CSNB1A
MCID: NGH026
MIFTS: 47

Night Blindness, Congenital Stationary, Type 1a (CSNB1A)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Night Blindness, Congenital Stationary, Type 1a

MalaCards integrated aliases for Night Blindness, Congenital Stationary, Type 1a:

Name: Night Blindness, Congenital Stationary, Type 1a 57 70
Night Blindness, Congenital Stationary , 1a, X-Linked 57 29 13
Hemeralopia-Myopia 57 12 72
Csnb1a 57 12 72
Congenital Stationary Night Blindness with Myopia 12 72
Congenital Stationary Night Blindness, Type 1a 29 6
Congenital Stationary Night Blindness 1a 12 15
Myopia-Night Blindness 57 12
Night Blindness, Congenital Stationary, with Myopia 57
Congenital Stationary Night Blindness 1a X-Linked 12
Blindness, Night, Stationary, Congenital, Type 1a 39
Night Blindness, Congenital Stationary, Type 2a 70
X-Linked Congenital Stationary Night Blindness 72
Night Blindness, Congenital Stationary, 1a 72
Myopia-Night Blindness; Nbm1 57
Csnb, Complete, X-Linked 57
Complete Csnb X-Linked 12
Complete X-Linked Csnb 72
Night Blindness 70
X-Linked Csnb 70
Nyctalopia 72
Xlcsnb 72
Nbm1 57
Nbmi 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive


HPO:

31
night blindness, congenital stationary, type 1a:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110870
OMIM® 57 310500
OMIM Phenotypic Series 57 PS310500
MeSH 44 D009755
UMLS 70 C0028077 C1848172 C3495587 more

Summaries for Night Blindness, Congenital Stationary, Type 1a

OMIM® : 57 Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by Riazuddin et al., 2010). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by Riazuddin et al., 2010). Van Genderen et al. (2009) noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, 300071). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact. Bijveld et al. (2013) noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents. (310500) (Updated 20-May-2021)

MalaCards based summary : Night Blindness, Congenital Stationary, Type 1a, also known as night blindness, congenital stationary , 1a, x-linked, is related to x-linked congenital stationary night blindness and night blindness, congenital stationary, type 1e, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Night Blindness, Congenital Stationary, Type 1a is NYX (Nyctalopin). The drugs Epinephrine and Methylprednisolone hemisuccinate have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and retina, and related phenotypes are myopia and high myopia

Disease Ontology : 12 A congenital stationary night blindness that has material basis in mutation in the NYX gene on chromosome Xp11.4.

UniProtKB/Swiss-Prot : 72 Night blindness, congenital stationary, 1A: A non-progressive retinal disorder characterized by impaired night vision. Congenital stationary night blindness type 1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.

Related Diseases for Night Blindness, Congenital Stationary, Type 1a

Diseases in the Congenital Stationary Night Blindness family:

Night Blindness, Congenital Stationary, Autosomal Dominant 2 Night Blindness, Congenital Stationary, Type 1b
Night Blindness, Congenital Stationary, Type 2a Night Blindness, Congenital Stationary, Type 1a
Night Blindness, Congenital Stationary, Autosomal Dominant 3 Night Blindness, Congenital Stationary, Autosomal Dominant 1
Night Blindness, Congenital Stationary, Type 1c Night Blindness, Congenital Stationary, Type 1d
Night Blindness, Congenital Stationary, Type 1e Night Blindness, Congenital Stationary, Type 1f
Night Blindness, Congenital Stationary, Type 1g Night Blindness, Congenital Stationary, Type 1h
Autosomal Dominant Congenital Stationary Night Blindness Autosomal Recessive Congenital Stationary Night Blindness

Diseases related to Night Blindness, Congenital Stationary, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 x-linked congenital stationary night blindness 32.5 NYX CACNA1F
2 night blindness, congenital stationary, type 1e 31.3 NYX GPR179 CACNA1F
3 night blindness, congenital stationary, type 2a 31.1 NYX CACNA1F
4 myopia 30.2 NYX GRM6 GNAT1 CACNA1F
5 pathologic nystagmus 30.1 NYX GPR179 CACNA1F CABP4
6 aland island eye disease 29.9 NYX CACNA1F CABP4
7 night blindness 29.7 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
8 congenital stationary night blindness 29.7 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
9 retinal disease 29.6 NYX GRM6 GNAT1 CACNA1F CABP4
10 night blindness, congenital stationary, type 1b 29.2 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
11 retinitis pigmentosa 28.9 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4
12 bietti crystalline corneoretinal dystrophy 11.0
13 usher syndrome, type iiia 11.0
14 usher syndrome, type iiib 11.0
15 enhanced s-cone syndrome 10.9
16 night blindness, congenital stationary, type 1d 10.9
17 night blindness, congenital stationary, type 1h 10.9
18 xerophthalmia 10.9
19 cone-rod dystrophy 2 10.9
20 wagner vitreoretinopathy 10.9
21 reticular dystrophy of retinal pigment epithelium 10.9
22 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 10.9
23 retinitis pigmentosa 17 10.9
24 late-onset retinal degeneration 10.9
25 birdshot chorioretinopathy 10.9
26 posterior column ataxia with retinitis pigmentosa 10.9
27 retinal cone dystrophy 3b 10.9
28 ayazi syndrome 10.9
29 yemenite deaf-blind hypopigmentation syndrome 10.6
30 strabismus 10.6
31 mechanical strabismus 10.6
32 refractive error 10.5
33 night blindness, congenital stationary, autosomal dominant 2 10.3
34 absolute glaucoma 10.3
35 rapidly involuting congenital hemangioma 10.3
36 neuroretinitis 10.3
37 retinitis 10.3
38 ocular albinism, x-linked 10.3
39 keratomalacia 10.2
40 cone-rod dystrophy 3 10.1 CACNA1F CABP4
41 cone-rod dystrophy, x-linked, 3 10.1 NYX CACNA1F CABP4
42 achromatopsia 10.0 NYX CACNA1F CABP4
43 achromatopsia 3 10.0 NYX LRRC70 CACNA1F
44 ocular albinism 10.0 CACNA1F CABP4
45 eye disease 9.9
46 retinoschisis 1, x-linked, juvenile 9.9 NYX GRM6 CACNA1F CABP4
47 cone-rod dystrophy 6 9.9 CACNA1F CABP4
48 night blindness, congenital stationary, autosomal dominant 3 9.8 GNAT1 CACNA1F
49 cystic fibrosis 9.8
50 ataxia and polyneuropathy, adult-onset 9.8

Graphical network of the top 20 diseases related to Night Blindness, Congenital Stationary, Type 1a:



Diseases related to Night Blindness, Congenital Stationary, Type 1a

Symptoms & Phenotypes for Night Blindness, Congenital Stationary, Type 1a

Human phenotypes related to Night Blindness, Congenital Stationary, Type 1a:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545
2 high myopia 31 HP:0011003
3 congenital stationary night blindness 31 HP:0007642
4 hemeralopia 31 HP:0012047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
high myopia
hemeralopia
night blindness, stationary
impaired visual acuity

Clinical features from OMIM®:

310500 (Updated 20-May-2021)

UMLS symptoms related to Night Blindness, Congenital Stationary, Type 1a:


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

GenomeRNAi Phenotypes related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 CACNA1F CFD GRM6

MGI Mouse Phenotypes related to Night Blindness, Congenital Stationary, Type 1a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CABP4 CACNA1F GNAT1 GPR179 GRM6 NYX

Drugs & Therapeutics for Night Blindness, Congenital Stationary, Type 1a

Drugs for Night Blindness, Congenital Stationary, Type 1a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Racepinephrine Approved Phase 4 329-65-7 838
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Micronutrients Phase 4
11 Retinol palmitate Phase 4
12 Trace Elements Phase 4
13 Nutrients Phase 4
14 retinol Phase 4
15 Vitamins Phase 4
16 Protective Agents Phase 4
17 Epinephryl borate Phase 4
18 Methylprednisolone Acetate Phase 4
19 Hormones Phase 4
20 Gastrointestinal Agents Phase 4
21 Antiemetics Phase 4
22 Neuroprotective Agents Phase 4
23 glucocorticoids Phase 4
24 Hormone Antagonists Phase 4
25 Antineoplastic Agents, Hormonal Phase 4
26 Anti-Inflammatory Agents Phase 4
27 Orange Approved Phase 3
28
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
29
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7 5280489
30 Calciferol Phase 3
31 Carotenoids Phase 3
32 Provitamins Phase 3
33 Vaccines Phase 2, Phase 3
34 Tin Fluorides Phase 2, Phase 3
35
Iron Approved Phase 2 7439-89-6 23925 29936
36 Cassava Phase 2
37 Antioxidants Phase 2
38 Chelating Agents Phase 2
39 N,N'-Bis(2-mercaptoethyl)isophthalamide Phase 2
40
Mannitol Approved, Investigational 69-65-8 453 6251
41
Lactulose Approved 4618-18-2 11333
42
Zinc sulfate Approved, Investigational 7733-02-0
43 Tangerine Approved
44
BCG vaccine Approved, Investigational
45
acetic acid Approved 64-19-7 176
46
Tocopherol Approved, Investigational 1406-66-2
47
tannic acid Approved 1401-55-4
48
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
49
Zinc Approved, Investigational 7440-66-6 32051
50
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis, Severe Sepsis and Septic Shock: Prospective Randomized, Double Blind Placebo Controlled Clinical Trials Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
2 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants Unknown status NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
3 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
4 Impact of Supplementation With Dual Megadose of Vitamin A in the Post-partum About Vitamin A Levels in Breast Milk, Serum Levels of Vitamin A and Iron in the Binomial Mother-son and Growth and Morbidity of Children Under 6 Months Completed NCT00742937 Phase 2, Phase 3
5 Efficacy of β-carotene Biofortified Maize in Improving Vitamin A Status and Reducing the Prevalence of Vitamin A Deficiency Among Children in Rural Zambia Completed NCT01695148 Phase 3
6 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit? Completed NCT02043223 Phase 2, Phase 3
7 Randomised Double-blind Placebo-controlled Trial to Evaluate the Impact of Vitamin A on Maternal Mortality in Ghana Completed NCT00211341 Phase 3
8 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
9 A Double-blinded, Randomized Controlled Trial to Evaluate the Efficacy, Safety, and Tolerability of N1, N3-bis-(2-Mercaptoethyl) Isophthalamide (NBMI) in the Reduction of Mercury Levels, in Subjects Exposed to Mercury in Atlántico, Colombia Not yet recruiting NCT04183595 Phase 2, Phase 3 (N1, N3-bis(2- mercaptoethyl)isophthalamide)
10 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)
11 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. Unknown status NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
12 A Randomized Controlled Trial in Human Neonates to Determine the Effect of Vitamin A Supplementation on Immune Responses Unknown status NCT01476358 Phase 2
13 Phase 2 Study of VITAMIN A EQUIVALENCE OF PLANT CAROTENOIDS IN CHILDREN Completed NCT00680212 Phase 2
14 Vitamin A Equivalence of Carotenoids From Cassava in Women Completed NCT01381276 Phase 2
15 Prevention of HIV Shedding in Women - Trial of Vitamin A Completed NCT00053612 Phase 2 Vitamin A
16 A Randomized, Placebo-controlled Study to Explore Safety, Dose and Efficacy of NBMI in a Mercury Intoxicated Population Completed NCT02486289 Phase 2 Emeramide;Placebo
17 A Randomised, Placebo-controlled, Blinded, Cross-over, Pilot Study to Explore Safety and Efficacy of NBMI Treatment of Patients With Mild, Moderate and Severe Chronic Obstructive Pulmonary Disease (COPD) Completed NCT03123692 Phase 2 Emeramide;Placebo
18 A Pilot Exploratory, Randomised, Placebo-controlled, Double Blinded, Cross-over , Phase 2a Study to Explore Efficacy and Safety of NBMI Treatment in Patients With Progressive Supranuclear Palsy (PSP) or Multiple System Atrophy (MSA) Recruiting NCT04184063 Phase 2 NBMI
19 EMERA007 - An Open Label, Active-treatment Controlled, Phase 2a Pilot Study to Explore Safety and Efficacy of NBMI Treatment in Patients With Beta Thalassemia Major, Requiring Iron Chelation Recruiting NCT04092205 Phase 2 Emeramide
20 Effect of an Individualized Dietary Intervention on the Body Composition and Vitamin A Status of Breastfeeding Women Unknown status NCT03640104
21 The Assessment of Sub-Regional Micronutrient Deficiencies in Ethiopia to Target Bio Fortification. Unknown status NCT03353662
22 The Effect of Biscuits Containing Red Palm Oil on School Children With Vitamin A Deficiency in West and East Malaysia Unknown status NCT03256123
23 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534
24 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023
25 Effects of Environmental Enteric Dysfunction (EED) on Zinc (Zn) Absorption and Retention in Young Children: Study 1 - Absorption of Zn and Vitamin A From a Standard Dose Completed NCT02760095 3 mg zinc sulfate supplement;0.5 mg of 13C10-retinyl-acetate
26 Evaluation of the Effectiveness of Vitamin A Supplementation (VAS) as Part of a Neonatal Post Partum Care Package in Rural Pakistan Completed NCT00674089
27 Efficacy of Vitamin A in Fortified Extruded Rice in School Children in Satun, Thailand Completed NCT01199445 Early Phase 1
28 Estimating Dietary Vitamin A Requirement in Chinese Children by Stable-isotope Dilution Technique Completed NCT01559766
29 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT03383744
30 Vitamin A in Sickle Cell Disease: Improving Sub-optimal Status With Supplementation Completed NCT03632876
31 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622
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 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972
34 An Efficacy Trial of Fe, Zn and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
35 Efficacy of Yellow Cassava to Improve Vitamin A Status of Mildly Deficient Primary School Children in Kenya: a Randomized Controlled Trial Completed NCT01614483
36 Effect of Daily Consumption of β-carotene Biofortified Maize on Milk Retinol Concentration in Lactating Zambian Women Completed NCT01922713
37 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222
38 Effect of SNPs in the Beta-carotene 15, 15'-Monooxygenase (BCMO1) Enzyme on Retinol Formation and Beta-carotene Plasma Responses Completed NCT02276014
39 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection in Ethiopia Completed NCT02363985
40 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
41 Newborn Vitamin A Supplementation, Gut Microbiota and Vaccine Response During the Second Year of Life in Bangladeshi Infants Completed NCT02027610
42 The Effect of Retinol and RBP Levels of Cord Blood and Mothers on Mortality and Morbidity in Prematures With 30 Weeks and Lower Completed NCT04780958
43 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
44 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
45 Development of 13C-Retinol Isotope Dilution Techniques Completed NCT04123210
46 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
47 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
48 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
49 Determination of Relative Bioavailability, Bioconversion and Bioefficacy of β-cryptoxanthin in Comparison to β-carotene From Biofortified Maize and External Stable Isotopes Using Compartmental Modelling Recruiting NCT04153968
50 Niveles de Retinol Hepatico y óseo en cadáveres de Adolescentes y Adultos Guatemaltecos (Liver and Bone Retinol Levels in Guatemalan Adolescents and Adults) Recruiting NCT04438200

Search NIH Clinical Center for Night Blindness, Congenital Stationary, Type 1a

Inferred drug relations via UMLS 70 / 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)

Genetic Tests for Night Blindness, Congenital Stationary, Type 1a

Genetic tests related to Night Blindness, Congenital Stationary, Type 1a:

# Genetic test Affiliating Genes
1 Congenital Stationary Night Blindness, Type 1a 29 NYX
2 Night Blindness, Congenital Stationary (complete), 1a, X-Linked 29

Anatomical Context for Night Blindness, Congenital Stationary, Type 1a

MalaCards organs/tissues related to Night Blindness, Congenital Stationary, Type 1a:

40
Eye, Liver, Retina, Bone

Publications for Night Blindness, Congenital Stationary, Type 1a

Articles related to Night Blindness, Congenital Stationary, Type 1a:

(show all 27)
# Title Authors PMID Year
1
CSNB1 in Chinese families associated with novel mutations in NYX. 57 6
16670814 2006
2
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. 57 6
11062472 2000
3
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. 57 6
11062471 2000
4
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. 57
23714322 2013
5
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. 57
20850105 2010
6
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. 57
19896109 2009
7
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. 57
19074807 2009
8
Identification of the gene and the mutation responsible for the mouse nob phenotype. 57
12506099 2003
9
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family. 57
10439964 1999
10
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. 57
9662400 1998
11
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. 57
9529339 1998
12
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. 57
8981959 1997
13
Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. 57
7966198 1994
14
Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia. 57
8375106 1993
15
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. 57
8434607 1993
16
Affected females in X-linked congenital stationary night blindness. 57
1594221 1992
17
Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. 57
1740347 1992
18
Gene locus for X-linked CSNB. 57
2276749 1990
19
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. 57
1969841 1990
20
Variable expressivity in X-linked congenital stationary night blindness. 57
2328435 1990
21
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. 57
2574143 1989
22
Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. 57
2564836 1989
23
X-linked congenital stationary night blindness. Review and report of a family with hyperopia. 57
3052384 1988
24
Congenital stationary night blindness with negative electroretinogram. A new classification. 57
3488053 1986
25
Sex-linked myopic chorioretinal heredodegeneration. 57
5294608 1965
26
Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness. 61
31826698 2019
27
A novel missense mutation in the NYX gene associated with high myopia. 61
23406521 2013

Variations for Night Blindness, Congenital Stationary, Type 1a

ClinVar genetic disease variations for Night Blindness, Congenital Stationary, Type 1a:

6 (show all 36)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NYX NYX, 24-BP DEL Deletion Pathogenic 11420 GRCh37:
GRCh38:
2 NYX NM_022567.2(NYX):c.1049G>A (p.Trp350Ter) SNV Pathogenic 11421 rs62637037 GRCh37: X:41333755-41333755
GRCh38: X:41474502-41474502
3 NYX NM_022567.2(NYX):c.105C>A (p.Cys35Ter) SNV Pathogenic 11422 rs62637021 GRCh37: X:41332811-41332811
GRCh38: X:41473558-41473558
4 NYX NM_022567.2(NYX):c.559_560delinsAA (p.Ala187Lys) Indel Pathogenic 11423 rs62637027 GRCh37: X:41333265-41333266
GRCh38: X:41474012-41474013
5 NYX NM_022567.2(NYX):c.281G>C (p.Arg94Pro) SNV Pathogenic 11424 rs104894910 GRCh37: X:41332987-41332987
GRCh38: X:41473734-41473734
6 NYX NM_022567.2(NYX):c.302T>C (p.Ile101Thr) SNV Pathogenic 11425 rs104894911 GRCh37: X:41333008-41333008
GRCh38: X:41473755-41473755
7 NYX NM_001378477.1(NYX):c.619_627dup (p.Arg207_Arg209dup) Duplication Likely pathogenic 931985 GRCh37: X:41333316-41333317
GRCh38: X:41474063-41474064
8 NYX NM_022567.2(NYX):c.*103G>A SNV Uncertain significance 368275 rs750048192 GRCh37: X:41334255-41334255
GRCh38: X:41475002-41475002
9 NYX NM_022567.2(NYX):c.582C>A (p.Ile194=) SNV Uncertain significance 596320 rs746383908 GRCh37: X:41333288-41333288
GRCh38: X:41474035-41474035
10 NYX NM_001378477.1(NYX):c.802C>G (p.Arg268Gly) SNV Uncertain significance 914666 GRCh37: X:41333508-41333508
GRCh38: X:41474255-41474255
11 NYX NM_001378477.1(NYX):c.*383G>T SNV Uncertain significance 913806 GRCh37: X:41334535-41334535
GRCh38: X:41475282-41475282
12 NYX NM_001378477.1(NYX):c.-42+99T>C SNV Uncertain significance 914163 GRCh37: X:41306868-41306868
GRCh38: X:41447615-41447615
13 NYX NM_001378477.1(NYX):c.*744C>T SNV Uncertain significance 914209 GRCh37: X:41334896-41334896
GRCh38: X:41475643-41475643
14 NYX NM_001378477.1(NYX):c.163C>T (p.Arg55Trp) SNV Uncertain significance 914661 GRCh37: X:41332869-41332869
GRCh38: X:41473616-41473616
15 NYX NM_001378477.1(NYX):c.383C>T (p.Ala128Val) SNV Uncertain significance 914663 GRCh37: X:41333089-41333089
GRCh38: X:41473836-41473836
16 NYX NM_001378477.1(NYX):c.660C>G (p.Ala220=) SNV Uncertain significance 914664 GRCh37: X:41333366-41333366
GRCh38: X:41474113-41474113
17 NYX NM_001378477.1(NYX):c.737C>T (p.Pro246Leu) SNV Uncertain significance 914665 GRCh37: X:41333443-41333443
GRCh38: X:41474190-41474190
18 NYX NM_022567.2(NYX):c.*157C>G SNV Uncertain significance 368276 rs1057515884 GRCh37: X:41334309-41334309
GRCh38: X:41475056-41475056
19 NYX NM_022567.2(NYX):c.*72T>C SNV Uncertain significance 368274 rs1057515883 GRCh37: X:41334224-41334224
GRCh38: X:41474971-41474971
20 NYX NM_022567.2(NYX):c.-328T>C SNV Uncertain significance 368264 rs777981530 GRCh37: X:41306815-41306815
GRCh38: X:41447562-41447562
21 NYX NM_022567.2(NYX):c.-86T>G SNV Uncertain significance 368267 rs755997910 GRCh37: X:41307057-41307057
GRCh38: X:41447804-41447804
22 NYX NM_001378477.1(NYX):c.*140G>A SNV Uncertain significance 913804 GRCh37: X:41334292-41334292
GRCh38: X:41475039-41475039
23 NYX NM_001378477.1(NYX):c.*152A>G SNV Likely benign 913805 GRCh37: X:41334304-41334304
GRCh38: X:41475051-41475051
24 NYX NM_022567.2(NYX):c.*736G>C SNV Likely benign 368280 rs141612904 GRCh37: X:41334888-41334888
GRCh38: X:41475635-41475635
25 NYX NM_022567.2(NYX):c.1035G>A (p.Glu345=) SNV Likely benign 368269 rs143486101 GRCh37: X:41333741-41333741
GRCh38: X:41474488-41474488
26 NYX NM_022567.2(NYX):c.1227C>T (p.Thr409=) SNV Likely benign 368271 rs187149252 GRCh37: X:41333933-41333933
GRCh38: X:41474680-41474680
27 NYX NM_022567.2(NYX):c.843G>A (p.Glu281=) SNV Likely benign 368268 rs3810733 GRCh37: X:41333549-41333549
GRCh38: X:41474296-41474296
28 NYX NM_022567.2(NYX):c.1394G>T (p.Cys465Phe) SNV Likely benign 756676 rs374968384 GRCh37: X:41334100-41334100
GRCh38: X:41474847-41474847
29 NYX NM_022567.2(NYX):c.*414C>T SNV Likely benign 368277 rs58930096 GRCh37: X:41334566-41334566
GRCh38: X:41475313-41475313
30 NYX NM_022567.2(NYX):c.1198G>A (p.Gly400Ser) SNV Likely benign 368270 rs189924262 GRCh37: X:41333904-41333904
GRCh38: X:41474651-41474651
31 NYX NM_022567.2(NYX):c.*509G>C SNV Benign 368278 rs3021319 GRCh37: X:41334661-41334661
GRCh38: X:41475408-41475408
32 NYX NM_022567.2(NYX):c.-314A>G SNV Benign 368265 rs3013121 GRCh37: X:41306829-41306829
GRCh38: X:41447576-41447576
33 NYX NM_022567.2(NYX):c.1217C>G (p.Ala406Gly) SNV Benign 195374 rs34169326 GRCh37: X:41333923-41333923
GRCh38: X:41474670-41474670
34 NYX NM_001378477.1(NYX):c.222G>A (p.Leu74=) SNV Benign 914662 GRCh37: X:41332928-41332928
GRCh38: X:41473675-41473675
35 NYX NM_022567.2(NYX):c.-279T>C SNV Benign 368266 rs3013122 GRCh37: X:41306864-41306864
GRCh38: X:41447611-41447611
36 NYX NM_022567.2(NYX):c.1253C>G (p.Ser418Cys) SNV Benign 368272 rs776029387 GRCh37: X:41333959-41333959
GRCh38: X:41474706-41474706

UniProtKB/Swiss-Prot genetic disease variations for Night Blindness, Congenital Stationary, Type 1a:

72 (show all 16)
# Symbol AA change Variation ID SNP ID
1 NYX p.Cys31Ser VAR_013867 rs62637020
2 NYX p.Ala143Pro VAR_013868 rs62637023
3 NYX p.Pro151Leu VAR_013869 rs62637024
4 NYX p.Pro175Arg VAR_013870 rs62637025
5 NYX p.Leu184Pro VAR_013871 rs62637026
6 NYX p.Ala187Lys VAR_013872 rs62637027
7 NYX p.Leu213Gln VAR_013873 rs62637028
8 NYX p.Asn216Ser VAR_013874
9 NYX p.Leu232Pro VAR_013875 rs62637030
10 NYX p.Asn264Lys VAR_013876 rs62637032
11 NYX p.Leu285Pro VAR_013877 rs62637033
12 NYX p.Phe298Ser VAR_013878 rs62637034
13 NYX p.Leu307Pro VAR_013879
14 NYX p.Asn312Ser VAR_013880 rs62637035
15 NYX p.Leu347Pro VAR_013881 rs62637036
16 NYX p.Gly370Val VAR_013882 rs62637038

Expression for Night Blindness, Congenital Stationary, Type 1a

Search GEO for disease gene expression data for Night Blindness, Congenital Stationary, Type 1a.

Pathways for Night Blindness, Congenital Stationary, Type 1a

GO Terms for Night Blindness, Congenital Stationary, Type 1a

Cellular components related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.62 GNAT1 CACNA1F

Biological processes related to Night Blindness, Congenital Stationary, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 NYX GRM6 GNAT1 CACNA1F
2 retina development in camera-type eye GO:0060041 9.32 GRM6 GNAT1
3 phototransduction GO:0007602 9.26 GNAT1 CABP4
4 detection of light stimulus involved in visual perception GO:0050908 9.13 GRM6 GNAT1 CACNA1F
5 visual perception GO:0007601 9.1 NYX GRM6 GPR179 GNAT1 CACNA1F CABP4

Sources for Night Blindness, Congenital Stationary, Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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