MCID: CNG024
MIFTS: 35

Congenital Nystagmus

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Nystagmus

MalaCards integrated aliases for Congenital Nystagmus:

Name: Congenital Nystagmus 12 6 15 17 70
Nystagmus, Congenital 44
Nystagmus Congenital 54

Classifications:



External Ids:

Disease Ontology 12 DOID:9649
ICD9CM 34 379.51
MeSH 44 D020417
SNOMED-CT 67 155205009
ICD10 32 H55.01
UMLS 70 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 nystagmus 5, congenital, x-linked and congenital nystagmus 1, 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, fetal brain and brain, 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 Congenital Nystagmus 1
Frmd7-Related Infantile Nystagmus

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 nystagmus 5, congenital, x-linked 32.8 GPR143 FRMD7
2 congenital nystagmus 1 32.6 GPR143 FRMD7
3 x-linked infantile nystagmus 32.5 GPR143 FRMD7
4 nystagmus 3, congenital, autosomal dominant 32.0 SLC38A8 NYS3 GPR143 FRMD7 FARP1
5 nystagmus 4, congenital, autosomal dominant 31.9 TYR SLC38A8 PAX6 GPR143 FRMD7 FARP1
6 nystagmus 7, congenital, autosomal dominant 31.9 TYR SLC38A8 PAX6 GPR143 FRMD7 FARP1
7 nystagmus 2, congenital, autosomal dominant 31.7 TYR SLC38A8 PAX6 NYS2 GPR143 FRMD7
8 nystagmus 6, congenital, x-linked 31.4 TYR SLC38A8 RDX PAX6 OCA2 MC1R
9 albinism 30.9 TYR OCA2 MC1R GPR143
10 astigmatism 30.7 GPR143 FRMD7 CRYAA
11 strabismus 30.6 TYR PAX6 GPR143 FRMD7 CRYAA
12 esotropia 30.5 PAX6 FRMD7 CRYAA
13 amblyopia 30.4 PAX6 GJA8 CRYAA
14 ocular albinism 30.4 TYR RECK OCA2 GPR143 FRMD7
15 isolated foveal hypoplasia 30.2 SLC38A8 PAX6
16 oculocutaneous albinism 30.2 TYR OCA2 MC1R
17 albinism, oculocutaneous, type ii 30.2 TYR OCA2 MC1R
18 albinism, oculocutaneous, type ia 30.0 TYR OCA2 GPR143
19 aniridia 1 29.9 SLC38A8 PAX6 GJA8 FRMD7 CRYAA
20 albinism, oculocutaneous, type ib 29.8 TYR OCA2 MC1R GPR143
21 anterior segment dysgenesis 29.7 SLC38A8 PAX6 GJA8 CRYAA
22 ocular motility disease 29.6 SLC38A8 PAX6 GPR143 FRMD7 CRYAA
23 myopia 29.5 TYR PAX6 CRYAA CNGB3
24 achromatopsia 29.0 SLC38A8 PAX6 GPR143 FRMD7 CRYAA CNGB3
25 fundus dystrophy 28.4 RNU4ATAC PAX6 FRMD7 CRYAA CNGB3 CNGA3
26 eye disease 28.2 TYR RNU4ATAC PAX6 GJA8 CRYAA CNGB3
27 pathologic nystagmus 28.1 TYR TMEM63A SLC38A8 RNU4ATAC RDX PAX6
28 nystagmus, congenital, autosomal recessive 11.2
29 split-hand with congenital nystagmus, fundal changes, and cataracts 11.2
30 nystagmus 1, congenital, x-linked 11.1
31 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.1
32 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 11.1
33 split hand split foot nystagmus 11.0
34 o donnell pappas syndrome 11.0
35 x-linked intellectual disability, najm type 11.0
36 lowry-wood syndrome 10.9
37 leukodystrophy, hypomyelinating, 19, transient infantile 10.9
38 mechanical strabismus 10.5
39 developmental defect of the eye 10.4 SLC38A8 PAX6
40 refractive error 10.3
41 frmd7-related infantile nystagmus 10.3
42 acute contagious conjunctivitis 10.3 TYR OCA2
43 acute conjunctivitis 10.3 TYR OCA2
44 albinism, oculocutaneous, type v 10.2 TYR OCA2 GPR143
45 congenital aphakia 10.2 PAX6 CRYAA
46 albinism, oculocutaneous, type vii 10.2 TYR OCA2 GPR143
47 torticollis 10.2
48 immature cataract 10.2 GJA8 CRYAA
49 mature cataract 10.2 GJA8 CRYAA
50 cataract 9, multiple types 10.2 GJA8 CRYAA

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 pigmentation MP:0001186 9.35 GPR143 MC1R OCA2 PAX6 TYR
2 vision/eye MP:0005391 9.32 CASK CNGA3 CNGB3 FARP1 FRMD7 GJA8

Drugs & Therapeutics for Congenital Nystagmus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
2 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
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, Fetal Brain, Brain, Kidney

Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 665)
# 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. 61 54
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. 61 54
11214907 2001
4
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 61 54
9931324 1999
5
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. 61
33691579 2021
6
Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations. 61
33342761 2021
7
Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. 61
33594928 2021
8
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus. 61
33732697 2021
9
Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report. 61
33727856 2021
10
Bilateral Macular Myelinated Retinal Nerve Fibers and Congenital Nystagmus. 61
33097110 2020
11
50 Years Ago in The Journal of Pediatrics: The Cause of Spasmus Nutans and Congenital Nystagmus: Frozen in Time. 61
32711744 2020
12
Re: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32522480 2020
13
Congenital third cranial nerve palsy with prenuclear dysinnervation involving otolithic pathways: Underpinnings of a novel congenital cranial dysinnervation disorder. 61
32587205 2020
14
Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus. 61
32503054 2020
15
Foveation dynamics in congenital nystagmus IV: vergence. 61
31776760 2020
16
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 61
31896775 2020
17
Congenital Nystagmus and Its Congeners. 61
32397854 2020
18
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32032626 2020
19
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. 61
31782039 2020
20
Impaired DNA-binding affinity of novel PAX6 mutations. 61
32080308 2020
21
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus. 61
33251218 2020
22
Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons. 61
31743612 2019
23
Reply to: Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. 61
31800743 2019
24
Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. 61
31800741 2019
25
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. 61
31587869 2019
26
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
27
Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells. 61
31513577 2019
28
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. 61
31519934 2019
29
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. 61
30986449 2019
30
[Ophthalmological evaluation in children referred to a low-vision rehabilitation project of a social assistance agency]. 61
31344189 2019
31
Left ventricular noncompaction in a Para athlete. 61
31090793 2019
32
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. 61
30942644 2019
33
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
34
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. 61
30576400 2019
35
Case of congenital nystagmus. 61
30242942 2019
36
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
37
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. 61
30555098 2018
38
Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration. 61
30521779 2018
39
Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. 61
30015830 2018
40
Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment. 61
28764992 2018
41
Comorbid inner ear disorders in 50 patients with congenital nystagmus. 61
29718589 2018
42
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. 61
30090012 2018
43
Medical and legal point of view for low-vision patients. 61
29796434 2018
44
The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University. 61
30364305 2018
45
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. 61
29186371 2017
46
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. 61
29232904 2017
47
Topical brinzolamide in congenital nystagmus: A retrospective study. 61
28734565 2017
48
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. 61
29141312 2017
49
Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene. 61
28962155 2017
50
AhR-deficiency as a cause of demyelinating disease and inflammation. 61
28851966 2017

Variations for Congenital Nystagmus

ClinVar genetic disease variations for Congenital Nystagmus:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OCA2 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) SNV Uncertain significance 194918 rs371412500 GRCh37: 15:28171332-28171332
GRCh38: 15:27926186-27926186

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 transmembrane transporter complex GO:1902495 8.96 CNGB3 CNGA3
2 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 pigmentation GO:0043473 9.43 TYR OCA2 MC1R
2 visual perception GO:0007601 9.43 TYR PAX6 GPR143 CRYAA CNGB3 CNGA3
3 melanin biosynthetic process GO:0042438 9.33 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 9.33 RDX FARP2 FARP1
2 cGMP binding GO:0030553 9.26 CNGB3 CNGA3
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
4 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Congenital Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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