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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MalaCards based summary: Pigmented Paravenous Chorioretinal Atrophy, also known as pigmented paravenous retinochoroidal atrophy, is related to chorioretinitis and retinitis, and has symptoms including 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:46 172870

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

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Sources:
20GeneTests, 22GTR, 46OMIM, 62UMLS, 48Orphanet, 26ICD10 via Orphanet
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Pigmented Paravenous Chorioretinal Atrophy, Aliases & Descriptions:

Name: Pigmented Paravenous Chorioretinal Atrophy 20 22 46 62
Pigmented Paravenous Retinochoroidal Atrophy 48
 
Pprca 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 172870
ICD10 via Orphanet26 H35.5

Related Diseases for Pigmented Paravenous Chorioretinal Atrophy

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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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Symptoms by clinical synopsis from OMIM:

172870

Clinical features from OMIM:

172870

HPO human phenotypes related to Pigmented Paravenous Chorioretinal Atrophy:

id Description Frequency HPO Source Accession
1 hypermetropia HP:0000540
2 esotropia HP:0000565
3 vitreoretinal degeneration HP:0000655
4 bony spicule pigmentary retinopathy HP:0007737
5 pigmented paravenous chorioretinal atrophy HP:0007903

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

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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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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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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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Articles related to Pigmented Paravenous Chorioretinal Atrophy:

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

Variations for Pigmented Paravenous Chorioretinal Atrophy

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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1CRB1NM_201253.2(CRB1): c.484G> A (p.Val162Met)single nucleotide variantPathogenicrs137853138GRCh37Chr 1, 197297965: 197297965

Expression for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet