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, 60UMLS, 44Novoseek, 34MeSH, 56SNOMED-CT, 27ICD9CM
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Aliases & Descriptions:

congenital nystagmus 8 10 60
nystagmus congenital 44


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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
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. (23946638)
2013
2
Components of the neural signal underlying congenital nystagmus. (22644237)
2012
3
Spectral-domain optical coherence tomography in patients with congenital nystagmus. (22553733)
2011
4
Congenital achiasma and see-saw nystagmus in VACTERL syndrome. (20182207)
2010
5
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. (19048299)
2009
6
Reduction of congenital nystagmus in a patient after smoking cannabis. (18306120)
2008
7
Nystagmus characteristics in congenital stationary night blindness (CSNB). (18227204)
2008
8
Laser ablation in eyes with congenital nystagmus. (17598584)
2007
9
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. (17768376)
2007
10
Visual electrophysiological screening in diagnosing infants with congenital nystagmus. (14744589)
2004
11
Horizontal rectus tenotomy in patients with congenital nystagmus: results in 10 adults. (14597515)
2003
12
Effects of tenotomy surgery on congenital nystagmus waveforms in adult patients. Part II. Dynamical systems analysis. (12962992)
2003
13
Eye movement baseline oscillation and variability of eye position during foveation in congenital nystagmus. (14661903)
2003
14
Laser in situ keratomileusis in a patient with congenital nystagmus. (11973106)
2002
15
Clinical and oculographic response to Tenuate Dospan (diethylpropionate) in a patient with congenital nystagmus. (11755862)
2002
16
Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus. (12381992)
2002
17
Characterisation of congenital nystagmus waveforms in terms of periodic orbits. (12169431)
2002
18
Effects of extraocular muscle tenotomy on congenital nystagmus in macaque monkeys. (12381997)
2002
19
Periodic alternating nystagmus and congenital nystagmus: similarities in possibly inherited cases. (10654319)
2000
20
Reduction of congenital nystagmus amplitude with auditory biofeedback. (11040478)
2000
21
Relationship between visual acuity and eye position variability during foveations in congenital nystagmus. (11128969)
2000
22
A new surgery for congenital nystagmus: effects of tenotomy on an achiasmatic canine and the role of extraocular proprioception. (10428591)
1999
23
The effect of abnormal fixational eye movements upon visual acuity in congenital nystagmus. (10342374)
1999
24
The role of vision on postural strategy evaluated in patients affected by congenital nystagmus as an experimental model. (10639029)
1999
25
Oscillopsia and tolerance to retinal image movement in congenital nystagmus. (9950591)
1999
26
Clinical and ocular motor analysis of congenital nystagmus in infancy. (10221798)
1999
27
Extraocular muscle tenotomy, dissection, and suture: a hypothetical therapy for congenital nystagmus. (9713798)
1998
28
A gene for autosomal dominant congenital nystagmus localizes to 6p12. (8661013)
1996
29
Congenital nystagmus: fine structure of human extraocular muscles. (8599162)
1995
30
Foveation dynamics in congenital nystagmus. III: Vestibulo-ocular reflex. (1568422)
1992
31
Surgery and compensatory head postures in congenital nystagmus. A longitudinal study. (1580838)
1992
32
Results of surgery to modify the null-zone position in congenital nystagmus. (1889025)
1991
33
The nature of head postures in congenital nystagmus. (1993030)
1991
34
Developmental disabilities associated with congenital nystagmus. (1719034)
1991
35
Quick phase programming and saccadic re-orientation in congenital nystagmus. (1767500)
1991
36
Torsional Kestenbaum in congenital nystagmus with torticollis. (2387605)
1990
37
Unilateral pursuit-induced congenital nystagmus. (2927651)
1989
38
Retinal slip velocities in congenital nystagmus. (2800347)
1989
39
Fast-phase instabilities in normally sighted relatives of congenital nystagmus patients--autosomal dominant and x-chromosome recessive modes of inheritance. (3244412)
1988
40
Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus. (3978843)
1985
41
Albinotic characteristics in congenital nystagmus. (6742074)
1984
42
Visual acuity and motor characteristics in congenital nystagmus. (6859182)
1983
43
Observations on optokinetic nystagmus in patients with congenital nystagmus. (6784068)
1981
44
Surgery of congenital nystagmus. (6964266)
1981
45
Spasmus nutans or congenital nystagmus? Classification according to objective criteria. (7260026)
1981
46
Latent, manifest latent, and congenital nystagmus. (485910)
1979
47
Fixation characteristics in hereditary congenital nystagmus. (4511863)
1973
48
Hereditary studies of congenital nystagmus in a Swedish population. (5159529)
1971
49
The Visual Prognosis for Children with Congenital Nystagmus: A Statistical Study. (16693023)
1934
50
CONGENITAL NYSTAGMUS. (20771952)
1925

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

Search GEO for disease gene expression data for Congenital Nystagmus.

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