MCID: CNG024
MIFTS: 40

Congenital Nystagmus malady

Summaries for Congenital Nystagmus

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MalaCards: Congenital Nystagmus, also known as nystagmus congenital, is related to albinism and strabismus. An important gene associated with Congenital Nystagmus is FRMD7 (FERM domain containing 7), and among its related pathways is Visual Cycle in Retinal Rods. The compounds eumelanin and dopachrome have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related mouse phenotypes are taste/olfaction and pigmentation.

Aliases & Classifications for Congenital Nystagmus

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

congenital nystagmus 8 10 60
nystagmus congenital 44


External Ids:

Disease Ontology8 DOID:9649
MeSH34 D020417
ICD9CM27 379.51

Related Diseases for Congenital Nystagmus

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Nystagmus family:

Nystagmus 7, Congenital Nystagmus 3, Congenital
Nystagmus 4, Congenital

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1albinism30.3TYRP1, MC1R, GPR143, SLC45A2, PAX6
2strabismus30.0GPR143
3achromatopsia29.8CNGA3, GNAT2
4ocular albinism29.8RECK, GPR143
5vestibular nystagmus10.3
6retinitis10.3
7nystagmus 1, congenital, x- linked10.2
8hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response10.1
9congenital nystagmus 6, x-linked10.1
10astigmatism10.0
11refractive error10.0
12nystagmus, congenital motor, autosomal recessive10.0
13oculocutaneous albinism type 410.0SLC45A2
14hyperopia10.0ROBO3, FRMD7
15waardenburg's syndrome10.0TYRP1
16cone-rod dystrophy 210.0GNAT2, KCNV2
17oculocutaneous albinism10.0SLC45A2, MC1R, TYRP1
18retinoblastoma10.0PAX6, GNAT2
19microphthalmia10.0PAX6, MC1R, TYRP1
20klippel-trenaunay syndrome9.9
21sensorineural hearing loss9.9
22congenital hypothyroidism9.9
23multiple epiphyseal dysplasia9.9
24aniridia9.9
25alternating esotropia9.9
26down syndrome9.9
27fragile x syndrome9.9
28dysostosis9.9
29esotropia9.9
30hypothyroidism9.9
31visual pathway disease9.9
32developmental disabilities9.9
33o donnell pappas syndrome9.9
34split hand split foot nystagmus9.9
35nystagmus 2, congenital, autosomal dominant9.9
36x-linked infantile nystagmus9.9
37nystagmus 7, congenital9.9
38nystagmus 3, congenital9.9
39nystagmus 4, congenital9.9

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



Diseases related to congenital nystagmus

Clinical Features for Congenital Nystagmus

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Drugs & Therapeutics for Congenital Nystagmus

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Congenital Nystagmus

Search CenterWatch for Congenital Nystagmus

Genetic Tests for Congenital Nystagmus

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Anatomical Context for Congenital Nystagmus

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32MalaCards
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MalaCards organs/tissues related to Congenital Nystagmus:

32
Eye, Brain, Skin

Animal Models for Congenital Nystagmus or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Nystagmus:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.8PAX6, CNGA3, LHX2
2MP:00011869.6TYRP1, MC1R, GPR143, SLC45A2, PAX6
3MP:00053779.3MKS1, TYRP1, MC1R, ROBO3, PAX6
4MP:00053918.9PAX6, LHX2, CABP4, GNAT2, MKS1, TYRP1
5MP:00036318.4LHX2, CABP4, GNAT2, MKS1, TYRP1, CNGA3

Publications for Congenital Nystagmus

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50PubMed
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Articles related to Congenital Nystagmus:

(show top 50)    (show all 278)
idTitleAuthorsYear
1
Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus. (24434814)
2014
2
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. (23733424)
2013
3
Cerebellar and visual gray matter brain volume increases in congenital nystagmus. (21994501)
2011
4
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. (21541274)
2011
5
Congenital nystagmus and negative electroretinography. (21573087)
2011
6
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. (19390656)
2009
7
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. (17516023)
2007
8
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. (17279539)
2007
9
Visual and perceptual consequences of congenital nystagmus. (16702076)
2006
10
Beating the beat: reading can be faster than the frequency of eye movements in persons with congenital nystagmus. (16909075)
2006
11
Changes in astigmatism in children with congenital nystagmus. (16362319)
2006
12
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. (16240070)
2006
13
Tenotomy and congenital nystagmus: a failure to answer the wrong question. (15474582)
2004
14
Congenital nystagmus: hypotheses for its genesis and complex waveforms within a behavioral ocular motor system model. (15330705)
2004
15
Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. (15629294)
2004
16
Effectiveness of retroequatorial recession surgery in congenital nystagmus. (15255367)
2004
17
Visual performance after congenital nystagmus surgery using extended hang back recession of the four horizontal rectus muscles. (12841563)
2003
18
Orientation discrimination and variability of torsional eye position in congenital nystagmus. (12350426)
2002
19
Clinical rationale for manifest congenital nystagmus surgery. (10773804)
2000
20
Visual control of postural orientation and equilibrium in congenital nystagmus. (11053279)
2000
21
A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. (10955655)
2000
22
Vestibular perception of angular velocity in normal subjects and in patients with congenital nystagmus. (10388795)
1999
23
Latent and congenital nystagmus in Down syndrome. (10494944)
1999
24
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. (9806847)
1998
25
Effects of acupuncture on foveation characteristics in congenital nystagmus. (9613375)
1998
26
The prevalence of strabismus in congenital nystagmus: the influence of anterior visual pathway disease. (10530980)
1997
27
The treatment of congenital nystagmus with Botox. (8531035)
1995
28
Contour interaction in the presence of congenital nystagmus. (7660585)
1995
29
Extraretinal signals for congenital nystagmus. (8505214)
1993
30
Foveation dynamics in congenital nystagmus. I: Fixation. (1568420)
1992
31
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. (2063919)
1991
32
Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. (1850461)
1991
33
Interrelations between measures of visual acuity and parameters of eye movement in congenital nystagmus. (1993594)
1991
34
Visual sensory disorders in congenital nystagmus. (2726182)
1989
35
The application of hard contact lenses in patients with congenital nystagmus. (2583648)
1989
36
Compensatory mechanisms in congenital nystagmus. (3661648)
1987
37
Waveform characteristics in congenital nystagmus. (3608756)
1986
38
Spectral analysis of dual jerk waveforms in congenital nystagmus. (3801542)
1986
39
Congenital nystagmus: control of slow tracking movements by target offset from the fovea. (3710185)
1986
40
Head shaking and vestibulo-ocular reflex in congenital nystagmus. (3874850)
1985
41
Congenital nystagmus surgery. (4077418)
1985
42
The differential diagnosis of congenital nystagmus. (6481387)
1984
43
Head and eye movements in congenital nystagmus. (6440084)
1984
44
Auditory feedback in the control of congenital nystagmus. (6881263)
1983
45
Role of contact lenses in the management of congenital nystagmus. (6671101)
1983
46
A new treatment for congenital nystagmus. (7356927)
1980
47
Suppression of congenital nystagmus. (731252)
1978
48
Surgery for abnormal head position in congenital nystagmus. (10949591)
1973
49
The value of electro-diagnostic procedures (ERG, EOG) in differential diagnosis of congenital nystagmus. (5300642)
1968
50
VESTIBULAR REACTIVITY IN CASES OF CONGENITAL NYSTAGMUS AND BLINDNESS. (14181101)
1964

Genetic Variations for Congenital Nystagmus

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Expression for genes affiliated with Congenital Nystagmus

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Nystagmus

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Pathways for genes affiliated with Congenital Nystagmus

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51QIAGEN
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Pathways related to Congenital Nystagmus according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CNGA3, GNAT2, CABP4

Compounds for genes affiliated with Congenital Nystagmus

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44Novoseek
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Compounds related to Congenital Nystagmus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1eumelanin4410.0MC1R, TYRP1
2dopachrome449.8MC1R, TYRP1
3silver449.8RECK, MC1R, TYRP1

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 segmentGO:00175010.1CNGA3, GNAT2
2melanosome membraneGO:0331629.6SLC45A2, GPR143, TYRP1

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

idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:00760210.2GNAT2, CABP4
2retinal cone cell developmentGO:04654910.0CABP4, GNAT2, CNGA3
3melanosome organizationGO:0324389.8GPR143, TYRP1
4melanin biosynthetic processGO:0424389.8SLC45A2, MC1R, TYRP1
5visual perceptionGO:0076019.5PAX6, SLC45A2, GPR143, CNGA3, GNAT2, CABP4

Products for genes affiliated with Congenital Nystagmus

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Sources for Congenital Nystagmus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet