MCID: PGM007
MIFTS: 26

Pigmented Paravenous Chorioretinal Atrophy malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pigmented Paravenous Chorioretinal Atrophy:

Name: Pigmented Paravenous Chorioretinal Atrophy 52 24 70 27 12 68
Pigmented Paravenous Retinochoroidal Atrophy 54
 
Pprca 54
Ppcra 70

Characteristics:

Orphanet epidemiological data:

54
pigmented paravenous retinochoroidal atrophy:
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 172870
Orphanet54 ORPHA251295
ICD10 via Orphanet31 H35.5
MedGen37 C1868310

Summaries for Pigmented Paravenous Chorioretinal Atrophy

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UniProtKB/Swiss-Prot:70 Pigmented paravenous chorioretinal atrophy: Unusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein.

MalaCards based summary: Pigmented Paravenous Chorioretinal Atrophy, also known as pigmented paravenous retinochoroidal atrophy, is related to chorioretinitis and retinitis, and has symptoms including hypermetropia, esotropia and vitreoretinal degeneration. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (Crumbs 1, Cell Polarity Complex Component). Affiliated tissues include bone, retina and eye.

OMIM:52 Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle... (172870) more...

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1chorioretinitis10.6
2retinitis10.2
3retinitis pigmentosa10.1

Symptoms & Phenotypes for Pigmented Paravenous Chorioretinal Atrophy

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Symptoms by clinical synopsis from OMIM:

172870

Clinical features from OMIM:

172870

Human phenotypes related to Pigmented Paravenous Chorioretinal Atrophy:

 64
id Description HPO Frequency HPO Source Accession
1 hypermetropia64 HP:0000540
2 esotropia64 HP:0000565
3 vitreoretinal degeneration64 HP:0000655
4 bone spicule pigmentation of the retina64 HP:0007737
5 paravenous chorioretinal atrophy64 HP:0007903

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

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Interventional clinical trials:

Search ClinicalTrials, 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 Atrophy27 24 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

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MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

36
Bone, Retina, Eye

Publications for Pigmented Paravenous Chorioretinal Atrophy

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

70
id Symbol AA change Variation ID SNP ID
1CRB1p.Val162MetVAR_022942rs137853138

Expression for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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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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GO Terms for genes affiliated with Pigmented Paravenous Chorioretinal Atrophy

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Sources for Pigmented Paravenous Chorioretinal Atrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet