MCID: PGM007
MIFTS: 25

Pigmented Paravenous Chorioretinal Atrophy

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

MalaCards integrated aliases for Pigmented Paravenous Chorioretinal Atrophy:

Name: Pigmented Paravenous Chorioretinal Atrophy 53 71 36 28 13 69
Ppcra 53 71
Pigmented Paravenous Retinochoroidal Atrophy 55
Pprca 55

Characteristics:

Orphanet epidemiological data:

55
pigmented paravenous retinochoroidal atrophy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

53
Inheritance:
autosomal dominant vs. x-linked


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 172870
Orphanet 55 ORPHA251295
UMLS via Orphanet 70 C1868310
ICD10 via Orphanet 33 H35.5
MedGen 39 C1868310
KEGG 36 H01088
SNOMED-CT via HPO 65 38101003 16596007 247182006
UMLS 69 C1868310

Summaries for Pigmented Paravenous Chorioretinal Atrophy

UniProtKB/Swiss-Prot : 71 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 1, Cell Polarity Complex Component). Affiliated tissues include bone, retina and eye.

OMIM : 53 Pigmented paravenous chorioretinal atrophy is a stationary disease of the ocular fundus in which bone corpuscle pigmentation is seen in a paravenous distribution. Patients are usually asymptomatic; diagnosis is based on the characteristic fundus appearance. Most cases have been reported in males (summary by Traboulsi and Maumenee, 1986). (172870)

Related Diseases for Pigmented Paravenous Chorioretinal Atrophy

Diseases related to Pigmented Paravenous Chorioretinal Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chorioretinitis 10.7
2 retinitis 10.3
3 retinitis pigmentosa 10.2
4 leber congenital amaurosis 4 10.2

Symptoms & Phenotypes for Pigmented Paravenous Chorioretinal Atrophy

Symptoms via clinical synopsis from OMIM:

53
Eyes:
pigmented paravenous chorioretinal atrophy
bone corpuscle fundus pigmentation
hyperopia
esotropia
vitreoretinal degeneration

Misc:
usually asymptomatic


Clinical features from OMIM:

172870

Human phenotypes related to Pigmented Paravenous Chorioretinal Atrophy:

31
# Description HPO Frequency HPO Source Accession
1 hypermetropia 31 HP:0000540
2 esotropia 31 HP:0000565
3 vitreoretinal degeneration 31 HP:0000655
4 bone spicule pigmentation of the retina 31 HP:0007737
5 paravenous chorioretinal atrophy 31 HP:0007903

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

Search Clinical Trials , NIH Clinical Center for Pigmented Paravenous Chorioretinal Atrophy

Genetic Tests for Pigmented Paravenous Chorioretinal Atrophy

Genetic tests related to Pigmented Paravenous Chorioretinal Atrophy:

# Genetic test Affiliating Genes
1 Pigmented Paravenous Chorioretinal Atrophy 28 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

38
Bone, Retina, Eye

Publications for Pigmented Paravenous Chorioretinal Atrophy

Articles related to Pigmented Paravenous Chorioretinal Atrophy:

(show all 13)
# Title Authors Year
1
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY-DETAILED CLINICAL STUDY OF A LARGE COHORT. ( 29300249 )
2018
2
Pigmented paravenous chorioretinal atrophy with Coat's like response. ( 24212310 )
2013
3
Abnormalities of fundus autofluorescence in pigmented paravenous chorioretinal atrophy. ( 23264840 )
2012
4
Bilateral pigmented paravenous chorioretinal atrophy: a case report. ( 21829406 )
2011
5
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. ( 15623792 )
2005
6
Unilateral retinitis pigmentosa in a woman and pigmented paravenous chorioretinal atrophy in her daughter and son. ( 11027012 )
2000
7
Hereditary pigmented paravenous chorioretinal atrophy. ( 9695092 )
1998
8
Hereditary pigmented paravenous chorioretinal atrophy. ( 2801856 )
1989
9
Pigmented paravenous chorioretinal atrophy. ( 3195328 )
1988
10
Retinal microangiopathy in pigmented paravenous chorioretinal atrophy. ( 3676145 )
1987
11
Hereditary pigmented paravenous chorioretinal atrophy. ( 3778279 )
1986
12
Pigmented paravenous chorioretinal atrophy. ( 6696014 )
1984
13
Pigmented paravenous chorioretinal atrophy. ( 6614113 )
1983

Variations for Pigmented Paravenous Chorioretinal Atrophy

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

71
# Symbol AA change Variation ID SNP ID
1 CRB1 p.Val162Met VAR_022942 rs137853138

Expression for Pigmented Paravenous Chorioretinal Atrophy

Search GEO for disease gene expression data for Pigmented Paravenous Chorioretinal Atrophy.

Pathways for Pigmented Paravenous Chorioretinal Atrophy

GO Terms for Pigmented Paravenous Chorioretinal Atrophy

Sources for Pigmented Paravenous Chorioretinal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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