MCID: XLN033
MIFTS: 14

X-Linked Familial Exudative Vitreoretinopathy

Categories: Genetic diseases

Aliases & Classifications for X-Linked Familial Exudative Vitreoretinopathy

MalaCards integrated aliases for X-Linked Familial Exudative Vitreoretinopathy:

Name: X-Linked Familial Exudative Vitreoretinopathy 24
Familial Exudative Vitreoretinopathy, X-Linked 29

Classifications:



Summaries for X-Linked Familial Exudative Vitreoretinopathy

MalaCards based summary : X-Linked Familial Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, x-linked, is related to exudative vitreoretinopathy 2, x-linked and exudative vitreoretinopathy. An important gene associated with X-Linked Familial Exudative Vitreoretinopathy is NDP (NDP, Norrin Cystine Knot Growth Factor).

Related Diseases for X-Linked Familial Exudative Vitreoretinopathy

Diseases in the Exudative Vitreoretinopathy 2, X-Linked family:

X-Linked Familial Exudative Vitreoretinopathy

Diseases related to X-Linked Familial Exudative Vitreoretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 2, x-linked 11.3
2 exudative vitreoretinopathy 10.5
3 norrie disease 10.0

Symptoms & Phenotypes for X-Linked Familial Exudative Vitreoretinopathy

Drugs & Therapeutics for X-Linked Familial Exudative Vitreoretinopathy

Search Clinical Trials , NIH Clinical Center for X-Linked Familial Exudative Vitreoretinopathy

Genetic Tests for X-Linked Familial Exudative Vitreoretinopathy

Genetic tests related to X-Linked Familial Exudative Vitreoretinopathy:

id Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy, X-Linked 29
2 X-Linked Familial Exudative Vitreoretinopathy 24

Anatomical Context for X-Linked Familial Exudative Vitreoretinopathy

Publications for X-Linked Familial Exudative Vitreoretinopathy

Articles related to X-Linked Familial Exudative Vitreoretinopathy:

id Title Authors Year
1
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
2
Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy. ( 17050281 )
2006
3
Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy. ( 9299244 )
1997
4
X-linked familial exudative vitreoretinopathy. Report of one family. ( 7624602 )
1995
5
Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy. ( 7558002 )
1995
6
A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. ( 8252044 )
1993
7
Mapping studies of an X-linked familial exudative vitreoretinopathy. ( 8099790 )
1993
8
X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes. ( 8418643 )
1993

Variations for X-Linked Familial Exudative Vitreoretinopathy

ClinVar genetic disease variations for X-Linked Familial Exudative Vitreoretinopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NDP NM_000266.3(NDP): c.370C> T (p.Leu124Phe) single nucleotide variant Pathogenic rs28933684 GRCh37 Chromosome X, 43809077: 43809077
2 NDP NM_000266.3(NDP): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894878 GRCh37 Chromosome X, 43809086: 43809086
3 NDP NM_000266.3(NDP): c.328T> G (p.Cys110Gly) single nucleotide variant Pathogenic rs104894876 GRCh37 Chromosome X, 43809119: 43809119
4 NDP NM_000266.3(NDP): c.362G> T (p.Arg121Leu) single nucleotide variant Pathogenic rs137852220 GRCh37 Chromosome X, 43809085: 43809085
5 NDP NM_000266.3(NDP): c.220C> T (p.Arg74Cys) single nucleotide variant Pathogenic rs727504031 GRCh37 Chromosome X, 43809227: 43809227

Expression for X-Linked Familial Exudative Vitreoretinopathy

Search GEO for disease gene expression data for X-Linked Familial Exudative Vitreoretinopathy.

Pathways for X-Linked Familial Exudative Vitreoretinopathy

GO Terms for X-Linked Familial Exudative Vitreoretinopathy

Sources for X-Linked Familial Exudative Vitreoretinopathy

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10 dbSNP
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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