MCID: XLN065
MIFTS: 19

X-Linked Infantile Nystagmus

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for X-Linked Infantile Nystagmus

MalaCards integrated aliases for X-Linked Infantile Nystagmus:

Name: X-Linked Infantile Nystagmus 24
Congenital Motor Nystagmus 24 36
X-Linked Idiopathic Infantile Nystagmus 24
Nystagmus 1, Congenital, X- Linked 69
Frmd7-Related Infantile Nystagmus 24
Idiopathic Infantile Nystagmus 24
X-Linked Congenital Nystagmus 24
Infantile Nystagmus, X-Linked 28
Nys1 24

Classifications:



External Ids:

KEGG 36 H00776
UMLS 69 C1839580

Summaries for X-Linked Infantile Nystagmus

Genetics Home Reference : 24 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.

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

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

Search Clinical Trials , 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 28 FRMD7

Anatomical Context for X-Linked Infantile Nystagmus

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

38
Eye

Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

# Title Authors Year
1
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ( 27036142 )
2016
2
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ( 21365021 )
2011
3
Five novel mutations of the FRMD7 gene in Chinese families with X- linked infantile nystagmus. ( 18431453 )
2008

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRMD7 NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs137852207 GRCh37 Chromosome X, 131219653: 131219653
2 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 GRCh37 Chromosome X, 131214081: 131214081
3 FRMD7 FRMD7, IVS3DS, T-G, +2 single nucleotide variant Pathogenic
4 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 GRCh37 Chromosome X, 131231326: 131231326
5 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 GRCh37 Chromosome X, 131234732: 131234732
6 FRMD7 FRMD7, 3-BP DEL, 41AGA deletion Pathogenic
7 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 GRCh37 Chromosome X, 131220020: 131220020
8 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 GRCh37 Chromosome X, 131218574: 131218574
9 FRMD7 FRMD7, 2-BP DEL, 1274TG deletion Pathogenic
10 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 GRCh37 Chromosome X, 131218568: 131218568
11 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 GRCh37 Chromosome X, 131216484: 131216484
12 FRMD7 FRMD7, IVS11, G-A, +5 single nucleotide variant Pathogenic
13 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 GRCh37 Chromosome X, 131219698: 131219698

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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