MCID: XLN065
MIFTS: 25

X-Linked Infantile Nystagmus

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 26
Idiopathic Infantile Nystagmus 26 30
Infantile Nystagmus, X-Linked 30 6
Congenital Motor Nystagmus 26 38
X-Linked Idiopathic Infantile Nystagmus 26
Nystagmus 1, Congenital, X- Linked 74
Frmd7-Related Infantile Nystagmus 26
X-Linked Congenital Nystagmus 26
Nys1 26

Classifications:



External Ids:

KEGG 38 H00776
UMLS 74 C1839580

Summaries for X-Linked Infantile Nystagmus

Genetics Home Reference : 26 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 idiopathic infantile nystagmus, is related to pathologic nystagmus and congenital nystagmus. An important gene associated with X-Linked Infantile Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye and testes.

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 30 FRMD7
2 Idiopathic Infantile Nystagmus 30

Anatomical Context for X-Linked Infantile Nystagmus

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

42
Eye, Testes

Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

(show all 29)
# Title Authors Year
1
A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family. ( 30616528 )
2019
2
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. ( 30541351 )
2018
3
Visual Acuity Improves in Children and Adolescents With Idiopathic Infantile Nystagmus. ( 28971630 )
2018
4
Soft Contact Lenses to Optimize Vision in Adults with Idiopathic Infantile Nystagmus: A Pilot Parallel Randomized Controlled Trial. ( 29333910 )
2018
5
Visual functioning in adults with Idiopathic Infantile Nystagmus Syndrome (IINS). ( 30325248 )
2018
6
Task-induced Changes in Idiopathic Infantile Nystagmus Vary with Gaze. ( 28288017 )
2017
7
Retinal microstructures are altered in patients with idiopathic infantile nystagmus. ( 28616716 )
2017
8
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ( 27036142 )
2016
9
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. ( 25678693 )
2015
10
A start codon mutation of the FRMD7 gene in two Korean families with idiopathic infantile nystagmus. ( 26268155 )
2015
11
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. ( 23406872 )
2013
12
Visual deprivation and foveation characteristics both underlie visual acuity deficits in idiopathic infantile nystagmus. ( 23687170 )
2013
13
The Role of FRMD7 in Idiopathic Infantile Nystagmus. ( 21904664 )
2012
14
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ( 21365021 )
2011
15
Neural circuit involved in idiopathic infantile nystagmus syndrome based on FMRI. ( 21261242 )
2011
16
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. ( 21303855 )
2011
17
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. ( 21746984 )
2011
18
Asperger syndrome associated with idiopathic infantile nystagmus--a report of 2 cases. ( 19551561 )
2009
19
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. ( 19072571 )
2008
20
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. ( 18431453 )
2008
21
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. ( 18372314 )
2008
22
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. ( 17962394 )
2008
23
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. ( 18087240 )
2007
24
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. ( 17768376 )
2007
25
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. ( 17013395 )
2006
26
A prospective clinical evaluation of augmented Anderson procedure for idiopathic infantile nystagmus. ( 16935229 )
2006
27
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. ( 16240070 )
2006
28
X-linked infantile periodic alternating nystagmus. ( 16020310 )
2005
29
Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment. ( 10875081 )
1997

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

6 (show all 23)
# 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.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs137852207 GRCh38 Chromosome X, 132085625: 132085625
3 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 GRCh37 Chromosome X, 131214081: 131214081
4 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 GRCh38 Chromosome X, 132080053: 132080053
5 FRMD7 FRMD7, IVS3DS, T-G, +2 single nucleotide variant Pathogenic
6 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 GRCh37 Chromosome X, 131231326: 131231326
7 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 GRCh38 Chromosome X, 132097298: 132097298
8 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 GRCh37 Chromosome X, 131234732: 131234732
9 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 GRCh38 Chromosome X, 132100704: 132100704
10 FRMD7 FRMD7, 3-BP DEL, 41AGA deletion Pathogenic
11 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 GRCh37 Chromosome X, 131220020: 131220020
12 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 GRCh38 Chromosome X, 132085992: 132085992
13 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 GRCh37 Chromosome X, 131218574: 131218574
14 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 GRCh38 Chromosome X, 132084546: 132084546
15 FRMD7 FRMD7, 2-BP DEL, 1274TG deletion Pathogenic
16 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 GRCh37 Chromosome X, 131218568: 131218568
17 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 GRCh38 Chromosome X, 132084540: 132084540
18 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 GRCh37 Chromosome X, 131216484: 131216484
19 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 GRCh38 Chromosome X, 132082456: 132082456
20 FRMD7 FRMD7, IVS11, G-A, +5 single nucleotide variant Pathogenic
21 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 GRCh37 Chromosome X, 131219698: 131219698
22 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 GRCh38 Chromosome X, 132085670: 132085670
23 subset of 11 genes:FRMD7; GPC3 GRCh37/hg19 Xq26.1-26.2(chrX: 130280298-132670366) copy number loss Pathogenic GRCh37 Chromosome X, 130280298: 132670366

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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