MCID: CNG024
MIFTS: 40

Congenital Nystagmus malady

Categories: Neuronal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Nystagmus

Aliases & Descriptions for Congenital Nystagmus:

Name: Congenital Nystagmus 12 29 14 69
Nystagmus, Congenital 42
Nystagmus Congenital 52

Classifications:



External Ids:

Disease Ontology 12 DOID:9649
ICD10 33 H55.01
ICD9CM 35 379.51
MeSH 42 D020417
UMLS 69 C0700501

Summaries for Congenital Nystagmus

Disease Ontology : 12 A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.

MalaCards based summary : Congenital Nystagmus, also known as nystagmus, congenital, is related to hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response and split-hand with congenital nystagmus, fundal changes, and cataracts, and has symptoms including deficiencies of smooth pursuit movements An important gene associated with Congenital Nystagmus is FRMD7 (FERM Domain Containing 7), and among its related pathways/superpathways is Melanin biosynthesis. The drugs Clonidine and Tropicamide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skin, and related phenotypes are craniofacial and hearing/vestibular/ear

Related Diseases for Congenital Nystagmus

Diseases in the Congenital Nystagmus family:

Nystagmus 7, Congenital, Autosomal Dominant Nystagmus 2, Congenital, Autosomal Dominant
Nystagmus 3, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant
Frmd7-Related Infantile Nystagmus

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.9
2 split-hand with congenital nystagmus, fundal changes, and cataracts 11.8
3 nystagmus, congenital motor, autosomal recessive 11.8
4 nystagmus 6, congenital, x-linked 11.3
5 nystagmus 1, congenital, x-linked 10.9
6 o donnell pappas syndrome 10.8
7 split hand split foot nystagmus 10.8
8 x-linked infantile nystagmus 10.8
9 nystagmus 7, congenital, autosomal dominant 10.6
10 nystagmus 2, congenital, autosomal dominant 10.6
11 nystagmus 3, congenital, autosomal dominant 10.6
12 nystagmus 4, congenital, autosomal dominant 10.6
13 nystagmus 5, congenital, x-linked 10.6
14 autosomal recessive congenital stationary night blindness 10.2 FRMD7 GPR143
15 hypogonadotropic hypogonadism 1 with or without anosmia 10.2 GPR143 TYR
16 pyloric stenosis, infantile hypertrophic, 3 10.1 OCA2 TYR
17 chronic lacrimal gland enlargement 10.1 FRMD7 GPR143
18 peters anomaly 10.1 PAX6 TYR
19 short-rib thoracic dysplasia 1 with or without polydactyly 10.1 MC1R OCA2
20 pseudomembranous conjunctivitis 10.1 MC1R OCA2
21 focal facial dermal dysplasia 4 10.0 OCA2 TYR
22 neurocutaneous melanosis, somatic 10.0 MC1R TYR
23 arterial calcification of infancy 10.0 GPR143 OCA2 TYR
24 aicardi-goutieres syndrome 6 10.0 OCA2 TYR
25 urinary bladder villous adenoma 10.0 FRMD7 GPR143
26 alpha chain disease 10.0 MC1R TYR
27 retinitis 10.0
28 small intestine diverticulitis 9.9 MC1R OCA2 TYR
29 albinism 9.9
30 anauxetic dysplasia 1 9.9 MC1R OCA2 TYR
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.9 MC1R OCA2 TYR
32 acute erythroid leukemia 9.9 CNGA3 FRMD7 SLC38A8
33 astigmatism 9.7
34 hypothyroidism 9.7
35 hypotonia 9.7
36 spasmus nutans 9.7
37 strabismus 9.7
38 refractive error 9.7
39 hemimegalencephaly 9.6
40 achromatopsia 9.6
41 ocular albinism 9.6
42 leukonychia totalis 9.6
43 multiple epiphyseal dysplasia 9.6
44 visual pathway disease 9.6
45 vestibular nystagmus 9.6
46 weber syndrome 9.6
47 down syndrome 9.6
48 klippel-trenaunay-weber syndrome 9.6
49 ataxia 9.6
50 aniridia 9.6

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



Diseases related to Congenital Nystagmus

Symptoms & Phenotypes for Congenital Nystagmus

UMLS symptoms related to Congenital Nystagmus:


deficiencies of smooth pursuit movements

MGI Mouse Phenotypes related to Congenital Nystagmus:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.56 MC1R OCA2 PAX6 TYR
2 hearing/vestibular/ear MP:0005377 9.46 MC1R OCA2 PAX6 TYR
3 pigmentation MP:0001186 9.35 GPR143 MC1R OCA2 PAX6 TYR
4 vision/eye MP:0005391 9.02 CNGA3 GPR143 OCA2 PAX6 TYR

Drugs & Therapeutics for Congenital Nystagmus

Drugs for Congenital Nystagmus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved 4205-90-7 2803
2
Tropicamide Approved 1508-75-4 5593
3
Menthol Approved 2216-51-5 16666
4
4-Aminopyridine Approved 504-24-5 1727
5 Mydriatics
6 Adrenocorticotropic Hormone
7 Corticotropin-Releasing Hormone
8 Hormone Antagonists
9 Anesthetics
10 Hormones
11 Hormones, Hormone Substitutes, and Hormone Antagonists
12 Immunoglobulins
13 Antibodies
14 Potassium Channel Blockers
15 3,4-diaminopyridine
16 arginine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
2 Efficacy and Safety Study of Neramexane to Treat Congenital and Acquired Nystagmus Completed NCT00661440 Phase 2
3 Open-lable Extension Study on Safety and Efficacy of Neramexane to Treat Congenital and Acquired Nystagmus Terminated NCT00799942 Phase 2
4 Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
5 Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy Completed NCT00422721
6 Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia Completed NCT00265590
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Chromosome 18 Clinical Research Center Recruiting NCT00227253
9 Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients Available NCT02189720

Search NIH Clinical Center for Congenital Nystagmus

Cochrane evidence based reviews: nystagmus, congenital

Genetic Tests for Congenital Nystagmus

Genetic tests related to Congenital Nystagmus:

id Genetic test Affiliating Genes
1 Congenital Nystagmus 29

Anatomical Context for Congenital Nystagmus

MalaCards organs/tissues related to Congenital Nystagmus:

39
Eye, Brain, Skin

Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 270)
id Title Authors Year
1
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. ( 28139025 )
2017
2
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus. ( 27672609 )
2016
3
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. ( 27958203 )
2016
4
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. ( 26711119 )
2016
5
A FRMD7 variant in a Japanese family causes congenital nystagmus. ( 27081518 )
2015
6
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. ( 25916882 )
2015
7
Congenital nystagmus and central hypothyroidism. ( 25780367 )
2015
8
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. ( 25555363 )
2015
9
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. ( 26160353 )
2015
10
Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus. ( 24434814 )
2014
11
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus. ( 24169426 )
2013
12
Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy. ( 23822191 )
2013
13
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. ( 23946638 )
2013
14
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
15
Astigmatism in patients with idiopathic congenital nystagmus. ( 23456100 )
2013
16
Is it possible to measure peripheral vestibular function in a patient with congenital nystagmus? ( 21898086 )
2012
17
A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. ( 22262942 )
2012
18
Components of the neural signal underlying congenital nystagmus. ( 22644237 )
2012
19
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. ( 21423867 )
2011
20
Spectral-domain optical coherence tomography in patients with congenital nystagmus. ( 22553733 )
2011
21
Artiflex toric phakic intraocular lens implantation in congenital nystagmus. ( 21941505 )
2011
22
Congenital nystagmus and negative electroretinography. ( 21573087 )
2011
23
Cerebellar and visual gray matter brain volume increases in congenital nystagmus. ( 21994501 )
2011
24
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. ( 22065930 )
2011
25
Effects of visual processing and congenital nystagmus on visually guided ocular motor behaviour. ( 21166674 )
2011
26
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. ( 21541274 )
2011
27
Waveform type evaluation in congenital nystagmus. ( 20356647 )
2010
28
Visual electrophysiology in congenital nystagmus with normal fundus. ( 19253798 )
2009
29
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. ( 19390656 )
2009
30
Effect of horizontal rectus surgery on clinical and paraclinical indices in congenital nystagmus. ( 23479515 )
2008
31
Reduction of congenital nystagmus in a patient after smoking cannabis. ( 18306120 )
2008
32
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. ( 18523664 )
2008
33
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. ( 18246032 )
2008
34
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. ( 19072571 )
2008
35
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. ( 17279539 )
2007
36
Novel mutations in FRMD7 in X-linked congenital nystagmus. ( 17397053 )
2007
37
Laser ablation in eyes with congenital nystagmus. ( 17598584 )
2007
38
Isolated absence of the optic chiasm: a rare cause of congenital nystagmus. ( 17297021 )
2007
39
Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families. ( 19513281 )
2007
40
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. ( 17516023 )
2007
41
Memantine/Gabapentin for the treatment of congenital nystagmus. ( 17764629 )
2007
42
Changes in astigmatism in children with congenital nystagmus. ( 16362319 )
2006
43
The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study. ( 16556621 )
2006
44
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. ( 17013395 )
2006
45
Nonlinear time series analysis of jerk congenital nystagmus. ( 16732490 )
2006
46
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. ( 16754205 )
2006
47
Visual and perceptual consequences of congenital nystagmus. ( 16702076 )
2006
48
Laser in situ keratomileusis in myopic patients with congenital nystagmus. ( 16631059 )
2006
49
Oculomotor instabilities in zebrafish mutant belladonna: a behavioral model for congenital nystagmus caused by axonal misrouting. ( 17005851 )
2006
50
Beating the beat: reading can be faster than the frequency of eye movements in persons with congenital nystagmus. ( 16909075 )
2006

Variations for Congenital Nystagmus

Expression for Congenital Nystagmus

Search GEO for disease gene expression data for Congenital Nystagmus.

Pathways for Congenital Nystagmus

Pathways related to Congenital Nystagmus according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 9.32 OCA2 TYR

GO Terms for Congenital Nystagmus

Cellular components related to Congenital Nystagmus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.8 GPR143 OCA2 TYR

Biological processes related to Congenital Nystagmus according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.56 CNGA3 GPR143 PAX6 TYR
2 pigmentation GO:0043473 9.33 MC1R OCA2 TYR
3 response to cAMP GO:0051591 9.32 CNGA3 TYR
4 melanin biosynthetic process GO:0042438 9.13 MC1R OCA2 TYR
5 eye pigment biosynthetic process GO:0006726 8.8 GPR143 OCA2 TYR

Sources for Congenital Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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