NYS1
MCID: XLN065
MIFTS: 25

X-Linked Infantile Nystagmus (NYS1)

Categories: Eye diseases, Genetic 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 37
X-Linked Idiopathic Infantile Nystagmus 25
Nystagmus 1, Congenital, X- Linked 72
Frmd7-Related Infantile Nystagmus 25
X-Linked Congenital Nystagmus 25
Nys1 25

Classifications:



External Ids:

KEGG 37 H00776
UMLS 72 C1839580

Summaries for X-Linked Infantile Nystagmus

KEGG : 37
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

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 Not yet recruiting NCT03566745

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:

41
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. 38
30616528 2019
2
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. 38
27036142 2016
3
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. 38
21746984 2011
4
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. 38
21365021 2011
5
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. 38
18431453 2008

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FRMD7 NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs137852207 X:131219653-131219653 X:132085625-132085625
2 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 X:131231326-131231326 X:132097298-132097298
3 FRMD7 FRMD7, IVS3DS, T-G, +2 single nucleotide variant Pathogenic
4 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 X:131234732-131234732 X:132100704-132100704
5 FRMD7 FRMD7, 3-BP DEL, 41AGA deletion Pathogenic
6 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 X:131220020-131220020 X:132085992-132085992
7 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 X:131218574-131218574 X:132084546-132084546
8 FRMD7 FRMD7, 2-BP DEL, 1274TG deletion Pathogenic
9 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 X:131218568-131218568 X:132084540-132084540
10 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 X:131216484-131216484 X:132082456-132082456
11 subset of 11 genes:FRMD7 ; GPC3 GRCh37/hg19 Xq26.1-26.2(chrX: 130280298-132670366) copy number loss Pathogenic X:130280298-132670366 :0-0
12 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 X:131214081-131214081 X:132080053-132080053
13 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 X:131219698-131219698 X:132085670-132085670
14 FRMD7 FRMD7, IVS11, G-A, +5 single nucleotide variant Pathogenic

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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