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 brain, smooth muscle and skin, and related mouse phenotypes are taste/olfaction and pigmentation.

Aliases & Classifications for Congenital Nystagmus

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 45Novoseek, 35MeSH, 57SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

congenital nystagmus 8 10 61
nystagmus congenital 45


External Ids:

Disease Ontology8 DOID:9649
MeSH35 D020417
ICD9CM27 379.51

Related Diseases for Congenital Nystagmus

Sources:
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 47)
idRelated DiseaseScoreTop Affiliating Genes
1albinism30.4TYRP1, MC1R, GPR143, SLC45A2, PAX6
2strabismus30.1GPR143
3achromatopsia29.9CNGA3, GNAT2
4ocular albinism29.9RECK, GPR143
5n syndrome10.4
6vestibular nystagmus10.3
7nystagmus 1, congenital, x- linked10.2
8hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response10.2
9congenital nystagmus 6, x-linked10.2
10nystagmus 7, congenital10.2
11astigmatism10.1
12congenital torticollis10.1
13split hand split foot nystagmus10.1
14nystagmus, congenital motor, autosomal recessive10.1
15hypotonia10.1
16spasmus nutans10.1
17oculocutaneous albinism type 410.0SLC45A2
18hyperopia10.0ROBO3, FRMD7
19waardenburg's syndrome10.0TYRP1
20cone-rod dystrophy 210.0GNAT2, KCNV2
21oculocutaneous albinism10.0SLC45A2, MC1R, TYRP1
22retinoblastoma10.0PAX6, GNAT2
23microphthalmia10.0PAX6, MC1R, TYRP1
24klippel-trenaunay syndrome9.9
25sensorineural hearing loss9.9
26congenital hypothyroidism9.9
27multiple epiphyseal dysplasia9.9
28aniridia9.9
29alternating esotropia9.9
30visual pathway disease9.9
31developmental disabilities9.9
32lowry wood syndrome9.9
33o donnell pappas syndrome9.9
34hemimegalencephaly9.9
35leukonychia totalis9.9
36weber syndrome9.9
37nystagmus 2, congenital, autosomal dominant9.9
38mental retardation9.9
39x-linked infantile nystagmus9.9
40ataxia9.9
41nystagmus 3, congenital9.9
42foveal hyperplasia9.9
43nystagmus 4, congenital9.9
44blindness9.9
45congenital achiasma9.9
46split foot9.9
47split hand9.9

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



Diseases related to congenital nystagmus

Clinical Features for Congenital Nystagmus

Drugs & Therapeutics for Congenital Nystagmus

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Nystagmus

Drug clinical trials:

Search ClinicalTrials for Congenital Nystagmus

Search NIH Clinical Center for Congenital Nystagmus

Search CenterWatch for Congenital Nystagmus

Genetic Tests for Congenital Nystagmus

Anatomical Context for Congenital Nystagmus

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33MalaCards
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MalaCards organs/tissues related to Congenital Nystagmus:

33
Brain, Smooth muscle, Skin

Animal Models for Congenital Nystagmus or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Congenital Nystagmus

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51PubMed
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Articles related to Congenital Nystagmus:

(show top 50)    (show all 278)
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
Artiflex toric phakic intraocular lens implantation in congenital nystagmus. (21941505)
2011
4
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. (18246032)
2008
5
Effect of horizontal rectus surgery on clinical and paraclinical indices in congenital nystagmus. (23479515)
2008
6
Novel mutations in FRMD7 in X-linked congenital nystagmus. (17397053)
2007
7
Memantine/Gabapentin for the treatment of congenital nystagmus. (17764629)
2007
8
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. (17846367)
2007
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
Characteristics of braking saccades in congenital nystagmus. (14661904)
2003
13
Development of new treatments for congenital nystagmus. (11960819)
2002
14
The torsional component of "horizontal" congenital nystagmus. (11937902)
2002
15
The incidence and waveform characteristics of periodic alternating nystagmus in congenital nystagmus. (10509648)
1999
16
Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient. (10068051)
1999
17
Reduced duration of a visual motion aftereffect in congenital nystagmus. (10532412)
1998-1999
18
Visually induced motion perception and visual control of postural sway in congenital nystagmus. (9404625)
1997
19
Congenital nystagmus image motion: influence on visual acuity at different luminances. (9219284)
1997
20
Perception of motion smear in normal observers and in persons with congenital nystagmus. (8550322)
1996
21
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? (7747786)
1995
22
Congenital nystagmus: fine structure of human extraocular muscles. (7715919)
1995
23
Ocular movement during reading in patients with congenital nystagmus. (8749140)
1995
24
Postequatorial horizontal rectus recession in the management of congenital nystagmus. (10576998)
1994
25
Static accommodation in congenital nystagmus. (8425825)
1993
26
Congenital nystagmus cosegregating with a balanced 7;15 translocation. (8326501)
1993
27
Congenital nystagmus: rebound phenomenon following removal of contact lenses. (1390535)
1992
28
Variation of congenital nystagmus with viewing distance. (1300523)
1992
29
Sensitivity to temporal luminance modulation in congenital nystagmus. (1607243)
1992
30
Intermittent oscillopsia in a case of congenital nystagmus. Dependence upon waveform. (1938285)
1991
31
On the variations of the time constant of the slow-phase eye movements produced by surgical therapy of congenital nystagmus: a preliminary report. (2601941)
1989
32
Oscillopsia, retinal image stabilization and congenital nystagmus. (3338885)
1988
33
A study of prismatic treatment of congenital nystagmus by electro-oculogram fixation, pursuit eye movement and optokinetic nystagmus. (3706071)
1986
34
A case of ataxic diplegia, mental retardation, congenital nystagmus and abnormal auditory brain stem responses showing only waves I and II. (3826555)
1986
35
Congenital nystagmus in identical twins: discordant features. (3723292)
1986
36
The elucidation and use of the effect of near fixation in congenital nystagmus. (3822471)
1986
37
Surgical treatment of compensatory head position in congenital nystagmus. (6726562)
1984
38
Corneal topography of humans with congenital nystagmus. (6709367)
1984
39
The nystagmus blockage syndrome. Congenital nystagmus, manifest latent nystagmus, or both? (6654639)
1983
40
Kocher-DebrAc-SAcmAclaigne syndrome and congenital nystagmus. (7111122)
1982
41
Congenital nystagmus. (7356925)
1980
42
The effects of congenital nystagmus surgery. (542244)
1979
43
Congenital nystagmus--genetic and environmental causes. (305814)
1978
44
X-linked congenital nystagmus: a problem in genetic counseling. (1267316)
1976
45
A study of congenital nystagmus: waveforms. (772460)
1976
46
Congenital nystagmus. Report of a rare case of uniocular congenital nystagmus. (4466545)
1974
47
Symposium: nystagmus. Congenital nystagmus surgery. (4710214)
1973
48
Eye movement recordings as a diagnostic tool in a case of congenital nystagmus. (4500610)
1972
49
Congenital nystagmus and hypothyroidism. (5766079)
1969
50
An observational note on eye movement patterns during REM and non-REM sleep in subjects with congenital nystagmus. (5942875)
1966

Genetic Variations for Congenital Nystagmus

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

Search GEO for disease gene expression data for Congenital Nystagmus.

Pathways for genes affiliated with Congenital Nystagmus

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52QIAGEN
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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

Sources:
45Novoseek
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Compounds related to Congenital Nystagmus according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1eumelanin4510.0MC1R, TYRP1
2dopachrome459.8MC1R, TYRP1
3silver459.8RECK, MC1R, TYRP1

GO Terms for genes affiliated with Congenital Nystagmus

Sources:
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:00760210.2CABP4, GNAT2
2retinal cone cell developmentGO:04654910.0GNAT2, CNGA3, CABP4
3melanosome organizationGO:0324389.8TYRP1, GPR143
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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  • Antibodies

Sources for Congenital Nystagmus

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet