MCID: EXD004
MIFTS: 14

Exudative Vitreoretinopathy 4 malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Exudative Vitreoretinopathy 4

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Sources:
47OMIM, 33MalaCards
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MalaCards: Exudative Vitreoretinopathy 4 is related to lrp5-related familial exudative vitreoretinopathy, autosomal recessive. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include retina.

Description from OMIM:47 601813

Aliases & Classifications for Exudative Vitreoretinopathy 4

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Sources:
47OMIM, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases


Aliases & Descriptions:

exudative vitreoretinopathy 4 47 62


Related Diseases for Exudative Vitreoretinopathy 4

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 5 Exudative Vitreoretinopathy-3
exudative vitreoretinopathy 4

Diseases related to Exudative Vitreoretinopathy 4 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lrp5-related familial exudative vitreoretinopathy, autosomal recessive10.3

Symptoms for Exudative Vitreoretinopathy 4

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

601813

Clinical features from OMIM:

601813

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Exudative Vitreoretinopathy 4

Search NIH Clinical Center for Exudative Vitreoretinopathy 4

Genetic Tests for Exudative Vitreoretinopathy 4

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Anatomical Context for Exudative Vitreoretinopathy 4

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Sources:
33MalaCards
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MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

33
Retina

Animal Models for Exudative Vitreoretinopathy 4 or affiliated genes

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Publications for Exudative Vitreoretinopathy 4

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Variations for Exudative Vitreoretinopathy 4

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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 4:

64 (show all 21)
id Symbol AA change Variation ID SNP ID
1LRP5p.Thr173MetVAR_018465
2LRP5p.Tyr1168HisVAR_018466
3LRP5p.Cys1361GlyVAR_018467
4LRP5p.Arg570GlnVAR_021222
5LRP5p.Arg752GlyVAR_021223
6LRP5p.Glu1367LysVAR_021224rs28939709
7LRP5p.Leu145PheVAR_063943
8LRP5p.Glu441LysVAR_063956
9LRP5p.Arg444CysVAR_063957
10LRP5p.Asp511AlaVAR_063962
11LRP5p.Ala522ThrVAR_063964
12LRP5p.Thr535MetVAR_063966
13LRP5p.Gly550ArgVAR_063967
14LRP5p.Gly610ArgVAR_063968
15LRP5p.Phe617CysVAR_063969
16LRP5p.Thr798AlaVAR_063972
17LRP5p.Arg805TrpVAR_063973
18LRP5p.Asn1121AspVAR_063977rs80358317
19LRP5p.Cys1253PheVAR_063978
20LRP5p.Ala422ThrVAR_071012
21LRP5p.Leu540ProVAR_071013

Expression for genes affiliated with Exudative Vitreoretinopathy 4

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exudative Vitreoretinopathy 4

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 4.

Pathways for genes affiliated with Exudative Vitreoretinopathy 4

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Compounds for genes affiliated with Exudative Vitreoretinopathy 4

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GO Terms for genes affiliated with Exudative Vitreoretinopathy 4

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Products for genes affiliated with Exudative Vitreoretinopathy 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exudative Vitreoretinopathy 4

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet