Congenital Nystagmus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CNG024 MIFTS: 36	Congenital Nystagmus Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Congenital Nystagmus

MalaCards integrated aliases for Congenital Nystagmus:

Name: Congenital Nystagmus ¹² ⁶ ¹⁵ ¹⁷ ⁷¹

Nystagmus, Congenital ⁴³

Nystagmus Congenital ⁵⁴

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:9649

ICD9CM ³⁴ 379.51

MeSH ⁴³ D020417

SNOMED-CT ⁶⁷ 64635004

ICD10 ³² H55.01

EFO ¹⁷ EFO_0007217

UMLS ⁷¹ C0700501

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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

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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 164)

#	Related Disease	Score	Top Affiliating Genes
1	x-linked infantile nystagmus	33.3	GPR143 FRMD7
2	albinism	31.0	TYR OCA2 MC1R GPR143
3	astigmatism	30.9	GPR143 FRMD7 CRYAA
4	ocular albinism	30.8	TYR OCA2 GPR143 FRMD7
5	albinism, oculocutaneous, type ii	30.5	TYR OCA2 MC1R
6	exotropia	30.3	PAX6 JRK CRYAA
7	oculocutaneous albinism	30.3	TYR OCA2 MC1R
8	isolated foveal hypoplasia	30.2	SLC38A8 PAX6
9	esotropia	30.2	PAX6 JRK FRMD7 CRYAA
10	strabismus	30.2	TYR PAX6 JRK GPR143 FRMD7 CRYAA
11	albinism, oculocutaneous, type ia	30.2	TYR OCA2 GPR143
12	aniridia 1	30.0	SLC38A8 PAX6 FRMD7 CRYAA
13	albinism, oculocutaneous, type ib	29.9	TYR OCA2 MC1R GPR143
14	anterior segment dysgenesis	29.8	SLC38A8 PAX6 CRYAA
15	myopia	29.8	TYR PAX6 CRYAA CNGB3
16	achromatopsia	28.8	SLC38A8 PAX6 FRMD7 CRYAA CNGB3 CNGA3
17	ocular motility disease	28.6	SLC38A8 PAX6 JRK GPR143 FRMD7 CRYZL1
18	congenital stationary night blindness	28.6	CRYZL1 CRYAA CNGB3 CNGA3
19	fundus dystrophy	27.9	TYR RNU4ATAC PAX6 FRMD7 CRYAA CNGB3
20	eye disease	27.8	TYR RNU4ATAC PAX6 GJA8 CRYAA CNGB3
21	pathologic nystagmus	25.9	TYR TMEM63A SLC38A8 RNU4ATAC RDX PAX6
22	congenital nystagmus 1	12.5
23	split-hand with congenital nystagmus, fundal changes, and cataracts	12.4
24	hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses	12.3
25	hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response	12.2
26	nystagmus 2, congenital, autosomal dominant	12.1
27	nystagmus 6, congenital, x-linked	12.1
28	nystagmus 3, congenital, autosomal dominant	12.1
29	nystagmus 4, congenital, autosomal dominant	12.1
30	nystagmus 5, congenital, x-linked	12.1
31	nystagmus 7, congenital, autosomal dominant	12.1
32	nystagmus, congenital, autosomal recessive	11.7
33	split hand split foot nystagmus	11.5
34	nystagmus 1, congenital, x-linked	11.5
35	x-linked intellectual disability, najm type	11.5
36	epiphyseal dysplasia, microcephaly, and nystagmus	11.3
37	o donnell pappas syndrome	11.2
38	leukodystrophy, hypomyelinating, 19, transient infantile	11.0
39	mechanical strabismus	10.5
40	albinism, oculocutaneous, type vii	10.4	OCA2 GPR143
41	acute contagious conjunctivitis	10.4	TYR OCA2
42	refractive error	10.3
43	developmental defect of the eye	10.3	SLC38A8 PAX6
44	acute conjunctivitis	10.3	TYR OCA2
45	albinism, oculocutaneous, type v	10.3	TYR OCA2 GPR143
46	chorea gravidarum	10.3	OCA2 JRK
47	cataract 9, multiple types	10.3	GJA8 CRYAA
48	cataract microcornea syndrome	10.3	GJA8 CRYAA
49	joint laxity, short stature, and myopia	10.3
50	frmd7-related infantile nystagmus	10.3

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

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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	9.28	CASK CNGA3 CNGB3 FARP1 GJA8 GPR143

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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

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Genetic Tests for Congenital Nystagmus

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Anatomical Context for Congenital Nystagmus

MalaCards organs/tissues related to Congenital Nystagmus:

⁴⁰

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

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Publications for Congenital Nystagmus

Articles related to Congenital Nystagmus:

(show top 50) (show all 654)

#	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	Liu JY...Wang QK	17516023	2007
2	Deletion in the OA1 gene in a family with congenital X linked nystagmus. ⁶¹ ⁵⁴	Preising M...Lorenz B	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	Bassi MT...Schiaffino MV	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	Hanson I...van Heyningen V	9931324	1999
5	Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus. ⁶¹	Economides JR...Horton JC	32503054	2020
6	Foveation dynamics in congenital nystagmus IV: vergence. ⁶¹	Dell'Osso LF...Collewijn H	31776760	2020
7	Re: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. ⁶¹	Rufai SR	32522480	2020
8	Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. ⁶¹	Mayer AK...Wissinger B	31896775	2020
9	Congenital Nystagmus and Its Congeners. ⁶¹	Brodsky MC	32397854	2020
10	The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. ⁶¹	Weiner C...Pras E	32032626	2020
11	Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. ⁶¹	Finsterer J	31782039	2020
12	Impaired DNA-binding affinity of novel PAX6 mutations. ⁶¹	Lee S...Choi JH	32080308	2020
13	Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. ⁶¹	Finsterer J	31800741	2019
14	Reply to: Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease. ⁶¹	Maia EC...Oliveira Filho JA	31800743	2019
15	Nystagmus-related FRMD7 gene influences the maturation and complexities of neuronal processes in human neurons. ⁶¹	Pu J...Zhang B	31743612	2019
16	Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy. ⁶¹	Yan H...Wolf NI	31587869	2019
17	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	Pehere NK...Dutton GN	31546477	2019
18	Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells. ⁶¹	Winkelman BHJ...Kamermans M	31513577	2019
19	A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. ⁶¹	O'Gorman L...Self JE	31519934	2019
20	A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. ⁶¹	Lee B...Park JS	30986449	2019
21	[Ophthalmological evaluation in children referred to a low-vision rehabilitation project of a social assistance agency]. ⁶¹	Barria Von-B F...Marin D M	31344189	2019
22	Left ventricular noncompaction in a Para athlete. ⁶¹	Maia EC...Oliveira Filho JA	31090793	2019
23	Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. ⁶¹	Michaud V...Arveiler B	30942644	2019
24	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	Yan N...Ma K	30890130	2019
25	Case of congenital nystagmus. ⁶¹	Nichols D	30242942	2019
26	Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus. ⁶¹	Wang Z...Lu B	30576400	2019
27	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	Kousal B...Liskova P	31638560	2019
28	Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. ⁶¹	Jung JH...Choi JH	30555098	2018
29	Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration. ⁶¹	Mace E...Roska B	30521779	2018
30	Identification of a novel idiopathic congenital nystagmus‑causing missense mutation, p.G296C, in the FRMD7 gene. ⁶¹	Xiu Y...Zhu Y	30015830	2018
31	Impact on GABA systems in monogenetic developmental CNS disorders: Clues to symptomatic treatment. ⁶¹	Benke D...Mohler H	28764992	2018
32	Comorbid inner ear disorders in 50 patients with congenital nystagmus. ⁶¹	Huang YC...Young YH	29718589	2018
33	Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. ⁶¹	Souzeau E...Craig JE	30090012	2018
34	The prevalence of vision impairment and refractive error in 3654 first year students at Tianjin Medical University. ⁶¹	Shi XY...Li XR	30364305	2018
35	Medical and legal point of view for low-vision patients. ⁶¹	Bogdanici CM...Diaconu CM	29796434	2018
36	A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. ⁶¹	Simons C...Wolf NI	29186371	2017
37	An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. ⁶¹	Tracewska-Siemiatkowska A...Tranebjarg L	29232904	2017
38	Topical brinzolamide in congenital nystagmus: A retrospective study. ⁶¹	Nieves-Moreno M...Gomez-de-Liano R	28734565	2017
39	[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. ⁶¹	Gao ZJ...Chen XL	29141312	2017
40	Stable cell lines of human SH-SY5Y uniformly expressing wild-type or mutant-type FERM domain containing 7 gene. ⁶¹	Pu J...Zhang B	28962155	2017
41	Pathological eye movements influence on the recordings of ocular vestibular-evoked myogenic potential. ⁶¹	Yang TH...Young YH	28323487	2017
42	AhR-deficiency as a cause of demyelinating disease and inflammation. ⁶¹	Juricek L...Coumoul X	28851966	2017
43	A large family with inherited optic disc anomalies: a correlation between a new genetic locus and complex ocular phenotypes. ⁶¹	Wang D...Zhao C	28798362	2017
44	[Ophthalmological rehabilitation of visually impaired children]. ⁶¹	Altpeter EK...Nguyen NX	27832328	2017
45	GPR143 mutations in Chinese patients with ocular albinism type 1. ⁶¹	Jia X...Guo X	28339057	2017
46	A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. ⁶¹	Dunn P...Schrauwen I	28139025	2017
47	Small-incision lenticule extraction in a patient with congenital nystagmus. ⁶¹	Kim BK...Chung YT	28317667	2017
48	Evaluation of the Role of Displacement Surgery in the Management of Congenital Nystagmus. ⁶¹	Wagdy FM...Sarhan AE	28243423	2017
49	Infantile nystagmus: an optometrist's perspective. ⁶¹	Zahidi AA...Dunn MJ	30214368	2017
50	A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. ⁶¹	Liu J...Bu J	27958203	2016

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Genes for Congenital Nystagmus

Genes related to Congenital Nystagmus (0 elite genes):

(show all 20)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FRMD7	FERM Domain Containing 7	Protein Coding	26.58	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
2	GPR143	G Protein-Coupled Receptor 143	Protein Coding	26.17	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	17516023 11214907 11520764
3	PAX6	Paired Box 6	Protein Coding	21.99	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	9931324
4	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	20.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
5	TMEM63A	Transmembrane Protein 63A	Protein Coding	13.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
6	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	12.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	TYR	Tyrosinase	Protein Coding	11.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	GJA8	Gap Junction Protein Alpha 8	Protein Coding	10.43	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	MC1R	Melanocortin 1 Receptor	Protein Coding	9.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	CRYAA	Crystallin Alpha A	Protein Coding	8.81	DISEASES inferred ¹⁵ ¹⁵
11	RNU4ATAC	RNA, U4atac Small Nuclear (U12-Dependent Splicing)	RNA Gene	8.6	DISEASES inferred ¹⁵ ¹⁵
12	CRYZL1	Crystallin Zeta Like 1	Protein Coding	7.64	DISEASES inferred ¹⁵
13	SLC38A8	Solute Carrier Family 38 Member 8	Protein Coding	7.62	DISEASES inferred ¹⁵
14	NYS2	Nystagmus 2, Congenital Autosomal Dominant	Genetic Locus	7.18	GeneCards inferred via : Publications (show sections)
15	JRK	Jrk Helix-Turn-Helix Protein	Protein Coding	6.84	DISEASES inferred ¹⁵
16	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	6.68	DISEASES inferred ¹⁵
17	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.6	DISEASES inferred ¹⁵
18	FARP1	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 1	Protein Coding	6.58	DISEASES inferred ¹⁵
19	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	6.41	DISEASES inferred ¹⁵
20	RDX	Radixin	Protein Coding	6.39	DISEASES inferred ¹⁵

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Variations for Congenital Nystagmus

ClinVar genetic disease variations for Congenital Nystagmus:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	OCA2	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	SNV	Conflicting interpretations of pathogenicity	194918	rs371412500	15:28171332-28171332	15:27926186-27926186

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Expression for Congenital Nystagmus

Search GEO for disease gene expression data for Congenital Nystagmus.

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Pathways for Congenital Nystagmus

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

#	Super pathways	Score	Top Affiliating Genes
1	Melanin biosynthesis ⁶⁵	9.32	TYR OCA2

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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	9.43	RDX FARP2 FARP1
2	cGMP binding	GO:0030553	9.32	CNGB3 CNGA3
3	intracellular cAMP-activated cation channel activity	GO:0005222	9.16	CNGB3 CNGA3
4	intracellular cGMP-activated cation channel activity	GO:0005223	8.96	CNGB3 CNGA3
5	Rac guanyl-nucleotide exchange factor activity	GO:0030676	8.8	FRMD7 FARP2 FARP1

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Sources for Congenital Nystagmus

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia