X-Linked Infantile Nystagmus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for X-Linked Infantile Nystagmus

MalaCards integrated aliases for X-Linked Infantile Nystagmus:

Name: X-Linked Infantile Nystagmus ²⁵

Infantile Nystagmus, X-Linked ²⁹ ⁶

Congenital Motor Nystagmus ²⁵ ³⁷

X-Linked Idiopathic Infantile Nystagmus ²⁵

Nystagmus 1, Congenital, X- Linked ⁷³

Frmd7-Related Infantile Nystagmus ²⁵

Idiopathic Infantile Nystagmus ²⁵

X-Linked Congenital Nystagmus ²⁵

Nys1 ²⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases

See all MalaCards categories (disease lists)

External Ids:

KEGG ³⁷ H00776

UMLS ⁷³ C1839580

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Summaries for X-Linked Infantile Nystagmus

Genetics Home Reference : ²⁵ X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements.

MalaCards based summary : X-Linked Infantile Nystagmus, also known as infantile nystagmus, x-linked, is related to congenital nystagmus and nystagmus 1, congenital, x-linked. An important gene associated with X-Linked Infantile Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye.

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Related Diseases for X-Linked Infantile Nystagmus

Diseases in the X-Linked Infantile Nystagmus family:

Nystagmus 5, Congenital, X-Linked	Nystagmus 6, Congenital, X-Linked
Nystagmus 1, Congenital, X-Linked

Diseases related to X-Linked Infantile Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score	Top Affiliating Genes
1	congenital nystagmus	29.2	FRMD7 GPR143
2	nystagmus 1, congenital, x-linked	11.2
3	frmd7-related infantile nystagmus	10.9
4	nystagmus 2, congenital, autosomal dominant	10.9
5	nystagmus 4, congenital, autosomal dominant	10.9
6	nystagmus 5, congenital, x-linked	10.9
7	nystagmus 6, congenital, x-linked	10.9
8	nystagmus 3, congenital, autosomal dominant	10.9
9	nystagmus 7, congenital, autosomal dominant	10.9
10	pathologic nystagmus	9.4	FRMD7 GPR143
11	ocular motility disease	9.2	FRMD7 GPR143
12	astigmatism	9.1	FRMD7 GPR143
13	strabismus	8.9	FRMD7 GPR143

Graphical network of the top 20 diseases related to X-Linked Infantile Nystagmus:

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Symptoms & Phenotypes for X-Linked Infantile Nystagmus

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Drugs & Therapeutics for X-Linked Infantile Nystagmus

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease	Not yet recruiting	NCT03566745

Search NIH Clinical Center for X-Linked Infantile Nystagmus

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Genetic Tests for X-Linked Infantile Nystagmus

Genetic tests related to X-Linked Infantile Nystagmus:

#	Genetic test	Affiliating Genes
1	Infantile Nystagmus, X-Linked ²⁹	FRMD7

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Anatomical Context for X-Linked Infantile Nystagmus

MalaCards organs/tissues related to X-Linked Infantile Nystagmus:

⁴¹

Eye

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Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

#	Title	Authors	Year
1	Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus. ( 28656292 )	Jia X....Guo X.	2017
2	Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ( 27036142 )	Zhao H....Jin Z.B.	2016
3	Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ( 21365021 )	Li N....Zhao K.	2011
4	Five novel mutations of the FRMD7 gene in Chinese families with X- linked infantile nystagmus. ( 18431453 )	Li N....Zhao K.	2008
5	Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. ( 17893669 )	Zhang B....Xia J.	2007
6	FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. ( 17768376 )	Zhang Q....Guo X.	2007
7	Linkage analysis of two families with X-linked recessive congenital motor nystagmus. ( 16240070 )	Guo X....Zhang Q.	2006

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Genes for X-Linked Infantile Nystagmus

Genes related to X-Linked Infantile Nystagmus (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FRMD7	FERM Domain Containing 7	Protein Coding	517.92	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
2	NYS5	Nystagmus 5, Infantile Periodic Alternating	Genetic Locus	50	MalaCards inferred ⁵⁷
3	GPR143	G Protein-Coupled Receptor 143	Protein Coding	17.37	GeneCards inferred via : Publications (show sections)

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Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

⁶

(show all 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FRMD7	NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs137852207	GRCh37	Chromosome X, 131219653: 131219653
2	FRMD7	NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter)	single nucleotide variant	Pathogenic	rs137852207	GRCh38	Chromosome X, 132085625: 132085625
3	FRMD7	NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter)	single nucleotide variant	Pathogenic	rs137852208	GRCh37	Chromosome X, 131214081: 131214081
4	FRMD7	NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter)	single nucleotide variant	Pathogenic	rs137852208	GRCh38	Chromosome X, 132080053: 132080053
5	FRMD7	FRMD7, IVS3DS, T-G, +2	single nucleotide variant	Pathogenic
6	FRMD7	NM_194277.2(FRMD7): c.252G> A (p.Val84=)	single nucleotide variant	Pathogenic	rs137852209	GRCh37	Chromosome X, 131231326: 131231326
7	FRMD7	NM_194277.2(FRMD7): c.252G> A (p.Val84=)	single nucleotide variant	Pathogenic	rs137852209	GRCh38	Chromosome X, 132097298: 132097298
8	FRMD7	NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg)	single nucleotide variant	Pathogenic	rs137852210	GRCh37	Chromosome X, 131234732: 131234732
9	FRMD7	NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg)	single nucleotide variant	Pathogenic	rs137852210	GRCh38	Chromosome X, 132100704: 132100704
10	FRMD7	FRMD7, 3-BP DEL, 41AGA	deletion	Pathogenic
11	FRMD7	NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg)	single nucleotide variant	Pathogenic	rs137852211	GRCh37	Chromosome X, 131220020: 131220020
12	FRMD7	NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg)	single nucleotide variant	Pathogenic	rs137852211	GRCh38	Chromosome X, 132085992: 132085992
13	FRMD7	NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly)	single nucleotide variant	Pathogenic	rs137852212	GRCh37	Chromosome X, 131218574: 131218574
14	FRMD7	NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly)	single nucleotide variant	Pathogenic	rs137852212	GRCh38	Chromosome X, 132084546: 132084546
15	FRMD7	FRMD7, 2-BP DEL, 1274TG	deletion	Pathogenic
16	FRMD7	NM_194277.2(FRMD7): c.691T> G (p.Leu231Val)	single nucleotide variant	Pathogenic	rs387906720	GRCh37	Chromosome X, 131218568: 131218568
17	FRMD7	NM_194277.2(FRMD7): c.691T> G (p.Leu231Val)	single nucleotide variant	Pathogenic	rs387906720	GRCh38	Chromosome X, 132084540: 132084540
18	FRMD7	NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr)	single nucleotide variant	Pathogenic	rs387906721	GRCh37	Chromosome X, 131216484: 131216484
19	FRMD7	NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr)	single nucleotide variant	Pathogenic	rs387906721	GRCh38	Chromosome X, 132082456: 132082456
20	FRMD7	FRMD7, IVS11, G-A, +5	single nucleotide variant	Pathogenic
21	FRMD7	NM_194277.2(FRMD7): c.556A> G (p.Met186Val)	single nucleotide variant	Pathogenic	rs786205896	GRCh37	Chromosome X, 131219698: 131219698
22	FRMD7	NM_194277.2(FRMD7): c.556A> G (p.Met186Val)	single nucleotide variant	Pathogenic	rs786205896	GRCh38	Chromosome X, 132085670: 132085670

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Expression for X-Linked Infantile Nystagmus

Search GEO for disease gene expression data for X-Linked Infantile Nystagmus.

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Pathways for X-Linked Infantile Nystagmus

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GO Terms for X-Linked Infantile Nystagmus

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