MCID: CNG024
MIFTS: 36

Congenital Nystagmus

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Nystagmus

MalaCards integrated aliases for Congenital Nystagmus:

Name: Congenital Nystagmus 12 15 17 72
Nystagmus, Congenital 44
Nystagmus Congenital 55

Classifications:



External Ids:

Disease Ontology 12 DOID:9649
ICD9CM 35 379.51
MeSH 44 D020417
SNOMED-CT 68 64635004
ICD10 33 H55.01
UMLS 72 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 strabismus, 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 testes, and related phenotypes are craniofacial and hearing/vestibular/ear

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 135)
# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 33.2 GPR143 FRMD7
2 strabismus 30.7 TYR GPR143 FRMD7
3 ocular albinism 30.4 TYR OCA2 GPR143
4 ocular motility disease 30.1 GPR143 FRMD7
5 albinism 30.0 TYR OCA2 MC1R GPR143
6 albinism, oculocutaneous, type ii 29.8 TYR OCA2 MC1R
7 oculocutaneous albinism 29.6 TYR OCA2 MC1R
8 isolated foveal hypoplasia 29.6 SLC38A8 PAX6
9 albinism, oculocutaneous, type ia 29.6 TYR PAX6 OCA2
10 aniridia 1 29.4 SLC38A8 PAX6
11 pathologic nystagmus 28.2 TYR SLC38A8 RDX PAX6 OCA2 GPR143
12 split-hand with congenital nystagmus, fundal changes, and cataracts 12.4
13 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.3
14 nystagmus, congenital, autosomal recessive 12.2
15 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.2
16 nystagmus, congenital motor, autosomal recessive 12.2
17 nystagmus 1, congenital, x-linked 11.5
18 split hand split foot nystagmus 11.5
19 x-linked intellectual disability, najm type 11.5
20 nystagmus 2, congenital, autosomal dominant 11.4
21 nystagmus 6, congenital, x-linked 11.4
22 nystagmus 3, congenital, autosomal dominant 11.4
23 nystagmus 4, congenital, autosomal dominant 11.3
24 nystagmus 5, congenital, x-linked 11.3
25 epiphyseal dysplasia, microcephaly, and nystagmus 11.3
26 nystagmus 7, congenital, autosomal dominant 11.3
27 o donnell pappas syndrome 11.2
28 mechanical strabismus 10.5
29 refractive error 10.3
30 astigmatism 10.3
31 myopia 10.3
32 frmd7-related infantile nystagmus 10.3
33 torticollis 10.2
34 albinism, oculocutaneous, type iii 10.2 TYR OCA2
35 suppression amblyopia 10.2
36 amblyopia 10.2
37 achromatopsia 10.2
38 albinism, oculocutaneous, type ib 10.2 TYR OCA2
39 albinism, oculocutaneous, type v 10.2 TYR OCA2
40 acute conjunctivitis 10.1 OCA2 MC1R
41 monocular esotropia 10.1
42 alternating exotropia 10.1
43 exotropia 10.1
44 esotropia 10.1
45 albinism, oculocutaneous, type vii 10.1 TYR OCA2
46 yemenite deaf-blind hypopigmentation syndrome 10.1
47 cone dystrophy 10.1
48 ocular albinism, x-linked 10.1
49 melanocytic nevus syndrome, congenital 10.0 TYR MC1R
50 optic nerve hypoplasia, bilateral 10.0

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 CASK MC1R OCA2 PAX6 TYR
2 hearing/vestibular/ear MP:0005377 9.65 MC1R OCA2 PAX6 RDX TYR
3 integument MP:0010771 9.55 CASK MC1R OCA2 PAX6 TYR
4 pigmentation MP:0001186 9.35 GPR143 MC1R OCA2 PAX6 TYR
5 vision/eye MP:0005391 9.02 CASK GPR143 OCA2 PAX6 TYR

Drugs & Therapeutics for Congenital Nystagmus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus: a Randomized, Double-blind, Placebo-controlled, Single Center, Proof of Concept Study Using a Two-period Cross-over Design Completed NCT00661440 Phase 2 Neramexane mesylate
2 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
3 Long-term Open-label Extension Study to Assess the Safety, Tolerability, and Efficacy of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus Terminated NCT00799942 Phase 2 Neramexane mesylate

Search NIH Clinical Center for Congenital Nystagmus

Cochrane evidence based reviews: nystagmus, congenital

Genetic Tests for Congenital Nystagmus

Anatomical Context for Congenital Nystagmus

MalaCards organs/tissues related to Congenital Nystagmus:

41
Eye, Brain, Testes, Kidney, Fetal Brain, Skin, Bone

Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 638)
# Title Authors PMID Year
1
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 9 38
17516023 2007
2
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 9 38
11520764 2001
3
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 9 38
11214907 2001
4
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 9 38
9931324 1999
5
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. 38
30986449 2019
6
[Ophthalmological evaluation in children referred to a low-vision rehabilitation project of a social assistance agency]. 38
31344189 2019
7
Left ventricular noncompaction in a Para athlete. 38
31090793 2019
8
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. 38
30942644 2019
9
X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review. 38
30890130 2019
10
Case of congenital nystagmus. 38
30242942 2019
11
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. 38
30576400 2019
12
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. 38
30555098 2018
13
Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration. 38
30521779 2018
14
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. 38
30015830 2018
15
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment. 38
28764992 2018
16
Comorbid inner ear disorders in 50 patients with congenital nystagmus. 38
29718589 2018
17
Medical and legal point of view for low-vision patients. 38
29796434 2018
18
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. 38
30090012 2018
19
The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University. 38
30364305 2018
20
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 38
29232904 2017
21
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 38
29186371 2017
22
Topical brinzolamide in congenital nystagmus: A retrospective study. 38
28734565 2017
23
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. 38
29141312 2017
24
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene. 38
28962155 2017
25
A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes. 38
28798362 2017
26
AhR-deficiency as a cause of demyelinating disease and inflammation. 38
28851966 2017
27
Pathological eye movements influence on the recordings of ocular vestibular-evoked myogenic potential. 38
28323487 2017
28
[Ophthalmological rehabilitation of visually impaired children]. 38
27832328 2017
29
GPR143 mutations in Chinese patients with ocular albinism type 1. 38
28339057 2017
30
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 38
28139025 2017
31
Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus. 38
28243423 2017
32
Small-incision lenticule extraction in a patient with congenital nystagmus. 38
28317667 2017
33
Infantile nystagmus: an optometrist's perspective. 38
30214368 2017
34
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. 38
27958203 2016
35
[Clinical characteristics and surgical treatment of idiopathic congenital nystagmus in 224 patients]. 38
27562277 2016
36
Eye movement disorders are an early manifestation of CACNA1A mutations in children. 38
26814174 2016
37
[Nystagmus. Clinical characteristics and therapeutic options]. 38
26936363 2016
38
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. 38
26711119 2016
39
Orthodontic Protocol Using Mini-Implant for Class II Treatment in Patient with Special Needs. 38
27847652 2016
40
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus. 38
27672609 2016
41
Establishing a surgical outreach program in the developing world: pediatric strabismus surgery in Guatemala City, Guatemala. 38
26691031 2015
42
[Efficacy of surgery on congenital nystagmus with convergence damping]. 38
26850587 2015
43
Consequences of chromsome18q deletions. 38
26235940 2015
44
Delayed Diagnosis of Enhancing Posterior Fossa Tumors Mimicking the Tela Choroidea of the Fourth Ventricle. 38
25839397 2015
45
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. 38
26160353 2015
46
ANOMALOUS HEAD POSTURES IN STRABISMUS AND NYSTAGMUS DIAGNOSIS AND MANAGEMENT. 38
26978880 2015
47
Deep intronic GPR143 mutation in a Japanese family with ocular albinism. 38
26061757 2015
48
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. 38
25916882 2015
49
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. 38
25555363 2015
50
The association between macular thickness and peripapillary retinal nerve fiber layer thickness in Chinese children. 38
25715254 2015

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 TYR OCA2

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 TYR OCA2 GPR143

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 TYR PAX6 GPR143
2 pigmentation GO:0043473 9.33 TYR OCA2 MC1R
3 melanin biosynthetic process GO:0042438 9.13 TYR OCA2 MC1R
4 eye pigment biosynthetic process GO:0006726 8.8 TYR OCA2 GPR143

Sources for Congenital Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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