYX PDE6B RDH5
17	congenital stationary night blindness	25.1	CABP4 CACNA1F GNAT1 GNB3 GPR179 GRK1
18	night blindness, congenital stationary, type 1d	12.5
19	night blindness, congenital stationary, type 1f	12.5
20	night blindness, congenital stationary, autosomal dominant 2	12.5
21	night blindness, congenital stationary, autosomal dominant 3	12.5
22	night blindness, congenital stationary, autosomal dominant 1	12.5
23	night blindness, congenital stationary, type 1h	12.5
24	night blindness, congenital stationary, type 1c	12.4
25	night blindness, congenital stationary, type 1g	12.4
26	night blindness-skeletal anomalies-dysmorphism syndrome	12.3
27	acquired night blindness	12.2
28	oguchi disease 1	12.1
29	chondroectodermal dysplasia with night blindness	12.0
30	cone-rod synaptic disorder, congenital nonprogressive	11.9
31	oguchi disease 2	11.9
32	keratomalacia	11.8
33	retinal cone dystrophy 3a	11.7
34	retinal cone dystrophy 3b	11.7
35	choroideremia	11.4
36	refsum disease, classic	11.1
37	late-onset retinal degeneration	11.1
38	bietti crystalline corneoretinal dystrophy	11.0
39	gyrate atrophy of choroid and retina	11.0
40	enhanced s-cone syndrome	11.0
41	cone-rod dystrophy 16	11.0
42	wagner vitreoretinopathy	10.8
43	retinitis pigmentosa 9	10.8
44	leber congenital amaurosis 2	10.8
45	jalili syndrome	10.8
46	senior-loken syndrome 1	10.8
47	retinitis pigmentosa 3	10.8
48	nystagmus 1, congenital, x-linked	10.8
49	retinitis pigmentosa 2	10.8
50	birdshot chorioretinopathy	10.8

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:

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

MGI Mouse Phenotypes related to Night Blindness:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.93	CABP4 CACNA1F GNAT1 GNB3 GRK1 GRM6
2	vision/eye	MP:0005391	9.53	CABP4 CACNA1F GNAT1 GNB3 GPR179 GRK1
3	pigmentation	MP:0001186	9.26	GNAT1 PDE6B RHO RPE65

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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 90)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Albendazole

Approved, Vet_approved

Phase 4

54965-21-8

2082

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

5755

Epinephrine

Approved, Vet_approved

Phase 4

51-43-4

5816

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

6741

Racepinephrine

Approved

Phase 4

329-65-7

838

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

11103-57-4, 68-26-8

445354

glucocorticoids

Phase 4,Phase 2

Retinol palmitate

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Micronutrients

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Gastrointestinal Agents

Phase 4,Phase 2

Hormone Antagonists

Phase 4,Phase 2

Trace Elements

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Hormones

Phase 4,Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2

Peripheral Nervous System Agents

Phase 4,Phase 2

Vitamins

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Antiemetics

Phase 4,Phase 2

Antioxidants

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Protective Agents

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Anti-Inflammatory Agents

Phase 4,Phase 2

Autonomic Agents

Phase 4,Phase 2

Antineoplastic Agents, Hormonal

Phase 4,Phase 2

Prednisolone acetate

Phase 4

Methylprednisolone acetate

Phase 4

Methylprednisolone Hemisuccinate

Phase 4

Neuroprotective Agents

Phase 4

Anthelmintics

Phase 4

Epinephryl borate

Phase 4

Prednisolone hemisuccinate

Phase 4

Prednisolone phosphate

Phase 4

Anti-Infective Agents

Phase 4

Antiparasitic Agents

Phase 4

Antiprotozoal Agents

Phase 4

Antimitotic Agents

Phase 4

retinol

Nutraceutical

Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1

Iron

Approved

Phase 2, Phase 3,Phase 3,Early Phase 1,Not Applicable

7439-89-6

23925

Lutein

Approved, Investigational, Nutraceutical

Phase 2, Phase 3

127-40-2

6433159

leucovorin

Approved, Nutraceutical

Phase 3,Not Applicable

58-05-9

143 6006

Tocopherol

Approved, Investigational, Nutraceutical

Phase 2, Phase 3,Not Applicable

1406-66-2

14986

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 3,Not Applicable

59-30-3

6037

Vitamin E

Approved, Nutraceutical, Vet_approved

Phase 2, Phase 3,Phase 3,Not Applicable

59-02-9

14985

Beta carotene

Approved, Nutraceutical

Phase 3,Phase 2,Not Applicable

7235-40-7

Orange

Approved, Nutraceutical

Phase 3,Not Applicable

Vaccines

Phase 2, Phase 3,Not Applicable

Ferrous fumarate

Phase 3

Hematinics

Phase 3,Not Applicable

Tin Fluorides

Phase 2, Phase 3

Tocopherols

Phase 2, Phase 3,Not Applicable

Tocotrienols

Phase 2, Phase 3,Not Applicable

Vitamin B Complex

Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 70)

#	Name	Status	NCT ID	Phase	Drugs
1	Adrenal Cortical Function and Vitamin A Deficiency in Sepsis	Completed	NCT03152474	Phase 4	Solumedrol 20mg;Vitamin A 100,000 IU
2	Deworming and Enhanced Vitamin A Every 6 Month in Rural Indian Children Aged 1-6	Completed	NCT00222547	Phase 4	Vitamin A;Albendazole
3	Efficacy of β-carotene Biofortified Maize in Reducing Vitamin A Deficiency Among Children	Completed	NCT01695148	Phase 3
4	Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status	Completed	NCT02804490	Phase 3
5	Stopping Postpartum Vitamin A Supplementation: Missing Concealed Benefit	Completed	NCT02043223	Phase 2, Phase 3
6	Impact of Maternal Supplementation With Dual Megadose of Vitamin A	Completed	NCT00742937	Phase 2, Phase 3
7	Trial of the Impact of Vitamin A on Maternal Mortality	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	Sub-clinical Inflammation and Iron Supplementation	Completed	NCT01198574	Phase 3
10	Carotenoid Supplementation and Normal Ocular Health	Completed	NCT02147171	Phase 2, Phase 3
11	Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh	Terminated	NCT00128557	Phase 3	vitamin A supplementation (50,000 IU)
12	Effect of Vitamin A Supplementation on Immune Responses in Human Neonates	Unknown status	NCT01476358	Phase 2
13	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study	Unknown status	NCT02804360	Phase 2
14	Vitamin A Absorption From Cassava in Women	Completed	NCT01381276	Phase 2
15	Vitamin A Equivalence of Plant Carotenoids in Children	Completed	NCT00680212	Phase 2
16	Vitamin A to Reduce HIV in Vaginal Secretions and Prevent Viral Transmission	Completed	NCT00053612	Phase 2	Vitamin A
17	Single-dose Postpartum Vitamin A Supplementation of Mothers and Neonates	Active, not recruiting	NCT00198718	Phase 2	Vitamin A (retinyl palmitate)
18	Gene Therapy for Gyrate Atrophy	Completed	NCT00001735	Phase 1
19	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye	Completed	NCT00063765	Phase 1	Ciliary Neurotrophic Factor Implant NT-501
20	Vitamin A Supplementation in Preterm Infants	Unknown status	NCT00063596	Not Applicable	Vitamin A supplementation
21	Nutributter Programming to Prevent Undernutrition: an Evaluation	Unknown status	NCT01552512	Not Applicable
22	The Role of Multivitamins in Pediatric HIV Management in Nigeria	Unknown status	NCT02552602	Not Applicable
23	Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene	Completed	NCT00569023	Not Applicable
24	Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection	Completed	NCT02363985	Not Applicable
25	Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function	Completed	NCT01583972	Not Applicable
26	Efficacy of Vitamin A in Fortified Extruded Rice in School Children	Completed	NCT01199445	Early Phase 1
27	Newborn Vitamin A (VA) Supplementation Pilot Project, Pakistan	Completed	NCT00674089	Not Applicable
28	Dietary Vitamin A Requirement in Chinese Children and the New Technology of Dietary Assessment	Completed	NCT01559766
29	Vitamin A, Stool Microbiota and Vaccine Response in Bangladeshi Infants	Completed	NCT02027610
30	An Efficacy Trial of Iron, Zinc and Vitamin A Fortified Rice in Children in Satun, Thailand	Completed	NCT01061307	Early Phase 1
31	Retinol Equivalence of Plant Carotenoids in Children	Completed	NCT00082420
32	Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality	Completed	NCT02965534	Not Applicable
33	Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death	Completed	NCT03305042
34	The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children	Completed	NCT02627222	Not Applicable
35	Efficacy of Yellow Cassava to Improve Vitamin A Status of Kenyan School Children	Completed	NCT01614483	Not Applicable
36	Visual Activity Evoked by Infrared in Humans After Dark Adaptation	Completed	NCT02909985	Not Applicable
37	Using Stable Isotopes to Assess the Effectiveness of Vitamin A Supplementation in Cameroon	Completed	NCT03383744	Not Applicable
38	Vitamin A Equivalence of the Provitamin A in Biofortified Bananas	Completed	NCT02702622	Not Applicable
39	Beta-carotene Absorption and Bioconversion to Vitamin A From Biofortified Cassava Gari	Completed	NCT02210507	Not Applicable
40	Effect of Daily Consumption of Orange Maize on Breast Milk Retinol in Lactating Zambian Women	Completed	NCT01922713	Not Applicable
41	Vitamin A Bioavailability in Lactating Women With Marginal Vitamin A Status	Completed	NCT01420406	Not Applicable
42	Impact of Consumption of Orange-fleshed Sweet Potatoes on the Vitamin A Status of Bangladeshi Women of Reproductive Age	Completed	NCT00453648	Not Applicable
43	Effect of SNPs in the BCMO1 Enzyme	Completed	NCT02276014	Not Applicable
44	Assessing Model Parameters for Applying the Retinol Isotope Dilution (RID) Method	Completed	NCT02996513	Not Applicable
45	A Study on Immunological Effect of Vitamin A and Zinc in a Placebo Controlled 4 Cell Trial	Completed	NCT00374023	Not Applicable	Zinc, or Vitamin A or both
46	Making Maternal Post-partum Vitamin A Supplementation Effective: The Role of Timing and Inflammation	Completed	NCT00952640	Not Applicable
47	Vitamin A and Maternal-infant Flu Vaccine Response	Completed	NCT00817661	Not Applicable
48	Oral Vitamin A Supplementation in Neonates With Birth Weight < 1500 g	Completed	NCT02102711	Not Applicable
49	High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM	Completed	NCT00388921	Not Applicable	Vitamin A
50	Identification of New Biomarkers of Banana and Tomato Intake	Completed	NCT03581955	Not Applicable

Search NIH Clinical Center for Night Blindness

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

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

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Genetic Tests for Night Blindness

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Anatomical Context for Night Blindness

MalaCards organs/tissues related to Night Blindness:

⁴¹

Eye, Liver, Testes, Bone, Retina, Pancreas, Skin

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Publications for Night Blindness

Articles related to Night Blindness:

(show top 50) (show all 406)

#	Title	Authors	Year
1	Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. ( 29522070 )	Miraldi Utz V....Drack A.V.	2018
2	Revisiting Congenital Stationary Night Blindness in the Molecular Era. ( 29522064 )	Koenekoop R.K.	2018
3	A Novel Heterozygous Missense Mutation in <i>GNAT1</i> Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. ( 29850563 )	Zeitz C....Marmor M.F.	2018
4	Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )	Waldner D.M....Bech-Hansen N.T.	2018
5	Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy. ( 29627037 )	Omoto S....Iguchi Y.	2018
6	Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )	Phanachet P....Warodomwichit D.	2018
7	Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. ( 28512427 )	Kurata K....Hotta Y.	2017
8	Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. ( 27803854 )	Zhou L....Zhang M.J.	2016
9	Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics. ( 27267879 )	Dinet V....Mascarelli F.	2016
10	Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. ( 27329127 )	Scott M.L....Forsyth G.W.	2016
11	Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer. ( 27084085 )	Al Oreany A.A....Schatz P.	2016
12	Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )	NeuillAc M....Zeitz C.	2016
13	Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )	Vincent A....HAcon E.	2016
14	Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation. ( 26427453 )	Conley S.M....Naash M.I.	2016
15	Clinical Characteristics, Mutation Spectrum, and Prevalence of A8land Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. ( 28002560 )	Hove M.N....Rosenberg T.	2016
16	Structural role of the T94I rhodopsin mutation in congenital stationary night blindness. ( 27458239 )	Singhal A....Standfuss J.	2016
17	Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness. ( 27601873 )	Cammack J....Stockman A.	2016
18	Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. ( 27428514 )	Dan H....Li T.	2016
19	Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. ( 26628857 )	Naeem M.A....Riazuddin S.A.	2015
20	Isotretinoin-Induced Night Blindness. ( 26288455 )	Madke B....Kar S.	2015
21	Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. ( 25487337 )	Ludwig A....Pruvost M.	2015
22	Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness. ( 26310623 )	Scalabrino M.L....Boye S.E.	2015
23	A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )	Kondo M....Miyadera K.	2015
24	Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness. ( 26241901 )	Qian H....Peachey N.S.	2015
25	Determinants of gestational night blindness in pregnant women from Rio de Janeiro, Brazil. ( 26055085 )	Saunders C....Schilithz A.O.	2015
26	A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease. ( 26246500 )	Vinberg F....Kefalov V.J.	2015
27	Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas. ( 25709934 )	Kontos A....Gillmore R.	2015
28	Assessment of selenium and mercury in biological samples of normal and night blindness children of age groups (3-7) and (8-12) years. ( 25655123 )	Afridi H.I....Ali J.	2015
29	Recurrent episodes of night blindness in a patient with short bowel syndrome. ( 26507840 )	Renner A.B....JAogle H.	2015
30	Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. ( 25748727 )	An J....Zhang Z.	2015
31	Acquired night blindness due to bad eating patterns. ( 25804276 )	Parafita-FernA!ndez A....FernA!ndez-Vila P.C.	2015
32	Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. ( 26234941 )	Dai S....Li N.	2015
33	Night blindness and Crohn's disease. ( 24715231 )	da Rocha Lima B....Lowder C.Y.	2014
34	Isotretinoin and night blindness. ( 25117163 )	Teo K....Yazdabadi A.	2014
35	Seasonal variation in night blindness incidence among Union soldiers in the US Civil War. ( 25200714 )	Lanska D.J.	2014
36	A truncated form of rod photoreceptor PDE6 I^-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the I^-subunit. ( 24760071 )	Manes G....Brabet P.	2014
37	Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. ( 24796500 )	Burtscher V....Koschak A.	2014
38	Prevalence of night blindness in Bashagard district in Hormozgan, Iran, in 2011. ( 25763164 )	Daryanavard A....Azarpeykan A.	2014
39	Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness. ( 24397708 )	Huynh N....Cukras C.A.	2014
40	Night blindness due to vitamin A deficiency associated with copper deficiency myelopathy secondary to bowel bypass surgery. ( 24781845 )	AlHassany A.A.	2014
41	Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). ( 24598786 )	NeuillAc M....Zeitz C.	2014
42	The role of prenatal nutrition assistance on the prevalence of night blindness in pregnant adults. ( 24951995 )	Ribeiro Neves P.A....Saunders C.	2014
43	Night blindness and ancient remedy. ( 25774260 )	Al Binali H.A.	2014
44	Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. ( 24466230 )	Regus-Leidig H....BrandstAotter J.H.	2014
45	Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. ( 24715752 )	Malaichamy S....Soumittra N.	2014
46	Congenital stationary night blindness: An analysis and update of genotype-phenotype correlations and pathogenic mechanisms. ( 25307992 )	Zeitz C....Audo I.	2014
47	Dysregulation of Cav 1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2. ( 24064553 )	Liu X....Lee A.	2013
48	Xerophthalmia and acquired night blindness in a patient with a history of gastrointestinal neoplasia and normal serum vitamin A levels. ( 23334438 )	Anastasakis A....Tsilimbaris M.K.	2013
49	Insights into congenital stationary night blindness based on the structure of G90D rhodopsin. ( 23579341 )	Singhal A....Standfuss J.	2013
50	Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness. ( 23296619 )	Vaidla K....Oitmaa E.	2013

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Genes for Night Blindness

Genes related to Night Blindness (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDE6B	Phosphodiesterase 6B	Protein Coding	75.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	11078833
2	NYX	Nyctalopin	Protein Coding	69.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17392683 11581222 15905181
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	69.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11078833 20238058
4	RHO	Rhodopsin	Protein Coding	68.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	63.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	58.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	GPR179	G Protein-Coupled Receptor 179	Protein Coding	58.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	CABP4	Calcium Binding Protein 4	Protein Coding	57.6	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
9	LRIT3	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3	Protein Coding	56.78	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
10	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	56.69	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	55.57	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	RDH5	Retinol Dehydrogenase 5	Protein Coding	55.21	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	16637847 11078833 11675386 (more) 12906118 15302662 10369264 18949499 11053295
13	SAG	S-Antigen Visual Arrestin	Protein Coding	53.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)	10549660 11078833 9497461 (more) 9501883 17070587 17069872
14	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	47.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
15	GNB3	G Protein Subunit Beta 3	Protein Coding	40.63	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	RPE65	RPE65, Retinoid Isomerohydrolase	Protein Coding	39.05	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	17011878

Sources

Variations for Night Blindness

Copy number variations for Night Blindness from CNVD:

⁷

#	CNVD ID	Chromosom	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 ⁶⁶ Show member pathways GPCR downstream signaling ⁶⁶ Signal Transduction ⁶⁶	13.72	GNAT1 GNB3 GRK1 GRM6 PDE6B RDH5
2	Metabolism of fat-soluble vitamins ⁶⁶ Show member pathways Metabolism of vitamin K ⁶⁶ Retinoid metabolism and transport ⁶⁶ The retinoid cycle in cones (daylight vision) ⁶⁶ Visual phototransduction ⁶⁶ Vitamin D (calciferol) metabolism ⁶⁶	12.09	GNAT1 GRK1 PDE6B RDH5 RHO RPE65
3	Phototransduction ³⁷ Show member pathways Activation of the phototransduction cascade ⁶⁶ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁶ The phototransduction cascade ⁶⁶ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	11.8	GNAT1 GNB3 GRK1 PDE6B RDH5 RHO
4	Visual Cycle in Retinal Rods ⁶⁴	11.25	CABP4 GNAT1 GRK1 PDE6B RDH5 RHO
5	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁶	11.17	RDH5 RHO RPE65

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	9.83	GNAT1 GRM6 LRIT3 RHO SAG
2	cell body	GO:0044297	9.5	GNB3 RDH5 RPE65
3	photoreceptor inner segment	GO:0001917	9.43	GNAT1 RHO SAG
4	photoreceptor outer segment membrane	GO:0042622	9.37	GNAT1 RHO
5	photoreceptor outer segment	GO:0001750	9.26	CACNA1F GNAT1 RHO SAG
6	new growing cell tip	GO:0035841	9.16	GRM6 TRPM1
7	photoreceptor disc membrane	GO:0097381	8.92	GNAT1 GRK1 PDE6B RHO
8	membrane	GO:0016020	10.22	CACNA1F GNAT1 GPR179 GRK1 GRM6 LRIT3
9	plasma membrane	GO:0005886	10.16	CACNA1F GNAT1 GNB3 GPR179 GRM6 PDE6B

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.8	CABP4 CACNA1F GNAT1 GPR179 GRK1 GRM6
2	retina development in camera-type eye	GO:0060041	9.77	GNAT1 GRM6 PDE6B RHO RPE65
3	calcium ion transmembrane transport	GO:0070588	9.75	CACNA1F SLC24A1 TRPM1
4	retinoid metabolic process	GO:0001523	9.69	RDH5 RHO RPE65
5	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.65	GNAT1 GRK1 PDE6B RHO SAG
6	phototransduction	GO:0007602	9.63	CABP4 GNAT1 RHO
7	detection of light stimulus involved in visual perception	GO:0050908	9.62	CACNA1F GNAT1 GRM6 RPE65
8	response to light stimulus	GO:0009416	9.61	GNAT1 RHO RPE65
9	retinol metabolic process	GO:0042572	9.58	RDH5 RPE65
10	phototransduction, visible light	GO:0007603	9.58	GNAT1 PDE6B RHO
11	G-protein coupled glutamate receptor signaling pathway	GO:0007216	9.57	GRM6 TRPM1
12	cellular response to light stimulus	GO:0071482	9.56	RHO TRPM1
13	cellular response to electrical stimulus	GO:0071257	9.55	GNAT1 RPE65
14	rhodopsin mediated signaling pathway	GO:0016056	9.55	GNAT1 GRK1 PDE6B RHO SAG
15	sensory perception of light stimulus	GO:0050953	9.54	GRM6 RHO
16	response to light intensity	GO:0009642	9.52	GNAT1 SLC24A1
17	detection of light stimulus	GO:0009583	9.49	PDE6B RHO
18	response to stimulus	GO:0050896	9.4	CACNA1F GNAT1 GRK1 GRM6 LRIT3 NYX
19	signal transduction	GO:0007165	10.13	CABP4 GNAT1 GNB3 GRK1 GRM6 PDE6B

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

#	Name	GO ID	Score	Top Affiliating Genes
1	obsolete signal transducer activity	GO:0004871	9.26	GNAT1 GNB3 GRM6 RHO
2	calcium channel activity	GO:0005262	8.8	CACNA1F SLC24A1 TRPM1

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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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:

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 73 / NDF-RT 51 :

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 ⁷³ / NDF-RT ⁵¹ :