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

NYS1 MCID: XLN065 MIFTS: 26	X-Linked Infantile Nystagmus (NYS1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for X-Linked Infantile Nystagmus

MalaCards integrated aliases for X-Linked Infantile Nystagmus:

Name: X-Linked Infantile Nystagmus ⁴³

Idiopathic Infantile Nystagmus ⁴³ ²⁹

Infantile Nystagmus, X-Linked ²⁹ ⁶

Congenital Motor Nystagmus ⁴³ ³⁶

X-Linked Idiopathic Infantile Nystagmus ⁴³

Nystagmus 1, Congenital, X- Linked ⁷⁰

Frmd7-Related Infantile Nystagmus ⁴³

X-Linked Congenital Nystagmus ⁴³

Nys1 ⁴³

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

KEGG ³⁶ H00776

UMLS ⁷⁰ C1839580

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Summaries for X-Linked Infantile Nystagmus

KEGG : ³⁶ Nystagmus is an eye movement disorder in which one or both eyes are in constant movement. Nystagmus that occur independent of these known ocular or systemic diseases is referred to as congenital motor nystagmus (CMN) or idiopathic congenital nystagmus (ICN). It can be inherited as an autosomal dominant, an autosomal recessive, or an X-linked trait. At least six genetic loci for CMN have been suggested, including three loci for autosomal dominant CMN, and three loci for X-linked CMN. A variety of mutations in the FRMD7 gene have been identified in many families with an X-linked recessive pattern. Another mutation associated with X-linked CMN is GPR143.

MalaCards based summary : X-Linked Infantile Nystagmus, also known as idiopathic infantile nystagmus, is related to congenital nystagmus 1 and nystagmus 3, congenital, autosomal dominant. An important gene associated with X-Linked Infantile Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye.

MedlinePlus Genetics : ⁴³ 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.

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Related Diseases for X-Linked Infantile Nystagmus

Diseases in the Nystagmus 6, Congenital, X-Linked family:

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

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

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	congenital nystagmus 1	31.6	GPR143 FRMD7
2	nystagmus 3, congenital, autosomal dominant	30.9	GPR143 FRMD7
3	nystagmus 7, congenital, autosomal dominant	30.9	GPR143 FRMD7
4	nystagmus 2, congenital, autosomal dominant	30.9	GPR143 FRMD7
5	nystagmus 4, congenital, autosomal dominant	30.9	GPR143 FRMD7
6	nystagmus 6, congenital, x-linked	30.9	GPR143 FRMD7
7	nystagmus 5, congenital, x-linked	30.6	NYS5 GPR143 FRMD7
8	pathologic nystagmus	29.9	GPR143 FRMD7
9	congenital nystagmus	29.7	GPR143 FRMD7
10	strabismus	29.4	GPR143 FRMD7
11	ocular albinism	29.4	GPR143 FRMD7
12	nystagmus 1, congenital, x-linked	11.3
13	nystagmus, congenital, autosomal recessive	11.2
14	suppression amblyopia	10.2
15	amblyopia	10.2
16	mechanical strabismus	10.2
17	refractive error	10.2
18	frmd7-related infantile nystagmus	10.1
19	albinism, ocular, type i	10.0
20	movement disease	10.0
21	optic nerve hypoplasia, bilateral	10.0
22	microvascular complications of diabetes 5	10.0
23	asperger syndrome	10.0
24	autism spectrum disorder	10.0
25	ametropic amblyopia	10.0
26	eye disease	10.0
27	blue cone monochromacy	9.9
28	yemenite deaf-blind hypopigmentation syndrome	9.9
29	congenital stationary night blindness	9.9
30	night blindness	9.9
31	albinism	9.9
32	ocular albinism, x-linked	9.9
33	ocular motility disease	9.7	GPR143 FRMD7
34	astigmatism	9.6	GPR143 FRMD7
35	achromatopsia	9.5	GPR143 FRMD7

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	Biofeedback in Idiopathic Infantile Nystagmus Syndrome	Recruiting	NCT04142307

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
2	Idiopathic Infantile Nystagmus ²⁹

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Anatomical Context for X-Linked Infantile Nystagmus

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

⁴⁰

Eye

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Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

(show all 13)

#	Title	Authors	PMID	Year
1	Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. ⁶ ⁶¹	Khan AO...Al Tassan N	21746984	2011
2	The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. ⁶	Thomas MG...Gottlob I	21303855	2011
3	A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. ⁶	He X...Ma X	19072571	2008
4	Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. ⁶	Kaplan Y...Akarsu NA	17962394	2008
5	X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. ⁶	Shiels A...Tychsen L	18087240	2007
6	FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. ⁶	Zhang Q...Guo X	17768376	2007
7	Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. ⁶	Tarpey P...Gottlob I	17013395	2006
8	Linkage analysis of two families with X-linked recessive congenital motor nystagmus. ⁶	Guo X...Zhang Q	16240070	2006
9	X-linked infantile periodic alternating nystagmus. ⁶	Hertle RW...Seward A	16020310	2005
10	A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. ⁶¹	Chen J...Kang X	30616528	2019
11	Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ⁶¹	Zhao H...Jin ZB	27036142	2016
12	Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ⁶¹	Li N...Zhao K	21365021	2011
13	Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. ⁶¹	Li N...Zhao K	18431453	2008

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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	PubMed IDs
1	FRMD7	FERM Domain Containing 7	Protein Coding	533.07	Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)	17013395
2	NYS5	Nystagmus 5, Infantile Periodic Alternating	Genetic Locus	50	MalaCards inferred ⁴⁰
3	GPR143	G Protein-Coupled Receptor 143	Protein Coding	7.18	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 top 50) (show all 55)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FRMD7	NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter)	SNV	Pathogenic	10782	rs137852207	GRCh37: X:131219653-131219653 GRCh38: X:132085625-132085625
2	FRMD7	NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter)	SNV	Pathogenic	10783	rs137852208	GRCh37: X:131214081-131214081 GRCh38: X:132080053-132080053
3	FRMD7	NM_194277.2(FRMD7):c.252G>A (p.Val84=)	SNV	Pathogenic	10785	rs137852209	GRCh37: X:131231326-131231326 GRCh38: X:132097298-132097298
4	FRMD7	NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg)	SNV	Pathogenic	10788	rs137852211	GRCh37: X:131220020-131220020 GRCh38: X:132085992-132085992
5	FRMD7	NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly)	SNV	Pathogenic	10789	rs137852212	GRCh37: X:131218574-131218574 GRCh38: X:132084546-132084546
6	FRMD7	FRMD7, 2-BP DEL, 1274TG	Deletion	Pathogenic	10790		GRCh37: GRCh38:
7	FRMD7	NM_194277.2(FRMD7):c.691T>G (p.Leu231Val)	SNV	Pathogenic	29976	rs387906720	GRCh37: X:131218568-131218568 GRCh38: X:132084540-132084540
8	FRMD7	NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr)	SNV	Pathogenic	29977	rs387906721	GRCh37: X:131216484-131216484 GRCh38: X:132082456-132082456
9	FRMD7	NM_194277.2(FRMD7):c.556A>G (p.Met186Val)	SNV	Pathogenic	192295	rs786205896	GRCh37: X:131219698-131219698 GRCh38: X:132085670-132085670
10	FRMD7	NM_194277.2(FRMD7):c.1050+5G>A	SNV	Pathogenic	29978	rs1602791884	GRCh37: X:131214029-131214029 GRCh38: X:132080001-132080001
11	FRMD7	NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg)	SNV	Pathogenic	10786	rs137852210	GRCh37: X:131234732-131234732 GRCh38: X:132100704-132100704
12	overlap with 11 genes	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	copy number loss	Pathogenic	625800		GRCh37: X:130280298-132670366 GRCh38:
13	FRMD7	NM_194277.3(FRMD7):c.205+2T>G	SNV	Pathogenic	10784		GRCh37: X:131233494-131233494 GRCh38: X:132099466-132099466
14	FRMD7	NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del)	Microsatellite	Pathogenic	10787		GRCh37: X:131261830-131261832 GRCh38: X:132127802-132127804
15	FRMD7	NM_194277.3(FRMD7):c.1050+1G>C	SNV	Likely pathogenic	976097		GRCh37: X:131214033-131214033 GRCh38: X:132080005-132080005
16	FRMD7	NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr)	SNV	Uncertain significance	914921		GRCh37: X:131228144-131228144 GRCh38: X:132094116-132094116
17	FRMD7	NM_194277.2(FRMD7):c.*293G>C	SNV	Uncertain significance	367904	rs1057515769	GRCh37: X:131211607-131211607 GRCh38: X:132077579-132077579
18	FRMD7	NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp)	SNV	Uncertain significance	914922		GRCh37: X:131234645-131234645 GRCh38: X:132100617-132100617
19	FRMD7	NM_194277.3(FRMD7):c.58-6G>A	SNV	Uncertain significance	914923		GRCh37: X:131234750-131234750 GRCh38: X:132100722-132100722
20	FRMD7	NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser)	SNV	Uncertain significance	712417	rs200651852	GRCh37: X:131212457-131212457 GRCh38: X:132078429-132078429
21	FRMD7	NM_194277.2(FRMD7):c.285-3C>T	SNV	Uncertain significance	731482	rs750320516	GRCh37: X:131228170-131228170 GRCh38: X:132094142-132094142
22	FRMD7	NM_194277.3(FRMD7):c.*300T>C	SNV	Uncertain significance	912924		GRCh37: X:131211600-131211600 GRCh38: X:132077572-132077572
23	FRMD7	NM_194277.3(FRMD7):c.1799G>A (p.Arg600His)	SNV	Uncertain significance	912925		GRCh37: X:131212246-131212246 GRCh38: X:132078218-132078218
24	FRMD7	NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu)	SNV	Uncertain significance	912926		GRCh37: X:131212399-131212399 GRCh38: X:132078371-132078371
25	FRMD7	NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg)	SNV	Uncertain significance	913295		GRCh37: X:131212564-131212564 GRCh38: X:132078536-132078536
26	FRMD7	NM_194277.3(FRMD7):c.1200G>A (p.Ala400=)	SNV	Uncertain significance	913296		GRCh37: X:131212845-131212845 GRCh38: X:132078817-132078817
27	FRMD7	NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg)	SNV	Uncertain significance	914408		GRCh37: X:131214092-131214092 GRCh38: X:132080064-132080064
28	FRMD7	NM_194277.3(FRMD7):c.718A>G (p.Ile240Val)	SNV	Uncertain significance	914409		GRCh37: X:131218541-131218541 GRCh38: X:132084513-132084513
29	FRMD7	NM_194277.3(FRMD7):c.384A>G (p.Ser128=)	SNV	Uncertain significance	914410		GRCh37: X:131220061-131220061 GRCh38: X:132086033-132086033
30	FRMD7	NM_194277.2(FRMD7):c.*196G>C	SNV	Uncertain significance	367906	rs1057515770	GRCh37: X:131211704-131211704 GRCh38: X:132077676-132077676
31	FRMD7	NM_194277.2(FRMD7):c.*600C>G	SNV	Uncertain significance	367901	rs750133372	GRCh37: X:131211300-131211300 GRCh38: X:132077272-132077272
32	FRMD7	NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro)	SNV	Uncertain significance	367907	rs776519156	GRCh37: X:131212402-131212402 GRCh38: X:132078374-132078374
33	FRMD7	NM_194277.2(FRMD7):c.-100G>T	SNV	Uncertain significance	367914	rs1057515772	GRCh37: X:131261972-131261972 GRCh38: X:132127944-132127944
34	FRMD7	NM_194277.2(FRMD7):c.*285C>T	SNV	Uncertain significance	367905	rs766974170	GRCh37: X:131211615-131211615 GRCh38: X:132077587-132077587
35	FRMD7	NM_194277.2(FRMD7):c.*573G>T	SNV	Uncertain significance	367902	rs963218129	GRCh37: X:131211327-131211327 GRCh38: X:132077299-132077299
36	FRMD7	NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr)	SNV	Uncertain significance	367910	rs199857416	GRCh37: X:131219987-131219987 GRCh38: X:132085959-132085959
37	FRMD7	NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg)	SNV	Uncertain significance	367909	rs1057515771	GRCh37: X:131216392-131216392 GRCh38: X:132082364-132082364
38	FRMD7	NM_194277.2(FRMD7):c.-102G>A	SNV	Uncertain significance	367915	rs1057515773	GRCh37: X:131261974-131261974 GRCh38: X:132127946-132127946
39	FRMD7	NM_194277.3(FRMD7):c.383-14T>C	SNV	Likely benign	914411		GRCh37: X:131220076-131220076 GRCh38: X:132086048-132086048
40	FRMD7	NM_194277.3(FRMD7):c.*827T>A	SNV	Likely benign	914868		GRCh37: X:131211073-131211073 GRCh38: X:132077045-132077045
41	FRMD7	NM_194277.3(FRMD7):c.*730A>G	SNV	Likely benign	914869		GRCh37: X:131211170-131211170 GRCh38: X:132077142-132077142
42	FRMD7	NM_194277.3(FRMD7):c.*685T>C	SNV	Likely benign	914870		GRCh37: X:131211215-131211215 GRCh38: X:132077187-132077187
43	FRMD7	NM_194277.2(FRMD7):c.-14C>T	SNV	Likely benign	367913	rs200222913	GRCh37: X:131261886-131261886 GRCh38: X:132127858-132127858
44	FRMD7	NM_194277.2(FRMD7):c.383-11C>T	SNV	Benign	367911	rs56029310	GRCh37: X:131220073-131220073 GRCh38: X:132086045-132086045
45	FRMD7	NM_194277.2(FRMD7):c.1558C>G (p.His520Asp)	SNV	Benign	714968	rs61742429	GRCh37: X:131212487-131212487 GRCh38: X:132078459-132078459
46	FRMD7	NM_194277.2(FRMD7):c.284+10T>G	SNV	Benign	367912	rs6634867	GRCh37: X:131231284-131231284 GRCh38: X:132097256-132097256
47	FRMD7	NM_194277.2(FRMD7):c.1403G>A (p.Arg468His)	SNV	Benign	263087	rs6637934	GRCh37: X:131212642-131212642 GRCh38: X:132078614-132078614
48	FRMD7	NM_194277.2(FRMD7):c.1533T>C (p.Ile511=)	SNV	Benign	263088	rs5977623	GRCh37: X:131212512-131212512 GRCh38: X:132078484-132078484
49	FRMD7	NM_194277.2(FRMD7):c.1101T>C (p.Asn367=)	SNV	Benign	263086	rs7051368	GRCh37: X:131212944-131212944 GRCh38: X:132078916-132078916
50	FRMD7	NM_194277.2(FRMD7):c.69C>T (p.Ser23=)	SNV	Benign	263089	rs5930546	GRCh37: X:131234733-131234733 GRCh38: X:132100705-132100705

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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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Sources for X-Linked Infantile Nystagmus

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X-Linked Infantile Nystagmus (NYS1)

Aliases & Classifications for X-Linked Infantile Nystagmus

MalaCards integrated aliases for X-Linked Infantile Nystagmus:

Classifications:

External Ids:

Summaries for X-Linked Infantile Nystagmus

Related Diseases for X-Linked Infantile Nystagmus

Diseases in the Nystagmus 6, Congenital, X-Linked family:

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

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

Symptoms & Phenotypes for X-Linked Infantile Nystagmus

Drugs & Therapeutics for X-Linked Infantile Nystagmus

Interventional clinical trials:

Genetic Tests for X-Linked Infantile Nystagmus

Genetic tests related to X-Linked Infantile Nystagmus:

Anatomical Context for X-Linked Infantile Nystagmus

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

Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

Genes for X-Linked Infantile Nystagmus

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

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

Expression for X-Linked Infantile Nystagmus

Pathways for X-Linked Infantile Nystagmus

GO Terms for X-Linked Infantile Nystagmus

Sources for X-Linked Infantile Nystagmus