MCID: PGM007
MIFTS: 27

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 54 24 71 29 13 69
Pigmented Paravenous Retinochoroidal Atrophy 56
Pprca 56
Ppcra 71

Characteristics:

Orphanet epidemiological data:

56
pigmented paravenous retinochoroidal atrophy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal dominant vs. x-linked


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 172870
Orphanet 56 ORPHA251295
UMLS via Orphanet 70 C1868310
ICD10 via Orphanet 34 H35.5
MedGen 40 C1868310
SNOMED-CT via HPO 65 38101003 16596007 247182006

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

OMIM : 54
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:

id Related Disease Score Top Affiliating Genes
1 chorioretinitis 10.6
2 retinitis 10.2
3 retinitis pigmentosa 10.1

Symptoms & Phenotypes for Pigmented Paravenous Chorioretinal Atrophy

Symptoms via clinical synopsis from OMIM:

54

Misc:
usually asymptomatic

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


Clinical features from OMIM:

172870

Human phenotypes related to Pigmented Paravenous Chorioretinal Atrophy:

32
id Description HPO Frequency HPO Source Accession
1 vitreoretinal degeneration 32 HP:0000655
2 esotropia 32 HP:0000565
3 hypermetropia 32 HP:0000540
4 bone spicule pigmentation of the retina 32 HP:0007737
5 paravenous chorioretinal atrophy 32 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:

id Genetic test Affiliating Genes
1 Pigmented Paravenous Chorioretinal Atrophy 29 24 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

39
Bone, Eye, Retina

Publications for Pigmented Paravenous Chorioretinal Atrophy

Articles related to Pigmented Paravenous Chorioretinal Atrophy:

(show all 12)
id Title Authors Year
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

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

71
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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