MCID: PSD005
MIFTS: 24

Pseudoretinitis Pigmentosa

Categories: Eye diseases

Aliases & Classifications for Pseudoretinitis Pigmentosa

MalaCards integrated aliases for Pseudoretinitis Pigmentosa:

Name: Pseudoretinitis Pigmentosa 12 15 71
Secondary Pigmentary Retinal Degeneration 12 71
Secondary Pigmentary Degeneration of Retina 12

Classifications:



External Ids:

Disease Ontology 12 DOID:12162
ICD9CM 34 362.65
SNOMED-CT 67 35545005
ICD10 32 H35.45
UMLS 71 C0154858 C2053820

Summaries for Pseudoretinitis Pigmentosa

MalaCards based summary : Pseudoretinitis Pigmentosa, also known as secondary pigmentary retinal degeneration, is related to retinitis and retinitis pigmentosa. An important gene associated with Pseudoretinitis Pigmentosa is FSCN2 (Fascin Actin-Bundling Protein 2, Retinal). Affiliated tissues include retina, eye and lung, and related phenotypes are pigmentation and vision/eye

Related Diseases for Pseudoretinitis Pigmentosa

Diseases related to Pseudoretinitis Pigmentosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 retinitis 29.3 PRPF31 PRPF3 IMPDH1 CRB1 CERKL
2 retinitis pigmentosa 27.3 TULP1 PRPF8 PRPF31 PRPF3 IMPDH1 FSCN2
3 neuroretinitis 10.5
4 systemic lupus erythematosus 10.2
5 asymptomatic neurosyphilis 10.2
6 retinal perforation 10.2
7 melanoma 10.2
8 malignant choroid melanoma 10.2
9 rubella 10.2
10 lupus erythematosus 10.2
11 congenital rubella 10.2
12 neurosyphilis 10.2
13 choroidal dystrophy, central areolar, 1 10.1 FSCN2 CERKL
14 retinitis pigmentosa 34 10.0 PRPF31 FSCN2
15 retinitis pigmentosa 14 10.0 TULP1 CERKL
16 optic disk drusen 10.0 TULP1 CRB1
17 leber congenital amaurosis 11 9.9 IMPDH1 CRB1
18 isolated growth hormone deficiency, type ia 9.9 PRPF31 PRPF3
19 cone-rod dystrophy 6 9.9 CRB1 CERKL
20 leber congenital amaurosis 15 9.8 TULP1 IMPDH1
21 leber congenital amaurosis 5 9.8 TULP1 IMPDH1
22 retinitis pigmentosa 63 9.8 PRPF3 IMPDH1 FSCN2
23 usher syndrome type 2 9.7 TULP1 CRB1 CERKL
24 fundus albipunctatus 9.7 TULP1 CRB1 CERKL
25 mandibulofacial dysostosis, guion-almeida type 9.7 PRPF8 PRPF3
26 inherited retinal disorder 9.7 PRPF31 CRB1 CERKL
27 peripheral retinal degeneration 9.6 PRPF31 IMPDH1 CERKL
28 leber congenital amaurosis 7 9.6 TULP1 IMPDH1 CRB1
29 leber congenital amaurosis 8 9.6 TULP1 IMPDH1 CRB1
30 leber congenital amaurosis 6 9.6 TULP1 IMPDH1 CRB1
31 leber congenital amaurosis 1 9.6 TULP1 IMPDH1 CRB1
32 leber congenital amaurosis 10 9.6 TULP1 IMPDH1 CRB1
33 leber congenital amaurosis 9 9.6 TULP1 IMPDH1 CRB1
34 leber congenital amaurosis 3 9.6 TULP1 IMPDH1 CRB1
35 leber congenital amaurosis 4 9.6 TULP1 IMPDH1 CRB1
36 leber congenital amaurosis 2 9.6 TULP1 IMPDH1 CRB1
37 senior-loken syndrome 1 9.5 TULP1 IMPDH1 CRB1
38 pathologic nystagmus 9.5 TULP1 IMPDH1 CRB1
39 retinitis pigmentosa 33 9.5 PRPF8 PRPF31 PRPF3
40 microcephalic osteodysplastic primordial dwarfism, type i 9.4 PRPF8 PRPF31 PRPF3
41 retinitis pigmentosa 13 9.4 PRPF8 PRPF31 PRPF3
42 retinitis pigmentosa 18 9.4 PRPF8 PRPF31 PRPF3
43 keratoconus 9.4 TULP1 IMPDH1 CRB1
44 retinitis pigmentosa 11 9.4 PRPF8 PRPF31 PRPF3
45 stargardt disease 9.4 TULP1 PRPF31 CRB1 CERKL
46 retinitis pigmentosa 9 9.4 PRPF31 PRPF3 IMPDH1 FSCN2
47 retinitis pigmentosa 1 9.4 PRPF8 PRPF3 IMPDH1
48 joubert syndrome 1 9.3 TULP1 IMPDH1 CRB1
49 eye disease 9.3 TULP1 PRPF31 CRB1
50 cone-rod dystrophy 2 9.2 TULP1 CRB1 CERKL

Graphical network of the top 20 diseases related to Pseudoretinitis Pigmentosa:



Diseases related to Pseudoretinitis Pigmentosa

Symptoms & Phenotypes for Pseudoretinitis Pigmentosa

MGI Mouse Phenotypes related to Pseudoretinitis Pigmentosa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 CRB1 PRPF3 PRPF31 PRPF8 TULP1
2 vision/eye MP:0005391 9.23 CERKL CRB1 FSCN2 IMPDH1 PRPF3 PRPF31

Drugs & Therapeutics for Pseudoretinitis Pigmentosa

Search Clinical Trials , NIH Clinical Center for Pseudoretinitis Pigmentosa

Genetic Tests for Pseudoretinitis Pigmentosa

Anatomical Context for Pseudoretinitis Pigmentosa

MalaCards organs/tissues related to Pseudoretinitis Pigmentosa:

40
Retina, Eye, Lung

Publications for Pseudoretinitis Pigmentosa

Articles related to Pseudoretinitis Pigmentosa:

(show all 17)
# Title Authors PMID Year
1
Characteristics of syphilitic uveitis in northern China. 61
28629400 2017
2
[Unilateral retinitis pigmentosa or pseudoretinitis pigmentosa? Case report]. 61
24510090 2013
3
Pseudoretinitis pigmentosa due to sub-optimal treatment of neurosyphilis. 61
9091384 1996
4
Pseudoretinitis pigmentosa in patients with systemic lupus erythematosus. 61
8363295 1993
5
[Pseudoretinitis pigmentosa caused by congenital rubella (apropos of a case)]. 61
2598372 1989
6
[Pseudoneuritis pigmentosa in malignant melanoma of the choroid]. 61
3184743 1988
7
[Pseudoretinitis pigmentosa and the aspect of vitelliform disk of the macula. Apropos of 2 familial cases]. 61
3449286 1987
8
A non-metastatic remote effect of lung carcinoma. 61
2827979 1987
9
Atypical syphilitic chorioretinitis and vasculitis. 61
6531517 1984
10
Pseudoretinitis pigmentosa. 61
6703002 1984
11
Pseudoretinitis pigmentosa secondary to preretinal malignant melanoma cells. 61
7178677 1982
12
[Pseudoretinitis pigmentosa caused by ceporine. Apropos of 4 cases]. 61
552952 1979
13
Living retinal nematode (filarial-like) destroyed with photocoagulation. 61
733187 1978
14
[A case of post-morbillous pseudoretinitis pigmentosa]. 61
606381 1977
15
[Choroid angioma and pseudoretinitis pigmentosa]. 61
4261677 1971
16
Pseudoretinitis pigmentosa. Report of two traumatic cases of recent origin. 61
5763219 1969
17
[Disseminated tapetoretinal degeneration of "pseudoretinitis pigmentosa"?]. 61
5587237 1967

Variations for Pseudoretinitis Pigmentosa

Expression for Pseudoretinitis Pigmentosa

Search GEO for disease gene expression data for Pseudoretinitis Pigmentosa.

Pathways for Pseudoretinitis Pigmentosa

GO Terms for Pseudoretinitis Pigmentosa

Cellular components related to Pseudoretinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear speck GO:0016607 9.58 PRPF8 PRPF31 PRPF3
2 spliceosomal complex GO:0005681 9.43 PRPF8 PRPF31 PRPF3
3 photoreceptor outer segment GO:0001750 9.37 TULP1 CERKL
4 U2-type precatalytic spliceosome GO:0071005 9.33 PRPF8 PRPF31 PRPF3
5 Cajal body GO:0015030 9.32 PRPF31 PRPF3
6 photoreceptor inner segment GO:0001917 9.13 TULP1 CRB1 CERKL
7 U4/U6 x U5 tri-snRNP complex GO:0046540 8.8 PRPF8 PRPF31 PRPF3

Biological processes related to Pseudoretinitis Pigmentosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.58 PRPF8 PRPF31 PRPF3
2 RNA splicing GO:0008380 9.54 PRPF8 PRPF31 PRPF3
3 mRNA splicing, via spliceosome GO:0000398 9.43 PRPF8 PRPF31 PRPF3
4 establishment or maintenance of cell polarity GO:0007163 9.32 FSCN2 CRB1
5 RNA splicing, via transesterification reactions GO:0000375 9.16 PRPF8 PRPF3
6 eye photoreceptor cell development GO:0042462 9.13 TULP1 FSCN2 CRB1
7 spliceosomal tri-snRNP complex assembly GO:0000244 8.8 PRPF8 PRPF31 PRPF3

Sources for Pseudoretinitis Pigmentosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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