PPRCA
MCID: PGM007
MIFTS: 26

Pigmented Paravenous Chorioretinal Atrophy (PPRCA) malady

Genetic diseases, Eye diseases, Rare diseases categories
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Summaries for Pigmented Paravenous Chorioretinal Atrophy

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47OMIM, 33MalaCards
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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 family member 1, photoreceptor morphogenesis associated). Affiliated tissues include eye.

Description from OMIM:47 172870

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 49 
Rare eye diseases


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 62
pigmented paravenous retinochoroidal atrophy 49
pprca 49


External Ids:

OMIM47 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
1chorioretinitis11.0
2retinitis10.6
3coloboma10.5
4macular dystrophy10.5
5retinitis pigmentosa10.4

Graphical network of diseases related to Pigmented Paravenous Chorioretinal Atrophy:



Diseases related to pigmented paravenous chorioretinal atrophy

Symptoms for Pigmented Paravenous Chorioretinal Atrophy

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47OMIM
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Symptoms by clinical synopsis from OMIM:

172870

Clinical features from OMIM:

172870

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pigmented Paravenous Chorioretinal Atrophy

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

33
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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52PubMed
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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

Variations for Pigmented Paravenous Chorioretinal Atrophy

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

64
id Symbol AA change Variation ID SNP ID
1CRB1p.Val162MetVAR_022942rs137853138

Clinvar genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

1
id Gene Name Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.484G> A (p.Val162Met)single nucleotide variantPathogenic, Uncertain significancers137853138GRCh37Chr 1, 197297965: 197297965

Expression for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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2BioGPS, 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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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