MCID: CNG024
MIFTS: 40

Congenital Nystagmus

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Congenital Nystagmus

MalaCards integrated aliases for Congenital Nystagmus:

Name: Congenital Nystagmus 12 28 14 69
Nystagmus, Congenital 41
Nystagmus Congenital 51

Classifications:



External Ids:

Disease Ontology 12 DOID:9649
ICD10 32 H55.01
ICD9CM 34 379.51
MeSH 41 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 x-linked infantile nystagmus and albinism, ocular, type i, 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. Affiliated tissues include eye, brain and skin, and related phenotypes are cellular and craniofacial

Related Diseases for Congenital Nystagmus

Diseases in the Congenital Nystagmus family:

Nystagmus 2, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant
Nystagmus, Congenital, Autosomal Recessive Nystagmus 3, Congenital, Autosomal Dominant
Nystagmus 7, Congenital, Autosomal Dominant

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 31.9 FRMD7 GPR143
2 albinism, ocular, type i 30.1 GPR143 TYR
3 astigmatism 30.1 FRMD7 GPR143
4 albinism 29.9 GPR143 OCA2 TYR
5 ocular albinism 29.4 GPR143 OCA2 TYR
6 strabismus 29.1 FRMD7 GPR143 TUBB3 TYR
7 aniridia 1 28.9 PAX6 SLC38A8
8 split-hand with congenital nystagmus, fundal changes, and cataracts 12.1
9 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.0
10 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.0
11 nystagmus, congenital, autosomal recessive 11.9
12 nystagmus, congenital motor, autosomal recessive 11.9
13 nystagmus 1, congenital, x-linked 11.2
14 split hand split foot nystagmus 11.2
15 o donnell pappas syndrome 10.9
16 nystagmus 2, congenital, autosomal dominant 10.7
17 nystagmus 4, congenital, autosomal dominant 10.7
18 nystagmus 5, congenital, x-linked 10.7
19 nystagmus 6, congenital, x-linked 10.7
20 nystagmus 3, congenital, autosomal dominant 10.7
21 nystagmus 7, congenital, autosomal dominant 10.7
22 hermansky-pudlak syndrome 1 10.1 OCA2 TYR
23 albinism, oculocutaneous, type ii 10.1 MC1R OCA2
24 acute conjunctivitis 10.1 MC1R OCA2
25 hypotropia 10.1 FRMD7 TUBB3
26 melanocytic nevus syndrome, congenital 10.1 MC1R TYR
27 congenital ptosis 10.1 PAX6 TUBB3
28 retinitis 10.0
29 keratopathy 10.0 PAX6 TUBB3
30 poland syndrome 10.0 PAX6 TUBB3
31 dyschromatosis symmetrica hereditaria 10.0 OCA2 TYR
32 lentigines 10.0 MC1R TYR
33 cranial nerve disease 10.0 FRMD7 TUBB3
34 ocular motility disease 9.9 FRMD7 GPR143 TUBB3
35 integumentary system cancer 9.9 MC1R TYR
36 acute contagious conjunctivitis 9.8 MC1R OCA2 TYR
37 torticollis 9.8
38 hypothyroidism 9.8
39 refractive error 9.8
40 hypotonia 9.8
41 spasmus nutans 9.8
42 oculocutaneous albinism 9.7 OCA2 TYR
43 blood group, i system 9.7
44 dilution, pigmentary 9.7
45 klippel-trenaunay-weber syndrome 9.7
46 nail disorder, nonsyndromic congenital, 3 9.7
47 down syndrome 9.7
48 epiphyseal dysplasia, microcephaly, and nystagmus 9.7
49 fragile x syndrome 9.7
50 ifap syndrome with or without bresheck syndrome 9.7

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 CASK MC1R OCA2 PAX6 TUBB3 TYR
2 craniofacial MP:0005382 9.8 CASK MC1R OCA2 PAX6 TYR WDPCP
3 hearing/vestibular/ear MP:0005377 9.65 PAX6 TYR WDPCP MC1R OCA2
4 limbs/digits/tail MP:0005371 9.55 CASK MC1R OCA2 TYR WDPCP
5 pigmentation MP:0001186 9.35 GPR143 MC1R OCA2 PAX6 TYR
6 vision/eye MP:0005391 9.1 CASK GPR143 OCA2 PAX6 TYR WDPCP

Drugs & Therapeutics for Congenital Nystagmus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2

Search NIH Clinical Center for Congenital Nystagmus

Cochrane evidence based reviews: nystagmus, congenital

Genetic Tests for Congenital Nystagmus

Genetic tests related to Congenital Nystagmus:

# Genetic test Affiliating Genes
1 Congenital Nystagmus 28

Anatomical Context for Congenital Nystagmus

MalaCards organs/tissues related to Congenital Nystagmus:

38
Eye, Brain, Skin

Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 273)
# Title Authors Year
1
Topical brinzolamide in congenital nystagmus: A retrospective study. ( 28734565 )
2017
2
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. ( 28139025 )
2017
3
Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus. ( 28243423 )
2017
4
Small-incision lenticule extraction in a patient with congenital nystagmus. ( 28317667 )
2017
5
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. ( 27958203 )
2016
6
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. ( 26711119 )
2016
7
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus. ( 27672609 )
2016
8
Congenital nystagmus and central hypothyroidism. ( 25780367 )
2015
9
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. ( 25555363 )
2015
10
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. ( 26160353 )
2015
11
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. ( 25916882 )
2015
12
A FRMD7 variant in a Japanese family causes congenital nystagmus. ( 27081518 )
2015
13
Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus. ( 24434814 )
2014
14
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. ( 23946638 )
2013
15
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
16
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus. ( 24169426 )
2013
17
Astigmatism in patients with idiopathic congenital nystagmus. ( 23456100 )
2013
18
Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy. ( 23822191 )
2013
19
Is it possible to measure peripheral vestibular function in a patient with congenital nystagmus? ( 21898086 )
2012
20
A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. ( 22262942 )
2012
21
Components of the neural signal underlying congenital nystagmus. ( 22644237 )
2012
22
Effects of visual processing and congenital nystagmus on visually guided ocular motor behaviour. ( 21166674 )
2011
23
Artiflex toric phakic intraocular lens implantation in congenital nystagmus. ( 21941505 )
2011
24
Spectral-domain optical coherence tomography in patients with congenital nystagmus. ( 22553733 )
2011
25
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. ( 21541274 )
2011
26
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. ( 22065930 )
2011
27
Congenital nystagmus and negative electroretinography. ( 21573087 )
2011
28
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. ( 21423867 )
2011
29
Cerebellar and visual gray matter brain volume increases in congenital nystagmus. ( 21994501 )
2011
30
Waveform type evaluation in congenital nystagmus. ( 20356647 )
2010
31
Visual electrophysiology in congenital nystagmus with normal fundus. ( 19253798 )
2009
32
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. ( 19390656 )
2009
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
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. ( 18523664 )
2008
36
Effect of horizontal rectus surgery on clinical and paraclinical indices in congenital nystagmus. ( 23479515 )
2008
37
Reduction of congenital nystagmus in a patient after smoking cannabis. ( 18306120 )
2008
38
Memantine/Gabapentin for the treatment of congenital nystagmus. ( 17764629 )
2007
39
Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families. ( 19513281 )
2007
40
Novel mutations in FRMD7 in X-linked congenital nystagmus. ( 17397053 )
2007
41
Isolated absence of the optic chiasm: a rare cause of congenital nystagmus. ( 17297021 )
2007
42
Laser ablation in eyes with congenital nystagmus. ( 17598584 )
2007
43
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. ( 17279539 )
2007
44
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. ( 17516023 )
2007
45
Changes in astigmatism in children with congenital nystagmus. ( 16362319 )
2006
46
Beating the beat: reading can be faster than the frequency of eye movements in persons with congenital nystagmus. ( 16909075 )
2006
47
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. ( 16754205 )
2006
48
Nonlinear time series analysis of jerk congenital nystagmus. ( 16732490 )
2006
49
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. ( 17013395 )
2006
50
Visual and perceptual consequences of congenital nystagmus. ( 16702076 )
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:

# 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.43 GPR143 PAX6 TYR
2 smoothened signaling pathway GO:0007224 9.37 PAX6 WDPCP
3 camera-type eye development GO:0043010 9.32 PAX6 WDPCP
4 melanin biosynthetic process GO:0042438 9.16 OCA2 TYR
5 pigmentation GO:0043473 9.13 MC1R OCA2 TYR
6 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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