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 57 75 37 29 13 6 73
Ppcra 57 75
Pigmented Paravenous Retinochoroidal Atrophy 59
Atrophy, Chorioretinal, Pigmented Paravenous 40
Pprca 59

Characteristics:

Orphanet epidemiological data:

59
pigmented paravenous retinochoroidal atrophy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant vs. x-linked


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 172870
Orphanet 59 ORPHA251295
UMLS via Orphanet 74 C1868310
ICD10 via Orphanet 34 H35.5
MedGen 42 C1868310
KEGG 37 H01088
SNOMED-CT via HPO 69 38101003 16596007 247182006
UMLS 73 C1868310

Summaries for Pigmented Paravenous Chorioretinal Atrophy

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (Crumbs 1, Cell Polarity Complex Component). Affiliated tissues include bone, retina and eye, and related phenotypes are hypermetropia and esotropia

OMIM : 57 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 hypermetropia 32 HP:0000540
2 esotropia 32 HP:0000565
3 vitreoretinal degeneration 32 HP:0000655
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:

# Genetic test Affiliating Genes
1 Pigmented Paravenous Chorioretinal Atrophy 29 CRB1

Anatomical Context for Pigmented Paravenous Chorioretinal Atrophy

MalaCards organs/tissues related to Pigmented Paravenous Chorioretinal Atrophy:

41
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:

75
# Symbol AA change Variation ID SNP ID
1 CRB1 p.Val162Met VAR_022942 rs137853138

ClinVar genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

6
(show top 50) (show all 74)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRB1 NM_201253.2(CRB1): c.1533C> T (p.Ala511=) single nucleotide variant Benign/Likely benign rs142224492 GRCh37 Chromosome 1, 197390491: 197390491
2 CRB1 NM_201253.2(CRB1): c.1533C> T (p.Ala511=) single nucleotide variant Benign/Likely benign rs142224492 GRCh38 Chromosome 1, 197421361: 197421361
3 CRB1 NM_201253.2(CRB1): c.600A> G (p.Thr200=) single nucleotide variant Benign/Likely benign rs77713666 GRCh37 Chromosome 1, 197298081: 197298081
4 CRB1 NM_201253.2(CRB1): c.600A> G (p.Thr200=) single nucleotide variant Benign/Likely benign rs77713666 GRCh38 Chromosome 1, 197328951: 197328951
5 CRB1 NM_201253.2(CRB1): c.2714G> A (p.Arg905Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs114052315 GRCh38 Chromosome 1, 197429486: 197429486
6 CRB1 NM_201253.2(CRB1): c.2714G> A (p.Arg905Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs114052315 GRCh37 Chromosome 1, 197398616: 197398616
7 CRB1 NM_201253.2(CRB1): c.*28T> C single nucleotide variant Benign rs41302107 GRCh37 Chromosome 1, 197447037: 197447037
8 CRB1 NM_201253.2(CRB1): c.*28T> C single nucleotide variant Benign rs41302107 GRCh38 Chromosome 1, 197477907: 197477907
9 CRB1 NM_201253.2(CRB1): c.2103C> G (p.Pro701=) single nucleotide variant Conflicting interpretations of pathogenicity rs144436610 GRCh37 Chromosome 1, 197391061: 197391061
10 CRB1 NM_201253.2(CRB1): c.2103C> G (p.Pro701=) single nucleotide variant Conflicting interpretations of pathogenicity rs144436610 GRCh38 Chromosome 1, 197421931: 197421931
11 CRB1 NM_201253.2(CRB1): c.-195G> A single nucleotide variant Uncertain significance rs886045782 GRCh38 Chromosome 1, 197268218: 197268218
12 CRB1 NM_201253.2(CRB1): c.-195G> A single nucleotide variant Uncertain significance rs886045782 GRCh37 Chromosome 1, 197237348: 197237348
13 CRB1 NM_201253.2(CRB1): c.1172-15T> A single nucleotide variant Uncertain significance rs375141011 GRCh38 Chromosome 1, 197420985: 197420985
14 CRB1 NM_201253.2(CRB1): c.1172-15T> A single nucleotide variant Uncertain significance rs375141011 GRCh37 Chromosome 1, 197390115: 197390115
15 CRB1 NM_201253.2(CRB1): c.2128+15A> C single nucleotide variant Benign rs75691013 GRCh38 Chromosome 1, 197421971: 197421971
16 CRB1 NM_201253.2(CRB1): c.2128+15A> C single nucleotide variant Benign rs75691013 GRCh37 Chromosome 1, 197391101: 197391101
17 CRB1 NM_201253.2(CRB1): c.2419C> T (p.Leu807=) single nucleotide variant Uncertain significance rs371089348 GRCh37 Chromosome 1, 197396874: 197396874
18 CRB1 NM_201253.2(CRB1): c.2419C> T (p.Leu807=) single nucleotide variant Uncertain significance rs371089348 GRCh38 Chromosome 1, 197427744: 197427744
19 CRB1 NM_201253.2(CRB1): c.3878+15A> T single nucleotide variant Likely benign rs200217112 GRCh37 Chromosome 1, 197407820: 197407820
20 CRB1 NM_201253.2(CRB1): c.3878+15A> T single nucleotide variant Likely benign rs200217112 GRCh38 Chromosome 1, 197438690: 197438690
21 CRB1 NM_201253.2(CRB1): c.2715G> A (p.Arg905=) single nucleotide variant Likely benign rs534108312 GRCh37 Chromosome 1, 197398617: 197398617
22 CRB1 NM_201253.2(CRB1): c.2715G> A (p.Arg905=) single nucleotide variant Likely benign rs534108312 GRCh38 Chromosome 1, 197429487: 197429487
23 CRB1 NM_201253.2(CRB1): c.2917C> G (p.Leu973Val) single nucleotide variant Uncertain significance rs886045786 GRCh37 Chromosome 1, 197403910: 197403910
24 CRB1 NM_201253.2(CRB1): c.2917C> G (p.Leu973Val) single nucleotide variant Uncertain significance rs886045786 GRCh38 Chromosome 1, 197434780: 197434780
25 CRB1 NM_201253.2(CRB1): c.3202A> G (p.Thr1068Ala) single nucleotide variant Uncertain significance rs886045787 GRCh37 Chromosome 1, 197404195: 197404195
26 CRB1 NM_201253.2(CRB1): c.3202A> G (p.Thr1068Ala) single nucleotide variant Uncertain significance rs886045787 GRCh38 Chromosome 1, 197435065: 197435065
27 CRB1 NM_201253.2(CRB1): c.*158G> T single nucleotide variant Uncertain significance rs886045789 GRCh37 Chromosome 1, 197447167: 197447167
28 CRB1 NM_201253.2(CRB1): c.*158G> T single nucleotide variant Uncertain significance rs886045789 GRCh38 Chromosome 1, 197478037: 197478037
29 CRB1 NM_201253.2(CRB1): c.*393T> C single nucleotide variant Likely benign rs147966959 GRCh38 Chromosome 1, 197478272: 197478272
30 CRB1 NM_201253.2(CRB1): c.*393T> C single nucleotide variant Likely benign rs147966959 GRCh37 Chromosome 1, 197447402: 197447402
31 CRB1 NM_201253.2(CRB1): c.1172-12A> G single nucleotide variant Likely benign rs146175509 GRCh38 Chromosome 1, 197420988: 197420988
32 CRB1 NM_201253.2(CRB1): c.1172-12A> G single nucleotide variant Likely benign rs146175509 GRCh37 Chromosome 1, 197390118: 197390118
33 CRB1 NM_201253.2(CRB1): c.2225T> C (p.Phe742Ser) single nucleotide variant Uncertain significance rs140494140 GRCh38 Chromosome 1, 197427550: 197427550
34 CRB1 NM_201253.2(CRB1): c.2225T> C (p.Phe742Ser) single nucleotide variant Uncertain significance rs140494140 GRCh37 Chromosome 1, 197396680: 197396680
35 CRB1 NM_201253.2(CRB1): c.2230C> A (p.Arg744=) single nucleotide variant Likely benign rs150412614 GRCh37 Chromosome 1, 197396685: 197396685
36 CRB1 NM_201253.2(CRB1): c.2230C> A (p.Arg744=) single nucleotide variant Likely benign rs150412614 GRCh38 Chromosome 1, 197427555: 197427555
37 CRB1 NM_201253.2(CRB1): c.2843-13C> T single nucleotide variant Likely benign rs199808176 GRCh37 Chromosome 1, 197403823: 197403823
38 CRB1 NM_201253.2(CRB1): c.2843-13C> T single nucleotide variant Likely benign rs199808176 GRCh38 Chromosome 1, 197434693: 197434693
39 CRB1 NM_201253.2(CRB1): c.2863A> C (p.Asn955His) single nucleotide variant Uncertain significance rs886045785 GRCh37 Chromosome 1, 197403856: 197403856
40 CRB1 NM_201253.2(CRB1): c.2863A> C (p.Asn955His) single nucleotide variant Uncertain significance rs886045785 GRCh38 Chromosome 1, 197434726: 197434726
41 CRB1 NM_201253.2(CRB1): c.3228T> C (p.Asp1076=) single nucleotide variant Likely benign rs780576185 GRCh37 Chromosome 1, 197404221: 197404221
42 CRB1 NM_201253.2(CRB1): c.3228T> C (p.Asp1076=) single nucleotide variant Likely benign rs780576185 GRCh38 Chromosome 1, 197435091: 197435091
43 CRB1 NM_201253.2(CRB1): c.3397G> A (p.Val1133Met) single nucleotide variant Likely benign rs116246250 GRCh37 Chromosome 1, 197404390: 197404390
44 CRB1 NM_201253.2(CRB1): c.3397G> A (p.Val1133Met) single nucleotide variant Likely benign rs116246250 GRCh38 Chromosome 1, 197435260: 197435260
45 CRB1 NM_201253.2(CRB1): c.-204C> T single nucleotide variant Likely benign rs544047392 GRCh38 Chromosome 1, 197268209: 197268209
46 CRB1 NM_201253.2(CRB1): c.-204C> T single nucleotide variant Likely benign rs544047392 GRCh37 Chromosome 1, 197237339: 197237339
47 CRB1 NM_201253.2(CRB1): c.371T> A (p.Ile124Asn) single nucleotide variant Uncertain significance rs886045783 GRCh38 Chromosome 1, 197328722: 197328722
48 CRB1 NM_201253.2(CRB1): c.371T> A (p.Ile124Asn) single nucleotide variant Uncertain significance rs886045783 GRCh37 Chromosome 1, 197297852: 197297852
49 CRB1 NM_201253.2(CRB1): c.664G> A (p.Glu222Lys) single nucleotide variant Likely benign rs114846212 GRCh38 Chromosome 1, 197344292: 197344292
50 CRB1 NM_201253.2(CRB1): c.664G> A (p.Glu222Lys) single nucleotide variant Likely benign rs114846212 GRCh37 Chromosome 1, 197313422: 197313422

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

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74 UMLS via Orphanet
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