MCID: VTR013
MIFTS: 25

Vitreoretinopathy, Neovascular Inflammatory malady

Genetic diseases, Eye diseases, Rare diseases categories

Summaries for Vitreoretinopathy, Neovascular Inflammatory

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OMIM:45 Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a blinding disorder that shares some clinical... (193235) more...

MalaCards based summary: Vitreoretinopathy, Neovascular Inflammatory, also known as proliferative vitreoretinopathy, is related to retinitis and retinal detachment, and has symptoms including autosomal dominant inheritance, abnormal electroretinogram and retinal detachment. An important gene associated with Vitreoretinopathy, Neovascular Inflammatory is CAPN5 (calpain 5). Affiliated tissues include retina and eye.

Aliases & Classifications for Vitreoretinopathy, Neovascular Inflammatory

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Vitreoretinopathy, Neovascular Inflammatory, Aliases & Descriptions:

Name: Vitreoretinopathy, Neovascular Inflammatory 45 10 60
Proliferative Vitreoretinopathy 9 11 60
Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy 47
Proliferative Vitreo-Retinopathy 60
 
Vitreoretinopathy Proliferative 43
Retinitis Proliferans 9
Adniv 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
autosomal dominant neovascular inflammatory vitreoretinopathy:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages


External Ids:

OMIM45 193235
Disease Ontology9 DOID:9719
MeSH33 D018630
Orphanet47 329211

Related Diseases for Vitreoretinopathy, Neovascular Inflammatory

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Diseases related to Vitreoretinopathy, Neovascular Inflammatory via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis11.2
2retinal detachment11.1
3endotheliitis10.6
4cataract10.4
5blindness10.3
6tuberous sclerosis10.2
7telangiectasis10.2
8breast cancer10.2
9keloids10.2
10neuronitis10.2
11coats disease10.2
12macular holes10.2
13vitreous detachment10.2
14choroiditis10.2
15visceral leishmaniasis10.2
16leishmaniasis10.2
17retinal degeneration10.2
18retinal disease10.2
19uveitis10.2

Graphical network of diseases related to Vitreoretinopathy, Neovascular Inflammatory:



Diseases related to vitreoretinopathy, neovascular inflammatory

Symptoms for Vitreoretinopathy, Neovascular Inflammatory

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Symptoms by clinical synopsis from OMIM:

193235

Clinical features from OMIM:

193235

HPO human phenotypes related to Vitreoretinopathy, Neovascular Inflammatory:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormal electroretinogram HP:0000512
3 retinal detachment HP:0000541
4 uveitis HP:0000554
5 blindness HP:0000618
6 large hyperpigmented retinal spots HP:0007658
7 neovascularization of peripheral and posterior retina HP:0007778
8 vitreous hemorrhage HP:0007902

Drugs & Therapeutics for Vitreoretinopathy, Neovascular Inflammatory

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Drug clinical trials:

Search ClinicalTrials for Vitreoretinopathy, Neovascular Inflammatory

Search NIH Clinical Center for Vitreoretinopathy, Neovascular Inflammatory

Genetic Tests for Vitreoretinopathy, Neovascular Inflammatory

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Anatomical Context for Vitreoretinopathy, Neovascular Inflammatory

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MalaCards organs/tissues related to Vitreoretinopathy, Neovascular Inflammatory:

31
Retina, Eye

Animal Models for Vitreoretinopathy, Neovascular Inflammatory or affiliated genes

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Publications for Vitreoretinopathy, Neovascular Inflammatory

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Variations for Vitreoretinopathy, Neovascular Inflammatory

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UniProtKB/Swiss-Prot genetic disease variations for Vitreoretinopathy, Neovascular Inflammatory:

62
id Symbol AA change Variation ID SNP ID
1CAPN5p.Arg243LeuVAR_069277
2CAPN5p.Leu244ProVAR_069278

Clinvar genetic disease variations for Vitreoretinopathy, Neovascular Inflammatory:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CAPN5NM_004055.4(CAPN5): c.728G> T (p.Arg243Leu)single nucleotide variantPathogenicrs397514601GRCh37Chr 11, 76826469: 76826469
2CAPN5NM_004055.4(CAPN5): c.731T> C (p.Leu244Pro)single nucleotide variantPathogenicrs397514602GRCh37Chr 11, 76826472: 76826472

Expression for genes affiliated with Vitreoretinopathy, Neovascular Inflammatory

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Search GEO for disease gene expression data for Vitreoretinopathy, Neovascular Inflammatory.

Pathways for genes affiliated with Vitreoretinopathy, Neovascular Inflammatory

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Compounds for genes affiliated with Vitreoretinopathy, Neovascular Inflammatory

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GO Terms for genes affiliated with Vitreoretinopathy, Neovascular Inflammatory

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Biological processes related to Vitreoretinopathy, Neovascular Inflammatory according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteolysisGO:00065089.3CAPN5, HTRA3

Products for genes affiliated with Vitreoretinopathy, Neovascular Inflammatory

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Vitreoretinopathy, Neovascular Inflammatory

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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