NYS1
MCID: XLN065
MIFTS: 26

X-Linked Infantile Nystagmus (NYS1)

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

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:



External Ids:

KEGG 36 H00776
UMLS 71 C1839580

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.

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:



Diseases related to X-Linked Infantile Nystagmus

Symptoms & Phenotypes for X-Linked Infantile Nystagmus

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

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

Anatomical Context for X-Linked Infantile Nystagmus

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

40
Eye, Testes

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
30616528 2019
2
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. 61
27036142 2016
3
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. 61
21746984 2011
4
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. 61
21365021 2011
5
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. 61
18431453 2008

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

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# 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, +2SNV 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, 41AGAdeletion 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, 1274TGdeletion 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>ASNV 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>TSNV 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>ASNV Uncertain significance 367915 rs1057515773 X:131261974-131261974 X:132127946-132127946
19 FRMD7 NM_001306193.1(FRMD7):c.*300T>CSNV 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>GSNV Uncertain significance 367901 rs750133372 X:131211300-131211300 X:132077272-132077272
29 FRMD7 NM_194277.2(FRMD7):c.*573G>TSNV Uncertain significance 367902 rs963218129 X:131211327-131211327 X:132077299-132077299
30 FRMD7 NM_194277.2(FRMD7):c.*196G>CSNV 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>CSNV Uncertain significance 367904 rs1057515769 X:131211607-131211607 X:132077579-132077579
34 FRMD7 NM_194277.2(FRMD7):c.*285C>TSNV 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>TSNV Uncertain significance 367914 rs1057515772 X:131261972-131261972 X:132127944-132127944
37 FRMD7 NM_001306193.1(FRMD7):c.58-6G>ASNV Uncertain significance 914923 X:131234750-131234750 X:132100722-132100722
38 FRMD7 NM_194277.2(FRMD7):c.-14C>TSNV Likely benign 367913 rs200222913 X:131261886-131261886 X:132127858-132127858
39 FRMD7 NM_001306193.1(FRMD7):c.338-14T>CSNV Likely benign 914411 X:131220076-131220076 X:132086048-132086048
40 FRMD7 NM_001306193.1(FRMD7):c.*827T>ASNV Likely benign 914868 X:131211073-131211073 X:132077045-132077045
41 FRMD7 NM_001306193.1(FRMD7):c.*730A>GSNV Likely benign 914869 X:131211170-131211170 X:132077142-132077142
42 FRMD7 NM_001306193.1(FRMD7):c.*685T>CSNV Likely benign 914870 X:131211215-131211215 X:132077187-132077187
43 FRMD7 NM_194277.2(FRMD7):c.*665A>TSNV 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>ASNV Benign 367898 rs41312755 X:131211084-131211084 X:132077056-132077056

Expression for X-Linked Infantile Nystagmus

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

Pathways for X-Linked Infantile Nystagmus

GO Terms for X-Linked Infantile Nystagmus

Sources for X-Linked Infantile Nystagmus

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68 SNOMED-CT via HPO
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