PPRCA
MCID: PGM007
MIFTS: 21

Pigmented Paravenous Chorioretinal Atrophy (PPRCA) malady

Eye diseases category

Summaries for Pigmented Paravenous Chorioretinal Atrophy

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46OMIM, 32MalaCards
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MalaCards: Pigmented Paravenous Chorioretinal Atrophy, also known as pigmented paravenous retinochoroidal atrophy, is related to chorioretinitis and retinitis. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (crumbs homolog 1 (Drosophila)). Affiliated tissues include eye.

Description from OMIM:46 172870

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

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Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases


Characteristics (Orphanet epidemiological data):

48
pigmented paravenous retinochoroidal atrophy:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

pigmented paravenous chorioretinal atrophy 20 22 46 60
pigmented paravenous retinochoroidal atrophy 48
pprca 48


External Ids:

OMIM46 172870
ICD10 via Orphanet26 H35.5

Related Diseases for Pigmented Paravenous Chorioretinal Atrophy

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17GeneCards, 18GeneDecks
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Diseases related to Pigmented Paravenous Chorioretinal Atrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chorioretinitis10.9
2retinitis10.5
3coloboma10.4
4optic atrophy10.4
5retinitis pigmentosa10.4

Graphical network of diseases related to Pigmented Paravenous Chorioretinal Atrophy:



Diseases related to pigmented paravenous chorioretinal atrophy

Clinical Features for Pigmented Paravenous Chorioretinal Atrophy

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46OMIM
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Clinical features from OMIM:

172870

Clinical synopsis from OMIM:

172870

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pigmented Paravenous Chorioretinal Atrophy

Search CenterWatch for Pigmented Paravenous Chorioretinal Atrophy

Genetic Tests for Pigmented Paravenous Chorioretinal Atrophy

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20GeneTests, 22GTR
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Genetic tests related to Pigmented Paravenous Chorioretinal Atrophy:

id Genetic test Affiliating Genes
1 Pigmented Paravenous Chorioretinal Atrophy20 22 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

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32MalaCards
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MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

32
Eye

Animal Models for Pigmented Paravenous Chorioretinal Atrophy or affiliated genes

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Publications for Pigmented Paravenous Chorioretinal Atrophy

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Genetic Variations for Pigmented Paravenous Chorioretinal Atrophy

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

62
id Symbol AA change Variation ID SNP ID
1CRB1p.Val162MetVAR_022942rs137853138

Expression for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

Search GEO for disease gene expression data for Pigmented Paravenous Chorioretinal Atrophy.

Pathways for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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Compounds for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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GO Terms for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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Products for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pigmented Paravenous Chorioretinal Atrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet