MCID: PGM007
MIFTS: 26

Pigmented Paravenous Chorioretinal Atrophy malady

Genetic diseases (common) category

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

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Aliases & Descriptions for Pigmented Paravenous Chorioretinal Atrophy:

Name: Pigmented Paravenous Chorioretinal Atrophy 49 11 22 24 65 67
 
Ppcra 67


Classifications:



External Ids:

OMIM49 172870
MedGen34 C1868310

Summaries for Pigmented Paravenous Chorioretinal Atrophy

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UniProtKB/Swiss-Prot:67 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 ppcra, 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 Family Member 1, Photoreceptor Morphogenesis Associated). Affiliated tissues include bone and retina.

OMIM:49 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
1chorioretinitis11.0
2retinitis10.6
3retinitis pigmentosa10.5

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 bone spicule pigmentation of the retina HP:0007737
5 paravenous chorioretinal atrophy 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 Atrophy22 24 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

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MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

33
Bone, Retina

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 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:

67
id Symbol AA change Variation ID SNP ID
1CRB1p.Val162MetVAR_022942rs137853138

Clinvar genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

5
id Gene Variation 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet