MCID: CNG024
MIFTS: 43

Congenital Nystagmus malady

Neuronal diseases category
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Summaries for Congenital Nystagmus

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33MalaCards
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MalaCards: Congenital Nystagmus, also known as nystagmus congenital, is related to albinism and developmental disabilities. An important gene associated with Congenital Nystagmus is FRMD7 (FERM domain containing 7), and among its related pathways are Potassium transporters inward current and The phototransduction cascade. The compounds phaeomelanin and l-dopa have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Aliases & Classifications for Congenital Nystagmus

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8Disease Ontology, 10DISEASES, 62UMLS, 45Novoseek, 35MeSH, 58SNOMED-CT, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

congenital nystagmus 8 10 62
nystagmus congenital 45


External Ids:

Disease Ontology8 DOID:9649
MeSH35 D020417
ICD9CM27 379.51

Related Diseases for Congenital Nystagmus

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Nystagmus via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1albinism30.3TYR, GPR143, OCA2, MC1R, PAX6
2developmental disabilities29.9PAX6, TYR
3ocular albinism29.9TYR, GPR143, RECK
4achromatopsia29.9CNGA3, CNGB3, GNAT2
5retinitis10.3
6hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response10.2
7nystagmus 1, congenital, x- linked10.2
8congenital nystagmus 6, x-linked10.2
9astigmatism10.1
10refractive error10.1
11strabismus10.1
12nystagmus, congenital motor, autosomal recessive10.1
13hypotonia10.1
14spasmus nutans10.1
15oculocutaneous albinism type 210.1OCA2
16oculocutaneous albinism type 110.1TYR
17glaucoma 3, primary congenital, d10.0PAX6, TYR
18bardet-biedl syndrome10.0CCDC28B, TTC21B
19blue cone monochromacy10.0CNGA3, CNGB3
20microphthalmia10.0PAX6, MC1R, TYR
21hermansky-pudlak syndrome10.0OCA2, TYR
22color blindness10.0CNGA3, CNGB3
23oculocutaneous albinism10.0TYR, OCA2, MC1R
24intraocular melanoma10.0MC1R, TYR
25influenza9.9TYR, OCA2, RECK
26sensorineural hearing loss9.9
27multiple epiphyseal dysplasia9.9
28aniridia9.9
29fragile x syndrome9.9
30down syndrome9.9
31vestibular nystagmus9.9
32dysostosis9.9
33esotropia9.9
34hypothyroidism9.9
35visual pathway disease9.9
36hemimegalencephaly9.9
37leukonychia totalis9.9
38lowry wood syndrome9.9
39nystagmus 2, congenital, autosomal dominant9.9
40o donnell pappas syndrome9.9
41split hand split foot nystagmus9.9
42weber syndrome9.9
43mental retardation9.9
44x-linked infantile nystagmus9.9
45ataxia9.9
46foveal hypoplasia9.9
47blindness9.9
48split foot9.9
49split hand9.9
50melanoma9.9TYR, GPR143, OCA2, MC1R, RECK

Graphical network of the top 20 diseases related to Congenital Nystagmus:



Diseases related to congenital nystagmus

Symptoms for Congenital Nystagmus

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Drugs & Therapeutics for Congenital Nystagmus

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Congenital Nystagmus

Genetic Tests for Congenital Nystagmus

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Anatomical Context for Congenital Nystagmus

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33MalaCards
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MalaCards organs/tissues related to Congenital Nystagmus:

33
Eye, Brain, Skin

Animal Models for Congenital Nystagmus or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Nystagmus:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9TYR, GPR143, OCA2, MC1R, PAX6
2MP:00053718.3RECK, MC1R, OCA2, TTC21B, TYR
3MP:00053918.1CABP4, TYR, GPR143, GNAT2, OCA2, PAX6
4MP:00036317.0TYR, GPR143, GNAT2, TTC21B, PAX6, RECK

Publications for Congenital Nystagmus

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52PubMed
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Articles related to Congenital Nystagmus:

(show top 50)    (show all 260)
idTitleAuthorsYear
1
Astigmatism in patients with idiopathic congenital nystagmus. (23456100)
2013
2
Is it possible to measure peripheral vestibular function in a patient with congenital nystagmus? (21898086)
2012
3
Effects of visual processing and congenital nystagmus on visually guided ocular motor behaviour. (21166674)
2011
4
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. (21423867)
2011
5
Artiflex toric phakic intraocular lens implantation in congenital nystagmus. (21941505)
2011
6
Reduction of congenital nystagmus in a patient after smoking cannabis. (18306120)
2008
7
Novel mutations in FRMD7 in X-linked congenital nystagmus. (17397053)
2007
8
Visual and perceptual consequences of congenital nystagmus. (16702076)
2006
9
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205)
2006
10
Positive angle kappa: a sign of albinism in patients with congenital nystagmus. (15059699)
2004
11
Time-varying, slow-phase component interaction in congenital nystagmus. (14637369)
2004
12
The use of contact lenses to treat visually symptomatic congenital nystagmus. (14742616)
2004
13
Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part I. Wavelet spectral analysis. (12962991)
2003
14
Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs. (12973665)
2003
15
Effects of stimulus size and luminance on oscillopsia in congenital nystagmus. (14552809)
2003
16
Development of new treatments for congenital nystagmus. (11960819)
2002
17
Clinical rationale for manifest congenital nystagmus surgery. (10773804)
2000
18
Periodic alternating nystagmus and congenital nystagmus: similarities in possibly inherited cases. (10654319)
2000
19
The effectiveness of surgery for congenital nystagmus. (10396375)
1999
20
Multifaceted treatment of congenital nystagmus: a report of 6 cases. (8927312)
1996
21
A gene for autosomal dominant congenital nystagmus localizes to 6p12. (8661013)
1996
22
Congenital nystagmus: fine structure of human extraocular muscles. (8599162)
1995
23
Hereditary congenital nystagmus and gaze-holding failure: the role of the neural integrator. (8414024)
1993
24
Foveation dynamics in congenital nystagmus. III: Vestibulo-ocular reflex. (1568422)
1992
25
Congenital nystagmus: rebound phenomenon following removal of contact lenses. (1390535)
1992
26
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. (2063919)
1991
27
Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. (1850461)
1991
28
Etiology of reduced visual acuity in congenital nystagmus. (1755616)
1991
29
Interrelations between measures of visual acuity and parameters of eye movement in congenital nystagmus. (1993594)
1991
30
VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. (1651299)
1991
31
Changes in waveform of congenital nystagmus associated with biofeedback treatment. (2390522)
1990
32
Spectral analysis of pendular waveforms in congenital nystagmus. (2734003)
1989
33
Unilateral pursuit-induced congenital nystagmus. (2927651)
1989
34
Amount of surgery in congenital nystagmus. (2726158)
1989
35
Superimposition of ENG recording on video eye movements (congenital nystagmus). (3213754)
1988
36
Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients--autosomal dominant and x-chromosome recessive modes of inheritance. (3244412)
1988
37
A study of prismatic treatment of congenital nystagmus by electro-oculogram fixation, pursuit eye movement and optokinetic nystagmus. (3706071)
1986
38
Waveform characteristics in congenital nystagmus. (3608756)
1986
39
Spectral analysis of dual jerk waveforms in congenital nystagmus. (3801542)
1986
40
Acoustic brainstem electrical responses in congenital nystagmus. (3973479)
1985
41
A hypothetical explanation of congenital nystagmus. (6722208)
1984
42
Vestibulo-ocular and optokinetic deficits in albinos with congenital nystagmus. (6609907)
1984
43
Visual acuity and motor characteristics in congenital nystagmus. (6859182)
1983
44
Kocher-DebrAc-SAcmAclaigne syndrome and congenital nystagmus. (7111122)
1982
45
Congenital nystagmus. (7356925)
1980
46
A new treatment for congenital nystagmus. (7356927)
1980
47
Latent, manifest latent, and congenital nystagmus. (485910)
1979
48
Periodic alteration of null point in congenital nystagmus. Association with alternating gaze deviation and esotropia. (5057866)
1972
49
Prevalence and inheritance of congenital nystagmus in a Swedish population. (5159530)
1971
50
VESTIBULAR REACTIVITY IN CASES OF CONGENITAL NYSTAGMUS AND BLINDNESS. (14181101)
1964

Variations for Congenital Nystagmus

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Expression for genes affiliated with Congenital Nystagmus

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Nystagmus

Search GEO for disease gene expression data for Congenital Nystagmus.

Pathways for genes affiliated with Congenital Nystagmus

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50PathCards, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN
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Pathways related to Congenital Nystagmus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CNGA3, CNGB3
2
Show member pathways
9.5CNGA3, CNGB3, GNAT2
39.3CABP4, CNGA3, CNGB3, GNAT2

Compounds for genes affiliated with Congenital Nystagmus

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45Novoseek, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Congenital Nystagmus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1phaeomelanin4510.0MC1R, TYR
2l-dopa29 2411.0GPR143, TYR
3eumelanin4510.0MC1R, TYR
4Cyclic GMP249.8CNGA3, CNGB3
5dopachrome459.7MC1R, TYR
6castanospermine459.0RECK, TYR
7tunicamycin45 619.8TYR, LMLN, RECK

GO Terms for genes affiliated with Congenital Nystagmus

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16Gene Ontology
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Cellular components related to Congenital Nystagmus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:0426229.8CNGA3, GNAT2
2photoreceptor outer segmentGO:0017509.5GNAT2, CNGB3
3melanosome membraneGO:0331629.5OCA2, GPR143, TYR
4cytoplasmGO:0057377.8GPR143, TTC21B, OCA2, LMLN, PAX6, CCDC28B

Biological processes related to Congenital Nystagmus according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:0076029.9CABP4, GNAT2
2smoothened signaling pathwayGO:0072249.9PAX6, TTC21B
3melanin biosynthetic processGO:0424389.8MC1R, OCA2
4retinal cone cell developmentGO:0465499.8GNAT2, CNGA3, CABP4
5eye pigment biosynthetic processGO:0067269.6OCA2, GPR143, TYR
6transportGO:0068108.9CNGB3, CNGA3, SLC25A14
7visual perceptionGO:0076018.6CABP4, TYR, GPR143, GNAT2, PAX6, CNGB3

Molecular functions related to Congenital Nystagmus according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular cGMP activated cation channel activityGO:0052239.8CNGA3, CNGB3
2voltage-gated potassium channel activityGO:0052499.8CNGA3, CNGB3
3intracellular cAMP activated cation channel activityGO:0052229.7CNGA3, CNGB3
4cGMP bindingGO:0305539.5CNGA3, CNGB3

Products for genes affiliated with Congenital Nystagmus

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Sources for Congenital Nystagmus

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet