PPRCA
MCID: PGM007
MIFTS: 19

Pigmented Paravenous Chorioretinal Atrophy (PPRCA) malady

Eye category

Summaries for Pigmented Paravenous Chorioretinal Atrophy

Sources:
47OMIM, 33MalaCards
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MalaCards: Pigmented Paravenous Chorioretinal Atrophy, also known as pigmented paravenous retinochoroidal atrophy, is related to coloboma and retinochoroidal coloboma. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (crumbs homolog 1 (Drosophila)).

Description from OMIM:47 172870

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
pigmented paravenous retinochoroidal atrophy:
Inheritance: Autosomal dominant,Sporadic; Prevalence: <1/1000000; Age of onset: Variable


Aliases & Descriptions:

pigmented paravenous chorioretinal atrophy 20 22 47 61
pigmented paravenous retinochoroidal atrophy 49
pprca 49


External Ids:

OMIM47 172870
ICD10 via Orphanet26 H35.5

Related Diseases for Pigmented Paravenous Chorioretinal Atrophy

Sources:
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
1coloboma10.4
2retinochoroidal coloboma10.4
3macular dystrophy10.4
4retinitis pigmentosa10.4

Clinical Features for Pigmented Paravenous Chorioretinal Atrophy

Sources:
47OMIM
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Clinical features from OMIM:

172870

Clinical synopsis from OMIM:

172870

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pigmented Paravenous Chorioretinal Atrophy

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

Sources:
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

Animal Models for Pigmented Paravenous Chorioretinal Atrophy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pigmented Paravenous Chorioretinal Atrophy

Sources:
51PubMed
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Articles related to Pigmented Paravenous Chorioretinal Atrophy:

(show all 12)
idTitleAuthorsYear
1
Pigmented paravenous chorioretinal atrophy with Coat's like response. (24212310)
2013
2
Abnormalities of fundus autofluorescence in pigmented paravenous chorioretinal atrophy. (23264840)
2012
3
Bilateral pigmented paravenous chorioretinal atrophy: a case report. (21829406)
2011
4
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. (15623792)
2005
5
Unilateral retinitis pigmentosa in a woman and pigmented paravenous chorioretinal atrophy in her daughter and son. (11027012)
2000
6
Hereditary pigmented paravenous chorioretinal atrophy. (9695092)
1998
7
Hereditary pigmented paravenous chorioretinal atrophy. (2801856)
1989
8
Pigmented paravenous chorioretinal atrophy. (3195328)
1988
9
Retinal microangiopathy in pigmented paravenous chorioretinal atrophy. (3676145)
1987
10
Hereditary pigmented paravenous chorioretinal atrophy. (3778279)
1986
11
Pigmented paravenous chorioretinal atrophy. (6696014)
1984
12
Pigmented paravenous chorioretinal atrophy. (6614113)
1983

Genetic Variations for Pigmented Paravenous Chorioretinal Atrophy

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

63
id Symbol AA change Variation SNP ID
1CRB1p.Val162MetVAR_022942rs137853138

Expression for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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

Compounds for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

GO Terms for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

Products for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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  • Proteins
  • Lysates
  • Antibodies

Sources for Pigmented Paravenous Chorioretinal Atrophy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet