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 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:



External Ids:

KEGG 36 H00776
UMLS 70 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 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.

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:



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 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

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
21746984 2011
2
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 6
21303855 2011
3
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. 6
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
17962394 2008
5
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 6
18087240 2007
6
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. 6
17768376 2007
7
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 6
17013395 2006
8
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. 6
16240070 2006
9
X-linked infantile periodic alternating nystagmus. 6
16020310 2005
10
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. 61
30616528 2019
11
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. 61
27036142 2016
12
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. 61
21365021 2011
13
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:

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
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71 UMLS via Orphanet
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