MCID: CNG024
MIFTS: 35

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 71
Nystagmus, Congenital 43
Nystagmus Congenital 54

Classifications:



External Ids:

Disease Ontology 12 DOID:9649
ICD9CM 34 379.51
MeSH 43 D020417
SNOMED-CT 67 64635004
ICD10 32 H55.01
UMLS 71 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, 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 pigmentation and vision/eye

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 Frmd7-Related Infantile Nystagmus

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 33.3 GPR143 FRMD7
2 albinism 30.9 TYR OCA2 MC1R GPR143
3 astigmatism 30.8 GPR143 FRMD7 CRYAA
4 albinism, oculocutaneous, type ii 30.5 TYR OCA2 MC1R
5 ocular albinism 30.4 TYR RECK OCA2 GPR143 FRMD7
6 oculocutaneous albinism 30.3 TYR OCA2 MC1R
7 esotropia 30.3 PAX6 JRK CRYAA
8 dissociated nystagmus 30.2 JRK FRMD7
9 albinism, oculocutaneous, type ia 30.1 TYR OCA2 GPR143
10 strabismus 30.1 TYR PAX6 JRK GPR143 FRMD7 CRYAA
11 myopia 30.0 TYR PAX6 CRYAA CNGB3
12 exotropia 30.0 JRK CRYAA
13 isolated foveal hypoplasia 29.9 SLC38A8 PAX6
14 aniridia 1 29.7 SLC38A8 PAX6 FRMD7 CRYAA
15 achromatopsia 29.6 SLC38A8 FRMD7 CRYAA CNGB3
16 fundus dystrophy 29.4 PAX6 FRMD7 CRYAA CNGB3
17 eye disease 29.0 TYR PAX6 GJA8 CRYAA CNGB3
18 macular degeneration, age-related, 1 29.0 TYR PAX6 CRYAA CNGB3
19 ocular motility disease 29.0 PAX6 JRK GPR143 FRMD7 CRYZL1 CRYAA
20 pathologic nystagmus 26.7 TYR SLC38A8 RDX PAX6 OCA2 JRK
21 split-hand with congenital nystagmus, fundal changes, and cataracts 12.4
22 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.3
23 nystagmus, congenital, autosomal recessive 12.2
24 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.2
25 nystagmus, congenital motor, autosomal recessive 12.2
26 split hand split foot nystagmus 11.5
27 nystagmus 1, congenital, x-linked 11.5
28 x-linked intellectual disability, najm type 11.5
29 nystagmus 2, congenital, autosomal dominant 11.4
30 nystagmus 6, congenital, x-linked 11.4
31 nystagmus 3, congenital, autosomal dominant 11.4
32 nystagmus 4, congenital, autosomal dominant 11.3
33 nystagmus 5, congenital, x-linked 11.3
34 epiphyseal dysplasia, microcephaly, and nystagmus 11.3
35 nystagmus 7, congenital, autosomal dominant 11.3
36 o donnell pappas syndrome 11.2
37 mechanical strabismus 10.5
38 albinism, oculocutaneous, type vii 10.4 OCA2 GPR143
39 acute contagious conjunctivitis 10.4 TYR OCA2
40 acute conjunctivitis 10.4 TYR OCA2
41 refractive error 10.3
42 cataract 9, multiple types 10.3 GJA8 CRYAA
43 ochronosis 10.3 TYR CRYAA
44 nodular malignant melanoma 10.3 TYR MC1R
45 cataract microcornea syndrome 10.3 GJA8 CRYAA
46 chorea gravidarum 10.3 OCA2 JRK
47 albinism, oculocutaneous, type v 10.3 TYR OCA2 GPR143
48 albinism, oculocutaneous, type ib 10.3 TYR OCA2 GPR143
49 albinism, oculocutaneous, type iii 10.3 TYR OCA2 GPR143
50 frmd7-related infantile nystagmus 10.3

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 GPR143 MC1R OCA2 PAX6 TYR
2 vision/eye MP:0005391 9.23 CASK CNGB3 FARP1 GJA8 GPR143 OCA2

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:

40
Eye, Brain, Testes, Kidney, Fetal Brain, Bone, Skin

Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 650)
# 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. 54 61
17516023 2007
2
Deletion in the OA1 gene in a family with congenital X linked nystagmus. 54 61
11520764 2001
3
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. 54 61
11214907 2001
4
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 54 61
9931324 1999
5
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. 61
31782039 2020
6
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32032626 2020
7
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 61
31896775 2020
8
Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons. 61
31743612 2019
9
Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. 61
31800741 2019
10
Reply to: Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. 61
31800743 2019
11
Foveation dynamics in congenital nystagmus IV: vergence. 61
31776760 2019
12
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 61
31587869 2019
13
Cerebral visual impairment is a major cause of profound visual impairment in children aged less than 3 years: A study from tertiary eye care center in South India. 61
31546477 2019
14
Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells. 61
31513577 2019
15
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. 61
31519934 2019
16
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. 61
30986449 2019
17
[Ophthalmological evaluation in children referred to a low-vision rehabilitation project of a social assistance agency]. 61
31344189 2019
18
Left ventricular noncompaction in a Para athlete. 61
31090793 2019
19
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. 61
30942644 2019
20
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. 61
30890130 2019
21
Case of congenital nystagmus. 61
30242942 2019
22
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. 61
30576400 2019
23
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. 61
31638560 2019
24
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. 61
30555098 2018
25
Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration. 61
30521779 2018
26
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. 61
30015830 2018
27
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment. 61
28764992 2018
28
Comorbid inner ear disorders in 50 patients with congenital nystagmus. 61
29718589 2018
29
Medical and legal point of view for low-vision patients. 61
29796434 2018
30
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. 61
30090012 2018
31
The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University. 61
30364305 2018
32
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 61
29232904 2017
33
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 61
29186371 2017
34
Topical brinzolamide in congenital nystagmus: A retrospective study. 61
28734565 2017
35
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. 61
29141312 2017
36
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene. 61
28962155 2017
37
AhR-deficiency as a cause of demyelinating disease and inflammation. 61
28851966 2017
38
Pathological eye movements influence on the recordings of ocular vestibular-evoked myogenic potential. 61
28323487 2017
39
A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes. 61
28798362 2017
40
[Ophthalmological rehabilitation of visually impaired children]. 61
27832328 2017
41
GPR143 mutations in Chinese patients with ocular albinism type 1. 61
28339057 2017
42
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. 61
28139025 2017
43
Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus. 61
28243423 2017
44
Small-incision lenticule extraction in a patient with congenital nystagmus. 61
28317667 2017
45
Infantile nystagmus: an optometrist's perspective. 61
30214368 2017
46
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. 61
27958203 2016
47
[Clinical characteristics and surgical treatment of idiopathic congenital nystagmus in 224 patients]. 61
27562277 2016
48
Eye movement disorders are an early manifestation of CACNA1A mutations in children. 61
26814174 2016
49
[Nystagmus. Clinical characteristics and therapeutic options]. 61
26936363 2016
50
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. 61
26711119 2016

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 9.55 TYR PAX6 GPR143 CRYAA CNGB3
2 pigmentation GO:0043473 9.43 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

Molecular functions related to Congenital Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.13 RDX FARP2 FARP1
2 Rac guanyl-nucleotide exchange factor activity GO:0030676 8.8 FRMD7 FARP2 FARP1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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