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

MCID: NGH001 MIFTS: 50	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 ⁷⁷ ⁵⁶ ⁴⁵ ¹⁵ ⁷⁴

Classifications:

MalaCards categories:
Global: Metabolic diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the eye and adnexa

Visual disturbances and blindness

Visual disturbances

Night blindness

External Ids:

Disease Ontology ¹² DOID:8499

ICD9CM ³⁶ 368.6 368.60

MeSH ⁴⁵ D009755

NCIt ⁵¹ C34850 C37997

SNOMED-CT ⁶⁹ 65194006 75390007

ICD10 ³⁴ H53.6 H53.60

UMLS ⁷⁴ 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 Metabolism of fat-soluble vitamins. The drugs Methylprednisolone hemisuccinate and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : ⁷⁷ Nyctalopia (/ˌnɪktəˈloʊpiə/ from Greek νύκτ- (nykt-), meaning ''night'', ἀλαός (alaos), meaning... 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 123)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked congenital stationary night blindness	34.7	CACNA1F NYX
2	night blindness, congenital stationary, type 2a	34.7	CACNA1F NYX
3	night blindness, congenital stationary, type 1a	34.5	NYX RHO
4	night blindness, congenital stationary, type 1e	34.5	CACNA1F GPR179 NYX
5	autosomal dominant congenital stationary night blindness	34.2	GNAT1 PDE6B RHO
6	night blindness, congenital stationary, type 1b	33.9	GPR179 GRM6 LRIT3 NYX TRPM1
7	autosomal recessive congenital stationary night blindness	33.5	GNAT1 GNB3 GRM6 SLC24A1
8	melanoma-associated retinopathy	32.1	RHO SAG TRPM1
9	oguchi disease	31.4	CACNA1F GNAT1 GRK1 GRM6 NYX PDE6B
10	yemenite deaf-blind hypopigmentation syndrome	31.1	RHO RPE65
11	myopia	30.5	CACNA1F NYX RHO
12	fundus albipunctatus	30.5	CACNA1F GNAT1 GRK1 PDE6B RDH5 RHO
13	aland island eye disease	30.0	CACNA1F NYX RPE65
14	achromatopsia	30.0	CACNA1F NYX RPE65
15	congenital stationary night blindness	29.9	CABP4 CACNA1F GNAT1 GNB3 GPR179 GRK1
16	retinitis pigmentosa	29.8	CACNA1F GNAT1 GRK1 NYX PDE6B RDH5
17	retinoschisis 1, x-linked, juvenile	29.6	NYX RPE65
18	retinal degeneration	29.5	PDE6B RHO RPE65 SAG
19	fundus dystrophy	29.0	GRK1 PDE6B RDH5 RHO RPE65
20	night blindness, congenital stationary, type 1d	12.8
21	night blindness, congenital stationary, type 1f	12.8
22	night blindness, congenital stationary, autosomal dominant 1	12.8
23	night blindness, congenital stationary, autosomal dominant 2	12.8
24	night blindness, congenital stationary, autosomal dominant 3	12.8
25	night blindness, congenital stationary, type 1h	12.8
26	night blindness, congenital stationary, type 1c	12.7
27	night blindness, congenital stationary, type 1g	12.7
28	night blindness-skeletal anomalies-dysmorphism syndrome	12.5
29	acquired night blindness	12.4
30	cone-rod synaptic disorder, congenital nonprogressive	12.3
31	oguchi disease 1	12.3
32	oguchi disease 2	12.3
33	chondroectodermal dysplasia with night blindness	12.2
34	keratomalacia	12.0
35	retinal cone dystrophy 3a	11.9
36	retinal cone dystrophy 3b	11.9
37	choroideremia	11.6
38	refsum disease, classic	11.3
39	late-onset retinal degeneration	11.2
40	bietti crystalline corneoretinal dystrophy	11.2
41	gyrate atrophy of choroid and retina	11.2
42	enhanced s-cone syndrome	11.2
43	bothnia retinal dystrophy	11.2
44	cone-rod dystrophy 16	11.2
45	cone-rod dystrophy 2	11.0
46	wagner vitreoretinopathy	11.0
47	retinitis pigmentosa 9	11.0
48	retinitis pigmentosa 10	11.0
49	leber congenital amaurosis 2	11.0
50	jalili syndrome	11.0

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:

²⁷ (show all 15)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-118	9.58	CABP4
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	9.58	RDH5
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-140	9.58	CABP4
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.58	CABP4
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-159	9.58	CABP4
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.58	TRPM1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.58	RDH5
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.58	CABP4 RDH5 TRPM1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-194	9.58	CABP4
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.58	CABP4
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	9.58	TRPM1
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.58	RDH5 TRPM1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.58	TRPM1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-80	9.58	TRPM1
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-99	9.58	CABP4

MGI Mouse Phenotypes related to Night Blindness:

⁴⁷

#	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 101)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Racepinephrine

Approved

Phase 4

329-65-7

838

Epinephrine

Approved, Vet_approved

Phase 4

51-43-4

5816

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

5755

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

6741

Albendazole

Approved, Vet_approved

Phase 4

54965-21-8

2082

Vitamin A

Approved, Nutraceutical, Vet_approved

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

68-26-8, 22737-96-8, 11103-57-4

9904001 445354

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

Retinol palmitate

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

Antioxidants

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

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4,Phase 2

Peripheral Nervous System Agents

Phase 4,Phase 2

Micronutrients

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

Vitamins

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

Nutrients

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

Gastrointestinal Agents

Phase 4,Phase 2

Hormones

Phase 4,Phase 2,Not Applicable

Antineoplastic Agents, Hormonal

Phase 4,Phase 2

glucocorticoids

Phase 4,Phase 2

Antiemetics

Phase 4,Phase 2

retinol

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

Anti-Inflammatory Agents

Phase 4,Phase 2

Trace Elements

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

Protective Agents

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

Hormone Antagonists

Phase 4,Phase 2

Autonomic Agents

Phase 4,Phase 2

Neuroprotective Agents

Phase 4

Epinephryl borate

Phase 4

Methylprednisolone Acetate

Phase 4

Prednisolone acetate

Phase 4

Antimitotic Agents

Phase 4

Anti-Infective Agents

Phase 4,Not Applicable

Antiparasitic Agents

Phase 4

Antiprotozoal Agents

Phase 4

Anthelmintics

Phase 4,Not Applicable

Orange

Approved

Phase 3,Not Applicable

Iron

Approved, Experimental

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

7439-89-6, 15438-31-0

27284 23925

Tocopherol

Approved, Investigational

Phase 2, Phase 3,Phase 3,Not Applicable

1406-66-2

14986

leucovorin

Approved

Phase 3,Not Applicable

58-05-9

143 6006

Ferrous fumarate

Approved

Phase 3

141-01-5

Beta carotene

Approved, Nutraceutical

Phase 3,Phase 2,Not Applicable

7235-40-7

Vitamin E

Approved, Nutraceutical, Vet_approved

Phase 2, Phase 3,Phase 3,Not Applicable

59-02-9

14985

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 3,Not Applicable

59-30-3

6037

Lutein

Approved, Investigational, Nutraceutical

Phase 2, Phase 3

127-40-2

6433159

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 3,Not Applicable

1406-16-2

Tocotrienol

Investigational

Phase 2, Phase 3,Phase 3,Not Applicable

6829-55-6

Vaccines

Phase 2, Phase 3,Not Applicable

Carotenoids

Phase 3,Phase 2,Not Applicable

Provitamins

Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 75)

#	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	Effects of Fat-soluble Vitamins Supplementation 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
12	Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh	Terminated	NCT00128557	Phase 3	vitamin A supplementation (50,000 IU)
13	Effect of Vitamin A Supplementation on Immune Responses in Human Neonates	Unknown status	NCT01476358	Phase 2
14	Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study	Unknown status	NCT02804360	Phase 2
15	Vitamin A Absorption From Cassava in Women	Completed	NCT01381276	Phase 2
16	Vitamin A Equivalence of Plant Carotenoids in Children	Completed	NCT00680212	Phase 2
17	Vitamin A to Reduce HIV in Vaginal Secretions and Prevent Viral Transmission	Completed	NCT00053612	Phase 2	Vitamin A
18	Single-dose Postpartum Vitamin A Supplementation of Mothers and Neonates	Active, not recruiting	NCT00198718	Phase 2	Vitamin A (retinyl palmitate)
19	Gene Therapy for Gyrate Atrophy	Completed	NCT00001735	Phase 1
20	Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye	Completed	NCT00063765	Phase 1	Ciliary Neurotrophic Factor Implant NT-501
21	Vitamin A Supplementation in Preterm Infants	Unknown status	NCT00063596	Not Applicable	Vitamin A supplementation
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	Nutritional Outcomes After Vitamin A Supplementation in Subjects With SCD	Completed	NCT03632876	Not Applicable
45	Assessing Model Parameters for Applying the Retinol Isotope Dilution (RID) Method	Completed	NCT02996513	Not Applicable
46	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
47	Making Maternal Post-partum Vitamin A Supplementation Effective: The Role of Timing and Inflammation	Completed	NCT00952640	Not Applicable
48	Vitamin A and Maternal-infant Flu Vaccine Response	Completed	NCT00817661	Not Applicable
49	Oral Vitamin A Supplementation in Neonates With Birth Weight < 1500 g	Completed	NCT02102711	Not Applicable
50	High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM	Completed	NCT00388921	Not Applicable	Vitamin A

Search NIH Clinical Center for Night Blindness

Inferred drug relations via UMLS ⁷⁴ / NDF-RT ⁵² :

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:

⁴²

Eye, Retina, Testes, Bone, Pancreas, Pineal, Skeletal Muscle

Sources

Publications for Night Blindness

Articles related to Night Blindness:

(show top 50) (show all 438)

#	Title	Authors	Year
1	Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. ( 30982101 )	Schatz A...Willmann G	2019
2	Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness. ( 31063016 )	Tourville A...Zeitz C	2019
3	Night blindness, Bitot's spot and vitamin A deficiency. ( 30265370 )	Mishra K...Malhotra P	2019
4	Night Blindness, Ring Scotoma, and a Nonrecordable Electroretinogram in an Elderly Woman. ( 30452517 )	Grassi MA...Marmor MF	2019
5	Molecular interactions and mutational impact upon rhodopsin (G90→D90) for hindering dark adaptation of eye: A comparative structural level outlook for signaling mechanism in night blindness. ( 30659944 )	Banerjee A...Ray S	2019
6	A Mixture of U.S. Food and Drug Administration-Approved Monoaminergic Drugs Protects the Retina From Light Damage in Diverse Models of Night Blindness. ( 30947334 )	Leinonen H...Palczewski K	2019
7	Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A). ( 29179637 )	Waldner DM...Bech-Hansen NT	2018
8	Revisiting Congenital Stationary Night Blindness in the Molecular Era. ( 29522064 )	Koenekoop RK	2018
9	Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children. ( 29522070 )	Miraldi Utz V...Drack AV	2018
10	A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness. ( 29850563 )	Zeitz C...Marmor MF	2018
11	Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association. ( 30051303 )	Marmor MF...Zeitz C	2018
12	Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F. ( 30067413 )	Abdelkader E...Schatz P	2018
13	Macular sensitivity in patients with congenital stationary night-blindness. ( 30573500 )	William A...Schatz A	2018
14	Congenital Stationary Night Blindness. ( 30578486 )	Tsang SH...Sharma T	2018
15	Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy. ( 29627037 )	Omoto S...Iguchi Y	2018
16	Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )	Phanachet P...Warodomwichit D	2018
17	Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness. ( 27428514 )	Dan H...Li T	2017
18	Long-Term Clinical Course in a Patient with Complete Congenital Stationary Night Blindness. ( 28512427 )	Kurata K...Hotta Y	2017
19	Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness. ( 26822852 )	Neuill? M...Zeitz C	2016
20	Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. ( 27063057 )	Vincent A...H?on E	2016
21	Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer. ( 27084085 )	Al Oreany AA...Schatz P	2016
22	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
23	Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. ( 27329127 )	Scott ML...Forsyth GW	2016
24	Structural role of the T94I rhodopsin mutation in congenital stationary night blindness. ( 27458239 )	Singhal A...Standfuss J	2016
25	Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness. ( 27601873 )	Cammack J...Stockman A	2016
26	Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness. ( 27803854 )	Zhou L...Zhang MJ	2016
27	Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. ( 28002560 )	Hove MN...Rosenberg T	2016
28	Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation. ( 26427453 )	Conley SM...Naash MI	2016
29	Determinants of gestational night blindness in pregnant women from Rio de Janeiro, Brazil. ( 26055085 )	Saunders C...Schilithz AO	2016
30	Acquired night blindness due to bad eating patterns. ( 25804276 )	Parafita-Fern?ndez A...Fern?ndez-Vila PC	2015
31	A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness. ( 26368928 )	Kondo M...Miyadera K	2015
32	Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. ( 25307992 )	Zeitz C...Audo I	2015
33	Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. ( 25748727 )	An J...Zhang Z	2015
34	Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness. ( 26234941 )	Dai S...Li N	2015
35	Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness. ( 26241901 )	Qian H...Peachey NS	2015
36	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 ML...Boye SE	2015
37	Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness. ( 26628857 )	Naeem MA...Riazuddin SA	2015
38	A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease. ( 26246500 )	Vinberg F...Kefalov VJ	2015
39	Isotretinoin-Induced Night Blindness. ( 26288455 )	Madke B...Kar S	2015
40	Recurrent episodes of night blindness in a patient with short bowel syndrome. ( 26507840 )	Renner AB...J?gle H	2015
41	Twenty-five thousand years of fluctuating selection on leopard complex spotting and congenital night blindness in horses. ( 25487337 )	Ludwig A...Pruvost M	2015
42	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 HI...Ali J	2015
43	Night blindness due to vitamin A deficiency associated with resected adenocarcinoma of the pancreas. ( 25709934 )	Kontos A...Gillmore R	2015
44	A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit. ( 24760071 )	Manes G...Brabet P	2014
45	CABP4 mutations do not cause congenital stationary night blindness. ( 24332535 )	Khan AO	2014
46	Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness. ( 24397708 )	Huynh N...Cukras CA	2014
47	Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2. ( 24466230 )	Regus-Leidig H...Brandst?tter JH	2014
48	Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB). ( 24598786 )	Neuill? M...Zeitz C	2014
49	Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort. ( 24715752 )	Malaichamy S...Soumittra N	2014
50	Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. ( 24796500 )	Burtscher V...Koschak A	2014

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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	74.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	11078833
2	NYX	Nyctalopin	Protein Coding	69.51	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	17392683 11581222 15905181
3	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	69.16	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11078833 20238058
4	RHO	Rhodopsin	Protein Coding	68	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	63.45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	58.48	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
7	GPR179	G Protein-Coupled Receptor 179	Protein Coding	57.95	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
8	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	57.38	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
9	CABP4	Calcium Binding Protein 4	Protein Coding	57.22	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
10	LRIT3	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 3	Protein Coding	56.42	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
11	GNAT1	G Protein Subunit Alpha Transducin 1	Protein Coding	56.36	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
12	SLC24A1	Solute Carrier Family 24 Member 1	Protein Coding	55.21	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
13	RDH5	Retinol Dehydrogenase 5	Protein Coding	54.49	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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	52.69	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries (show sections)	10549660 11078833 9497461 (more) 9501883 17070587 17069872
15	GNB3	G Protein Subunit Beta 3	Protein Coding	40.35	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)
16	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	39	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ 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 ⁶⁷ Show member pathways GPCR downstream signaling ⁶⁷ Signal Transduction ⁶⁷	13.76	GNAT1 GNB3 GRK1 GRM6 PDE6B RDH5
2	Metabolism of fat-soluble vitamins ⁶⁷ Show member pathways Metabolism of vitamin K ⁶⁷ Retinoid metabolism and transport ⁶⁷ The retinoid cycle in cones (daylight vision) ⁶⁷ Visual phototransduction ⁶⁷ Vitamin D (calciferol) metabolism ⁶⁷	12.19	GNAT1 GRK1 PDE6B RDH5 RHO RPE65
3	Phototransduction ³⁸ Show member pathways Activation of the phototransduction cascade ⁶⁷ Inactivation, recovery and regulation of the phototransduction cascade ⁶⁷ The phototransduction cascade ⁶⁷ Visual signal transduction- Cones ¹ Visual signal transduction- Rods ¹	12	GNAT1 GNB3 GRK1 PDE6B RDH5 RHO
4	Visual Cycle in Retinal Rods ⁶⁵	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) ⁶⁷	11.24	RDH5 RHO RPE65
6	Development_Thrombopoetin signaling via JAK-STAT pathway ²³	10.97	CABP4 GNAT1 GRK1 PDE6B RDH5 RHO

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	9.85	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	10.13	CACNA1F GNAT1 GNB3 GPR179 GRM6 PDE6B

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

(show all 20)

#	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	9.76	CACNA1F SLC24A1 TRPM1
4	retinoid metabolic process	GO:0001523	9.69	RDH5 RHO RPE65
5	phototransduction	GO:0007602	9.65	CABP4 GNAT1 RHO
6	regulation of rhodopsin mediated signaling pathway	GO:0022400	9.65	GNAT1 GRK1 PDE6B RHO SAG
7	response to light stimulus	GO:0009416	9.63	GNAT1 RHO RPE65
8	detection of light stimulus involved in visual perception	GO:0050908	9.62	CACNA1F GNAT1 GRM6 RPE65
9	retinol metabolic process	GO:0042572	9.59	RDH5 RPE65
10	phototransduction, visible light	GO:0007603	9.58	GNAT1 PDE6B RHO
11	cellular response to light stimulus	GO:0071482	9.57	RHO TRPM1
12	G protein-coupled glutamate receptor signaling pathway	GO:0007216	9.56	GRM6 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	10.09	CABP4 GNAT1 GNB3 GRK1 GRM6 PDE6B
20	G protein-coupled receptor signaling pathway	GO:0007186	10.05	GNAT1 GNB3 GPR179 GRM6 PDE6B RHO

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	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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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 74 / NDF-RT 52 :

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 ⁷⁴ / NDF-RT ⁵² :