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 ²⁵

Idiopathic Infantile Nystagmus ²⁵ ²⁹

Infantile Nystagmus, X-Linked ²⁹ ⁶

Congenital Motor Nystagmus ²⁵ ³⁶

X-Linked Idiopathic Infantile Nystagmus ²⁵

Nystagmus 1, Congenital, X- Linked ⁷¹

Frmd7-Related Infantile Nystagmus ²⁵

X-Linked Congenital Nystagmus ²⁵

Nys1 ²⁵

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 ⁷¹ 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 and pathologic nystagmus. An important gene associated with X-Linked Infantile Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye and testes.

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.

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Related Diseases for X-Linked Infantile Nystagmus

Diseases in the Nystagmus 1, Congenital, X-Linked family:

Nystagmus 5, Congenital, X-Linked	Nystagmus 6, 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	29.8	GPR143 FRMD7
2	pathologic nystagmus	29.6	GPR143 FRMD7
3	strabismus	29.2	GPR143 FRMD7
4	ocular albinism	29.0	GPR143 FRMD7
5	nystagmus 1, congenital, x-linked	11.9
6	congenital nystagmus 1	11.6
7	nystagmus 5, congenital, x-linked	11.5
8	nystagmus, congenital, autosomal recessive	11.4
9	nystagmus 2, congenital, autosomal dominant	11.2
10	nystagmus 4, congenital, autosomal dominant	11.2
11	nystagmus 6, congenital, x-linked	11.2
12	nystagmus 3, congenital, autosomal dominant	11.2
13	nystagmus 7, congenital, autosomal dominant	11.2
14	suppression amblyopia	10.3
15	amblyopia	10.3
16	mechanical strabismus	10.3
17	refractive error	10.3
18	frmd7-related infantile nystagmus	10.1
19	albinism, ocular, type i	10.1
20	movement disease	10.1
21	optic nerve hypoplasia, bilateral	10.0
22	autism	10.0
23	microvascular complications of diabetes 5	10.0
24	asperger syndrome	10.0
25	autism spectrum disorder	10.0
26	ametropic amblyopia	10.0
27	eye disease	10.0
28	blue cone monochromacy	9.9
29	yemenite deaf-blind hypopigmentation syndrome	9.9
30	congenital stationary night blindness	9.9
31	night blindness	9.9
32	albinism	9.9
33	ocular albinism, x-linked	9.9
34	ocular motility disease	9.5	GPR143 FRMD7
35	astigmatism	9.4	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	Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease	Unknown status	NCT03566745
2	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, Testes

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Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

#	Title	Authors	PMID	Year
1	A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. ⁶¹	Chen J...Kang X	30616528	2019
2	Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ⁶¹	Zhao H...Jin ZB	27036142	2016
3	Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. ⁶¹	Khan AO...Al Tassan N	21746984	2011
4	Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ⁶¹	Li N...Zhao K	21365021	2011
5	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
1	FRMD7	FERM Domain Containing 7	Protein Coding	507.51	Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Publications (show sections)
2	NYS5	Nystagmus 5, Infantile Periodic Alternating	Genetic Locus	50	MalaCards inferred ⁴⁰
3	GPR143	G Protein-Coupled Receptor 143	Protein Coding	6.82	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 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FRMD7	NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter)	SNV	Pathogenic	10782	rs137852207	X:131219653-131219653	X:132085625-132085625
2	FRMD7	NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter)	SNV	Pathogenic	10783	rs137852208	X:131214081-131214081	X:132080053-132080053
3	FRMD7	FRMD7, IVS3DS, T-G, +2	SNV	Pathogenic	10784
4	FRMD7	NM_194277.2(FRMD7):c.252G>A (p.Val84=)	SNV	Pathogenic	10785	rs137852209	X:131231326-131231326	X:132097298-132097298
5	FRMD7	NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg)	SNV	Pathogenic	10786	rs137852210	X:131234732-131234732	X:132100704-132100704
6	FRMD7	FRMD7, 3-BP DEL, 41AGA	deletion	Pathogenic	10787
7	FRMD7	NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg)	SNV	Pathogenic	10788	rs137852211	X:131220020-131220020	X:132085992-132085992
8	FRMD7	NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly)	SNV	Pathogenic	10789	rs137852212	X:131218574-131218574	X:132084546-132084546
9	FRMD7	FRMD7, 2-BP DEL, 1274TG	deletion	Pathogenic	10790
10	FRMD7	NM_194277.2(FRMD7):c.691T>G (p.Leu231Val)	SNV	Pathogenic	29976	rs387906720	X:131218568-131218568	X:132084540-132084540
11	FRMD7	NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr)	SNV	Pathogenic	29977	rs387906721	X:131216484-131216484	X:132082456-132082456
12	FRMD7	NM_194277.2(FRMD7):c.1050+5G>A	SNV	Pathogenic	29978		X:131214029-131214029	X:132080001-132080001
13	FRMD7	NM_194277.2(FRMD7):c.556A>G (p.Met186Val)	SNV	Pathogenic	192295	rs786205896	X:131219698-131219698	X:132085670-132085670
14	subset of 11 genes: FRMD7 , GPC3	GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)	copy number loss	Pathogenic	625800		X:130280298-132670366
15	FRMD7	NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser)	SNV	Conflicting interpretations of pathogenicity	712417		X:131212457-131212457	X:132078429-132078429
16	FRMD7	NM_194277.2(FRMD7):c.285-3C>T	SNV	Conflicting interpretations of pathogenicity	731482		X:131228170-131228170	X:132094142-132094142
17	FRMD7	NM_001306193.1(FRMD7):c.1754G>A (p.Arg585His)	SNV	Uncertain significance	912925		X:131212246-131212246	X:132078218-132078218
18	FRMD7	NM_194277.2(FRMD7):c.-102G>A	SNV	Uncertain significance	367915	rs1057515773	X:131261974-131261974	X:132127946-132127946
19	FRMD7	NM_001306193.1(FRMD7):c.*300T>C	SNV	Uncertain significance	912924		X:131211600-131211600	X:132077572-132077572
20	FRMD7	NM_001306193.1(FRMD7):c.1601T>A (p.Val534Glu)	SNV	Uncertain significance	912926		X:131212399-131212399	X:132078371-132078371
21	FRMD7	NM_001306193.1(FRMD7):c.1436A>G (p.Gln479Arg)	SNV	Uncertain significance	913295		X:131212564-131212564	X:132078536-132078536
22	FRMD7	NM_001306193.1(FRMD7):c.1155G>A (p.Ala385=)	SNV	Uncertain significance	913296		X:131212845-131212845	X:132078817-132078817
23	FRMD7	NM_001306193.1(FRMD7):c.947A>G (p.Gln316Arg)	SNV	Uncertain significance	914408		X:131214092-131214092	X:132080064-132080064
24	FRMD7	NM_001306193.1(FRMD7):c.673A>G (p.Ile225Val)	SNV	Uncertain significance	914409		X:131218541-131218541	X:132084513-132084513
25	FRMD7	NM_001306193.1(FRMD7):c.339A>G (p.Ser113=)	SNV	Uncertain significance	914410		X:131220061-131220061	X:132086033-132086033
26	FRMD7	NM_001306193.1(FRMD7):c.263A>C (p.Lys88Thr)	SNV	Uncertain significance	914921		X:131228144-131228144	X:132094116-132094116
27	FRMD7	NM_001306193.1(FRMD7):c.157A>G (p.Asn53Asp)	SNV	Uncertain significance	914922		X:131234645-131234645	X:132100617-132100617
28	FRMD7	NM_194277.2(FRMD7):c.*600C>G	SNV	Uncertain significance	367901	rs750133372	X:131211300-131211300	X:132077272-132077272
29	FRMD7	NM_194277.2(FRMD7):c.*573G>T	SNV	Uncertain significance	367902	rs963218129	X:131211327-131211327	X:132077299-132077299
30	FRMD7	NM_194277.2(FRMD7):c.*196G>C	SNV	Uncertain significance	367906	rs1057515770	X:131211704-131211704	X:132077676-132077676
31	FRMD7	NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg)	SNV	Uncertain significance	367909	rs1057515771	X:131216392-131216392	X:132082364-132082364
32	FRMD7	NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr)	SNV	Uncertain significance	367910	rs199857416	X:131219987-131219987	X:132085959-132085959
33	FRMD7	NM_194277.2(FRMD7):c.*293G>C	SNV	Uncertain significance	367904	rs1057515769	X:131211607-131211607	X:132077579-132077579
34	FRMD7	NM_194277.2(FRMD7):c.*285C>T	SNV	Uncertain significance	367905	rs766974170	X:131211615-131211615	X:132077587-132077587
35	FRMD7	NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro)	SNV	Uncertain significance	367907	rs776519156	X:131212402-131212402	X:132078374-132078374
36	FRMD7	NM_194277.2(FRMD7):c.-100G>T	SNV	Uncertain significance	367914	rs1057515772	X:131261972-131261972	X:132127944-132127944
37	FRMD7	NM_001306193.1(FRMD7):c.58-6G>A	SNV	Uncertain significance	914923		X:131234750-131234750	X:132100722-132100722
38	FRMD7	NM_194277.2(FRMD7):c.-14C>T	SNV	Likely benign	367913	rs200222913	X:131261886-131261886	X:132127858-132127858
39	FRMD7	NM_001306193.1(FRMD7):c.338-14T>C	SNV	Likely benign	914411		X:131220076-131220076	X:132086048-132086048
40	FRMD7	NM_001306193.1(FRMD7):c.*827T>A	SNV	Likely benign	914868		X:131211073-131211073	X:132077045-132077045
41	FRMD7	NM_001306193.1(FRMD7):c.*730A>G	SNV	Likely benign	914869		X:131211170-131211170	X:132077142-132077142
42	FRMD7	NM_001306193.1(FRMD7):c.*685T>C	SNV	Likely benign	914870		X:131211215-131211215	X:132077187-132077187
43	FRMD7	NM_194277.2(FRMD7):c.*665A>T	SNV	Benign	367900	rs3764771	X:131211235-131211235	X:132077207-132077207
44	FRMD7	NM_194277.2(FRMD7):c.1558C>G (p.His520Asp)	SNV	Benign	714968		X:131212487-131212487	X:132078459-132078459
45	FRMD7	NM_194277.2(FRMD7):c.1533T>C (p.Ile511=)	SNV	Benign	263088	rs5977623	X:131212512-131212512	X:132078484-132078484
46	FRMD7	NM_194277.2(FRMD7):c.1403G>A (p.Arg468His)	SNV	Benign	263087	rs6637934	X:131212642-131212642	X:132078614-132078614
47	FRMD7	NM_194277.2(FRMD7):c.1101T>C (p.Asn367=)	SNV	Benign	263086	rs7051368	X:131212944-131212944	X:132078916-132078916
48	FRMD7	NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu)	SNV	Benign	263090	rs5977625	X:131216454-131216454	X:132082426-132082426
49	FRMD7	NM_194277.2(FRMD7):c.69C>T (p.Ser23=)	SNV	Benign	263089	rs5930546	X:131234733-131234733	X:132100705-132100705
50	FRMD7	NM_194277.2(FRMD7):c.*816G>A	SNV	Benign	367898	rs41312755	X:131211084-131211084	X:132077056-132077056

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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 1, 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