MCID: EXD004
MIFTS: 20

Exudative Vitreoretinopathy 4 malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Exudative Vitreoretinopathy 4

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OMIM:45 Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the... (601813) more...

MalaCards based summary: Exudative Vitreoretinopathy 4 and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and subcapsular cataract. An important gene associated with Exudative Vitreoretinopathy 4 is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include retina.

Aliases & Classifications for Exudative Vitreoretinopathy 4

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Exudative Vitreoretinopathy 4, Aliases & Descriptions:

Name: Exudative Vitreoretinopathy 4 45 10 22 60


Classifications:

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


External Ids:

OMIM45 601813

Related Diseases for Exudative Vitreoretinopathy 4

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Symptoms for Exudative Vitreoretinopathy 4

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Symptoms by clinical synopsis from OMIM:

601813

Clinical features from OMIM:

601813

HPO human phenotypes related to Exudative Vitreoretinopathy 4:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 subcapsular cataract HP:0000523
4 blindness HP:0000618
5 osteopenia HP:0000938
6 pigmentary retinal degeneration HP:0001146
7 retinal exudate HP:0001147
8 vitreous detachment HP:0001489
9 falciform retinal fold HP:0001493
10 infantile onset HP:0003593
11 peripheral retinal avascularization HP:0007685
12 horizontal pendular nystagmus HP:0007811
13 vitreous hemorrhage HP:0007902
14 tractional retinal detachment HP:0007917

Drugs & Therapeutics for Exudative Vitreoretinopathy 4

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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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Genetic tests related to Exudative Vitreoretinopathy 4:

id Genetic test Affiliating Genes
1 Exudative Vitreoretinopathy 422

Anatomical Context for Exudative Vitreoretinopathy 4

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MalaCards organs/tissues related to Exudative Vitreoretinopathy 4:

31
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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UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 4:

62 (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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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
  • Proteins
  • Kits and Assays

Sources for Exudative Vitreoretinopathy 4

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet