PPCRA
MCID: PGM007
MIFTS: 42

Pigmented Paravenous Chorioretinal Atrophy (PPCRA)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pigmented Paravenous Chorioretinal Atrophy

MalaCards integrated aliases for Pigmented Paravenous Chorioretinal Atrophy:

Name: Pigmented Paravenous Chorioretinal Atrophy 57 12 72 36 29 13 6 44 15 70
Ppcra 57 72
Pprca 12 58
Pigmented Paravenous Retinochoroidal Atrophy 58
Atrophy, Chorioretinal, Pigmented Paravenous 39

Characteristics:

Orphanet epidemiological data:

58
pigmented paravenous retinochoroidal atrophy
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant vs. x-linked


HPO:

31
pigmented paravenous chorioretinal atrophy:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111541
OMIM® 57 172870
KEGG 36 H01088
MeSH 44 C566801
SNOMED-CT 67 723450004
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1868310
Orphanet 58 ORPHA251295
MedGen 41 C1868310
UMLS 70 C1868310

Summaries for Pigmented Paravenous Chorioretinal Atrophy

KEGG : 36 Pigmented paravenous chorioretinal atrophy (PPCRA) is a rare retinal disorder characterized by the presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the distribution of the retinal veins. PPCA is bilaterally symmetric, although unilateral cases have been reported. Most cases are sporadic and may represent an acquired response pattern to an infectious or inflammatory disease. There may be an autosomal dominant modes of inheritance caused by a mutation in the CRB1 gene or an X-linked inheritance mode.

MalaCards based summary : Pigmented Paravenous Chorioretinal Atrophy, also known as ppcra, is related to night blindness and hereditary retinal dystrophy. An important gene associated with Pigmented Paravenous Chorioretinal Atrophy is CRB1 (Crumbs Cell Polarity Complex Component 1), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and the visual cycle I (vertebrates). Affiliated tissues include eye, retina and bone, and related phenotypes are hypermetropia and esotropia

Disease Ontology : 12 An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has material basis in heterozygous mutation in CRB1 on chromosome 1q31.3.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Pigmented Paravenous Chorioretinal Atrophy

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 night blindness 30.6 GUCY2D CRB1 ABCA4
2 hereditary retinal dystrophy 30.4 GUCY2D CRB1 ABCA4
3 yemenite deaf-blind hypopigmentation syndrome 30.2 GUCY2D AIPL1 ABCA4
4 scotoma 29.8 GUCY2D CRB1 ABCA4
5 cone dystrophy 29.6 RDH12 GUCY2D CRB1 AIPL1 ABCA4
6 retinal degeneration 29.6 RDH12 GUCY2D CRB1 AIPL1 ABCA4
7 retinal disease 29.1 TTC8 RDH12 GUCY2D CRB1 AIPL1 ABCA4
8 fundus dystrophy 29.0 TTC8 RDH12 GUCY2D CRB1 C8orf37 AIPL1
9 retinitis pigmentosa 28.7 TTC8 RDH12 GUCY2D CRB1 C8orf37 AIPL1
10 coloboma of macula 10.4
11 macular retinal edema 10.4
12 gyrate atrophy of choroid and retina 10.3
13 mycobacterium tuberculosis 1 10.3
14 ifap syndrome 2 10.3
15 ocular tuberculosis 10.3
16 vogt-koyanagi-harada disease 10.3
17 syphilis 10.3
18 macular holes 10.3
19 measles 10.3
20 neurofibromatosis 10.3
21 neuroretinitis 10.2
22 monocular esotropia 10.2
23 alternating exotropia 10.2
24 exotropia 10.2
25 intermediate uveitis 10.2
26 uveitis 10.2
27 chronic closed-angle glaucoma 10.2
28 chronic granulomatous disease 10.2
29 retinitis 10.2
30 crohn's disease 10.2
31 senile cataract 10.2
32 esotropia 10.2
33 vitreoretinal degeneration 10.2
34 inherited retinal disorder 10.2
35 cone-rod dystrophy 17 10.2 GUCY2D AIPL1
36 cone-rod dystrophy 8 10.2 GUCY2D AIPL1
37 cone-rod dystrophy 12 10.1 GUCY2D AIPL1
38 peripheral retinal degeneration 10.1 CRB1 ABCA4
39 macular dystrophy, dominant cystoid 10.1 CRB1 ABCA4
40 chorioretinitis 10.1 CRB1 ABCA4
41 occult macular dystrophy 10.1 GUCY2D ABCA4
42 bestrophinopathy, autosomal recessive 10.1 CRB1 ABCA4
43 leber congenital amaurosis 11 10.0 RDH12 AIPL1
44 leber congenital amaurosis 14 10.0 RDH12 AIPL1
45 leber congenital amaurosis 5 10.0 RDH12 AIPL1
46 leber congenital amaurosis 15 10.0 RDH12 AIPL1
47 cone-rod dystrophy 3 10.0 GUCY2D ABCA4
48 leber congenital amaurosis 13 10.0 RDH12 AIPL1
49 retinitis pigmentosa 74 10.0 TTC8 C8orf37
50 choroid disease 10.0 GUCY2D ABCA4

Graphical network of the top 20 diseases related to Pigmented Paravenous Chorioretinal Atrophy:



Diseases related to Pigmented Paravenous Chorioretinal Atrophy

Symptoms & Phenotypes for Pigmented Paravenous Chorioretinal Atrophy

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 vitreoretinopathy 31 HP:0007773
4 bone spicule pigmentation of the retina 31 HP:0007737
5 paravenous chorioretinal atrophy 31 HP:0007903

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
vitreoretinal degeneration
esotropia
hyperopia
pigmented paravenous chorioretinal atrophy
bone corpuscle fundus pigmentation

Misc:
usually asymptomatic

Clinical features from OMIM®:

172870 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Pigmented Paravenous Chorioretinal Atrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 ABCA4 AIPL1 C8orf37 CRB1 GUCY2D RDH12

Drugs & Therapeutics for Pigmented Paravenous Chorioretinal Atrophy

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

Cochrane evidence based reviews: 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:

40
Eye, Retina, Bone

Publications for Pigmented Paravenous Chorioretinal Atrophy

Articles related to Pigmented Paravenous Chorioretinal Atrophy:

(show all 21)
# Title Authors PMID Year
1
Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. 6 57 61
15623792 2005
2
Hereditary pigmented paravenous chorioretinal atrophy. 61 57
2801856 1989
3
Hereditary pigmented paravenous chorioretinal atrophy. 57 61
3778279 1986
4
Pigmented paravenous chorioretinal atrophy. 61 57
6614113 1983
5
Natural course of ocular function in pigmented paravenous retinochoroidal atrophy. 57
16564825 2006
6
Hereditary pigmented paravenous retinochoroidal atrophy. 57
434087 1979
7
Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics. 61
33340506 2020
8
Monozygotic twins discordant for asymmetric pigmented paravenous chorioretinal atrophy. 61
32541437 2020
9
Pigmented paravenous chorioretinal atrophy revealing a chronic granulomatous disease. 61
31631731 2019
10
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort. 61
29300249 2019
11
Pigmented Paravenous Chorioretinal Atrophy (PPCRA). 61
30578495 2018
12
[A documented case of pigmented paravenous chorioretinal atrophy]. 61
25907590 2015
13
Pigmented paravenous chorioretinal atrophy with Coat's like response. 61
24212310 2013
14
Abnormalities of fundus autofluorescence in pigmented paravenous chorioretinal atrophy. 61
23264840 2012
15
Bilateral pigmented paravenous chorioretinal atrophy: a case report. 61
21829406 2011
16
Unilateral retinitis pigmentosa in a woman and pigmented paravenous chorioretinal atrophy in her daughter and son. 61
11027012 2000
17
Hereditary pigmented paravenous chorioretinal atrophy. 61
9695092 1998
18
Pigmented paravenous chorioretinal atrophy. 61
3195328 1988
19
Retinal microangiopathy in pigmented paravenous chorioretinal atrophy. 61
3676145 1987
20
Pigmented paravenous chorioretinal atrophy. 61
6696014 1984
21
Progressive nature of pigmented paravenous retinochoroidal atrophy. 61
623193 1978

Variations for Pigmented Paravenous Chorioretinal Atrophy

ClinVar genetic disease variations for Pigmented Paravenous Chorioretinal Atrophy:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRB1 NM_201253.3(CRB1):c.699T>A (p.Cys233Ter) SNV Pathogenic 931806 GRCh37: 1:197313457-197313457
GRCh38: 1:197344327-197344327
2 CRB1 NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) SNV Pathogenic 5733 rs28939720 GRCh37: 1:197396689-197396689
GRCh38: 1:197427559-197427559
3 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Pathogenic 39614 rs62645748 GRCh37: 1:197403836-197403836
GRCh38: 1:197434706-197434706
4 CRB1 NM_201253.3(CRB1):c.2708_2709del (p.His903fs) Deletion Likely pathogenic 931559 GRCh37: 1:197398610-197398611
GRCh38: 1:197429480-197429481
5 CRB1 NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) SNV Likely pathogenic 931560 GRCh37: 1:197407805-197407805
GRCh38: 1:197438675-197438675
6 CRB1 NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) SNV Conflicting interpretations of pathogenicity 39614 rs62645748 GRCh37: 1:197403836-197403836
GRCh38: 1:197434706-197434706
7 CRB1 NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) SNV Uncertain significance 99887 rs62636290 GRCh37: 1:197398583-197398583
GRCh38: 1:197429453-197429453
8 CRB1 NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) SNV Uncertain significance 99873 rs62636286 GRCh37: 1:197390993-197390993
GRCh38: 1:197421863-197421863
9 CRB1 NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) SNV Uncertain significance 374692 rs140648074 GRCh37: 1:197398648-197398648
GRCh38: 1:197429518-197429518
10 CRB1 NM_201253.3(CRB1):c.3878+9C>T SNV Uncertain significance 775014 rs1571564812 GRCh37: 1:197407814-197407814
GRCh38: 1:197438684-197438684
11 CRB1 NM_201253.3(CRB1):c.*171C>G SNV Uncertain significance 873629 GRCh37: 1:197447180-197447180
GRCh38: 1:197478050-197478050
12 CRB1 NM_201253.3(CRB1):c.411T>C (p.Pro137=) SNV Uncertain significance 874324 GRCh37: 1:197297892-197297892
GRCh38: 1:197328762-197328762
13 CRB1 NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr) SNV Uncertain significance 874383 GRCh37: 1:197390451-197390451
GRCh38: 1:197421321-197421321
14 CRB1 NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) SNV Uncertain significance 874427 GRCh37: 1:197391014-197391014
GRCh38: 1:197421884-197421884
15 CRB1 NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) SNV Uncertain significance 875506 GRCh37: 1:197446993-197446993
GRCh38: 1:197477863-197477863
16 CRB1 NM_201253.3(CRB1):c.98G>A (p.Arg33Lys) SNV Uncertain significance 876154 GRCh37: 1:197297579-197297579
GRCh38: 1:197328449-197328449
17 CRB1 NM_201253.3(CRB1):c.1878T>C (p.Ala626=) SNV Uncertain significance 876258 GRCh37: 1:197390836-197390836
GRCh38: 1:197421706-197421706
18 CRB1 NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) SNV Uncertain significance 876424 GRCh37: 1:197397091-197397091
GRCh38: 1:197427961-197427961
19 CRB1 NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) SNV Uncertain significance 875448 GRCh37: 1:197403976-197403976
GRCh38: 1:197434846-197434846
20 CRB1 NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) SNV Uncertain significance 866293 GRCh37: 1:197404096-197404096
GRCh38: 1:197434966-197434966
21 CRB1 NM_201253.3(CRB1):c.*81C>A SNV Uncertain significance 876522 GRCh37: 1:197447090-197447090
GRCh38: 1:197477960-197477960
22 CRB1 NM_201253.3(CRB1):c.*99G>T SNV Uncertain significance 876523 GRCh37: 1:197447108-197447108
GRCh38: 1:197477978-197477978
23 CRB1 NM_201253.3(CRB1):c.523G>A (p.Val175Ile) SNV Uncertain significance 930439 GRCh37: 1:197298004-197298004
GRCh38: 1:197328874-197328874
24 CRB1 NM_201253.3(CRB1):c.527C>T (p.Pro176Leu) SNV Uncertain significance 930440 GRCh37: 1:197298008-197298008
GRCh38: 1:197328878-197328878
25 CRB1 NM_201253.3(CRB1):c.4006-10A>G SNV Uncertain significance 851764 GRCh37: 1:197446784-197446784
GRCh38: 1:197477654-197477654
26 CRB1 NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) SNV Uncertain significance 294671 rs375590765 GRCh37: 1:197390465-197390465
GRCh38: 1:197421335-197421335
27 CRB1 NM_201253.3(CRB1):c.*331_*337dup Duplication Uncertain significance 294694 rs886045790 GRCh37: 1:197447336-197447337
GRCh38: 1:197478206-197478207
28 CRB1 NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) SNV Uncertain significance 294685 rs886045787 GRCh37: 1:197404195-197404195
GRCh38: 1:197435065-197435065
29 CRB1 NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) SNV Uncertain significance 294667 rs886045783 GRCh37: 1:197297852-197297852
GRCh38: 1:197328722-197328722
30 CRB1 NM_201253.3(CRB1):c.1172-15T>A SNV Uncertain significance 294669 rs375141011 GRCh37: 1:197390115-197390115
GRCh38: 1:197420985-197420985
31 CRB1 NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) SNV Uncertain significance 294678 rs886045784 GRCh37: 1:197396785-197396785
GRCh38: 1:197427655-197427655
32 CRB1 NM_201253.3(CRB1):c.*158G>T SNV Uncertain significance 294693 rs886045789 GRCh37: 1:197447167-197447167
GRCh38: 1:197478037-197478037
33 CRB1 NM_201253.3(CRB1):c.*116A>G SNV Uncertain significance 294692 rs575882211 GRCh37: 1:197447125-197447125
GRCh38: 1:197477995-197477995
34 CRB1 NM_001257965.2(CRB1):c.-212-34231C>T SNV Uncertain significance 294665 rs544047392 GRCh37: 1:197237339-197237339
GRCh38: 1:197268209-197268209
35 CRB1 NM_201253.3(CRB1):c.2863A>C (p.Asn955His) SNV Uncertain significance 294683 rs886045785 GRCh37: 1:197403856-197403856
GRCh38: 1:197434726-197434726
36 CRB1 NM_001257965.2(CRB1):c.-212-34222G>A SNV Uncertain significance 294666 rs886045782 GRCh37: 1:197237348-197237348
GRCh38: 1:197268218-197268218
37 CRB1 NM_201253.3(CRB1):c.2419C>T (p.Leu807=) SNV Uncertain significance 294679 rs371089348 GRCh37: 1:197396874-197396874
GRCh38: 1:197427744-197427744
38 CRB1 NM_201253.3(CRB1):c.*412T>C SNV Uncertain significance 294696 rs564341986 GRCh37: 1:197447421-197447421
GRCh38: 1:197478291-197478291
39 CRB1 NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) SNV Uncertain significance 294684 rs886045786 GRCh37: 1:197403910-197403910
GRCh38: 1:197434780-197434780
40 CRB1 NM_201253.3(CRB1):c.*261A>G SNV Uncertain significance 873630 GRCh37: 1:197447270-197447270
GRCh38: 1:197478140-197478140
41 CRB1 NM_201253.3(CRB1):c.*289A>G SNV Uncertain significance 874626 GRCh37: 1:197447298-197447298
GRCh38: 1:197478168-197478168
42 CRB1 NM_201253.3(CRB1):c.*324C>A SNV Uncertain significance 874627 GRCh37: 1:197447333-197447333
GRCh38: 1:197478203-197478203
43 CRB1 NM_201253.3(CRB1):c.-56C>G SNV Uncertain significance 874265 GRCh37: 1:197237487-197237487
GRCh38: 1:197268357-197268357
44 CRB1 NM_201253.3(CRB1):c.-55C>T SNV Uncertain significance 875194 GRCh37: 1:197237488-197237488
GRCh38: 1:197268358-197268358
45 CRB1 NM_201253.3(CRB1):c.639C>G (p.Pro213=) SNV Uncertain significance 875244 GRCh37: 1:197298120-197298120
GRCh38: 1:197328990-197328990
46 CRB1 NM_201253.3(CRB1):c.1496G>T (p.Gly499Val) SNV Uncertain significance 875300 GRCh37: 1:197390454-197390454
GRCh38: 1:197421324-197421324
47 CRB1 NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) SNV Likely benign 294668 rs114846212 GRCh37: 1:197313422-197313422
GRCh38: 1:197344292-197344292
48 CRB1 NM_201253.3(CRB1):c.4005+4AGC[3] Microsatellite Likely benign 294691 rs550852869 GRCh37: 1:197411425-197411426
GRCh38: 1:197442295-197442296
49 CRB1 NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) SNV Likely benign 225327 rs114052315 GRCh37: 1:197398616-197398616
GRCh38: 1:197429486-197429486
50 CRB1 NM_201253.3(CRB1):c.2715G>A (p.Arg905=) SNV Likely benign 294681 rs534108312 GRCh37: 1:197398617-197398617
GRCh38: 1:197429487-197429487

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

72
# 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

Pathways related to Pigmented Paravenous Chorioretinal Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 RDH12 GUCY2D ABCA4
2
Show member pathways
10.7 RDH12 ABCA4

GO Terms for Pigmented Paravenous Chorioretinal Atrophy

Cellular components related to Pigmented Paravenous Chorioretinal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.16 GUCY2D ABCA4
2 photoreceptor outer segment GO:0001750 9.13 GUCY2D CRB1 ABCA4
3 photoreceptor inner segment GO:0001917 8.92 RDH12 CRB1 C8orf37 AIPL1

Biological processes related to Pigmented Paravenous Chorioretinal Atrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.62 RDH12 GUCY2D AIPL1 ABCA4
2 retinoid metabolic process GO:0001523 9.37 RDH12 ABCA4
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 GUCY2D AIPL1
4 phototransduction, visible light GO:0007603 9.16 AIPL1 ABCA4
5 photoreceptor cell maintenance GO:0045494 9.13 RDH12 CRB1 ABCA4
6 visual perception GO:0007601 9.02 RDH12 GUCY2D CRB1 AIPL1 ABCA4

Sources for Pigmented Paravenous Chorioretinal Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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