MCID: XLN065
MIFTS: 21

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 25
Infantile Nystagmus, X-Linked 29 6
Congenital Motor Nystagmus 25 37
X-Linked Idiopathic Infantile Nystagmus 25
Nystagmus 1, Congenital, X- Linked 73
Frmd7-Related Infantile Nystagmus 25
Idiopathic Infantile Nystagmus 25
X-Linked Congenital Nystagmus 25
Nys1 25

Classifications:



External Ids:

KEGG 37 H00776
UMLS 73 C1839580

Summaries for X-Linked Infantile Nystagmus

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.

MalaCards based summary : X-Linked Infantile Nystagmus, also known as infantile nystagmus, x-linked, 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

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

Anatomical Context for X-Linked Infantile Nystagmus

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

41
Eye

Publications for X-Linked Infantile Nystagmus

Articles related to X-Linked Infantile Nystagmus:

# Title Authors Year
1
Novel mutations of FRMD7 in Chinese patients with congenital motor nystagmus. ( 28656292 )
2017
2
Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus. ( 27036142 )
2016
3
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. ( 21365021 )
2011
4
Five novel mutations of the FRMD7 gene in Chinese families with X- linked infantile nystagmus. ( 18431453 )
2008
5
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. ( 17893669 )
2007
6
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. ( 17768376 )
2007
7
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. ( 16240070 )
2006

Variations for X-Linked Infantile Nystagmus

ClinVar genetic disease variations for X-Linked Infantile Nystagmus:

6
(show all 22)
# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....