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NYS1
MCID: FRM005
MIFTS: 15

Frmd7-Related Infantile Nystagmus (NYS1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications
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Aliases & Classifications for Frmd7-Related Infantile Nystagmus

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MalaCards integrated aliases for Frmd7-Related Infantile Nystagmus:

Name: Frmd7-Related Infantile Nystagmus 24
X-Linked Idiopathic Infantile Nystagmus 24
Nystagmus 1, Congenital, X- Linked 71
Nys1 24

Characteristics:

GeneReviews:

24
Penetrance Penetrance of frmd7-related infantile nystagmus (fin) is full in males and approximately 50% in females; however, eye movement recordings of clinically unaffected females can on occasion reveal a subclinical form of nystagmus [tarpey et al 2006, thomas et al 2008]. analysis of eye movements to an optokinetic stimulus may show a poor response in some clinically unaffected females [thomas et al 2008].

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

UMLS 71 C1839580
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Summaries for Frmd7-Related Infantile Nystagmus

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MalaCards based summary : Frmd7-Related Infantile Nystagmus, also known as x-linked idiopathic infantile nystagmus, is related to congenital nystagmus 1 and x-linked infantile nystagmus. An important gene associated with Frmd7-Related Infantile Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye, brain and fetal brain.

GeneReviews: NBK3822
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Related Diseases for Frmd7-Related Infantile Nystagmus

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Diseases in the Congenital Nystagmus family:

Nystagmus 2, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant
Nystagmus, Congenital, Autosomal Recessive Nystagmus 3, Congenital, Autosomal Dominant
Nystagmus 7, Congenital, Autosomal Dominant Congenital Nystagmus 1
Frmd7-Related Infantile Nystagmus

Diseases related to Frmd7-Related Infantile Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 1 11.6
2 x-linked infantile nystagmus 11.6
3 nystagmus 5, congenital, x-linked 11.5
4 nystagmus 2, congenital, autosomal dominant 11.2
5 nystagmus 4, congenital, autosomal dominant 11.2
6 nystagmus 6, congenital, x-linked 11.2
7 nystagmus 3, congenital, autosomal dominant 11.2
8 nystagmus 7, congenital, autosomal dominant 11.2
9 congenital nystagmus 10.4
10 strabismus 10.3
11 nystagmus 1, congenital, x-linked 10.3
12 suppression amblyopia 10.3
13 amblyopia 10.3
14 mechanical strabismus 10.3
15 pathologic nystagmus 10.3
16 refractive error 10.3

Graphical network of the top 20 diseases related to Frmd7-Related Infantile Nystagmus:



Diseases related to Frmd7-Related Infantile Nystagmus
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Symptoms & Phenotypes for Frmd7-Related Infantile Nystagmus

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Drugs & Therapeutics for Frmd7-Related Infantile Nystagmus

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Search Clinical Trials , NIH Clinical Center for Frmd7-Related Infantile Nystagmus

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Genetic Tests for Frmd7-Related Infantile Nystagmus

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Anatomical Context for Frmd7-Related Infantile Nystagmus

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MalaCards organs/tissues related to Frmd7-Related Infantile Nystagmus:

40
Eye, Brain, Fetal Brain
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Publications for Frmd7-Related Infantile Nystagmus

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Articles related to Frmd7-Related Infantile Nystagmus:

(show all 33)
# Title Authors PMID Year
1
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. 61 24
25678693 2015
2
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. 61 24
19892780 2010
3
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. 61 24
18431453 2008
4
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 24 61
18087240 2007
5
Genotype and Phenotype Spectrum of FRMD7-Associated Infantile Nystagmus Syndrome. 24
30025138 2018
6
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. 24
28378818 2017
7
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. 24
26711119 2016
8
A randomized controlled trial comparing soft contact lens and rigid gas-permeable lens wearing in infantile nystagmus. 24
24811959 2014
9
Abnormal retinal development associated with FRMD7 mutations. 24
24688117 2014
10
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. 24
23406872 2013
11
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 24
21303855 2011
12
Expression and localization of FRMD7 in human fetal brain, and a role for F-actin. 24
21386928 2011
13
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus. 24
20450309 2010
14
The prevalence of nystagmus: the Leicestershire nystagmus survey. 24
19458336 2009
15
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. 24
18372314 2008
16
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. 24
17962394 2008
17
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. 24
18246032 2008
18
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. 24
17893669 2007
19
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. 24
17846367 2007
20
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. 24
17768376 2007
21
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 24
17397053 2007
22
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. 24
17279539 2007
23
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 24
17013395 2006
24
The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study. 24
16556621 2006
25
Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family. 24
15364228 2004
26
Horizontal rectus tenotomy in patients with congenital nystagmus: results in 10 adults. 24
14597515 2003
27
Clinical and ocular motor analysis of the infantile nystagmus syndrome in the first 6 months of life. 24
12034691 2002
28
Development of new treatments for congenital nystagmus. 24
11960819 2002
29
Nystagmus. 24
11148698 2000
30
Congenital motor nystagmus linked to Xq26-q27. 24
9973299 1999
31
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. 24
9806847 1998
32
Infantile nystagmus. Development documented by eye movement recordings. 24
9071231 1997
33
FRMD7-Related Infantile Nystagmus 61
20301748 2009
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Variations for Frmd7-Related Infantile Nystagmus

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Expression for Frmd7-Related Infantile Nystagmus

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Search GEO for disease gene expression data for Frmd7-Related Infantile Nystagmus.
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Pathways for Frmd7-Related Infantile Nystagmus

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GO Terms for Frmd7-Related Infantile Nystagmus

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Sources for Frmd7-Related Infantile Nystagmus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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