MCID: RTN051
MIFTS: 31

Retinitis Pigmentosa 22

Categories: Rare diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Retinitis Pigmentosa 22

MalaCards integrated aliases for Retinitis Pigmentosa 22:

Name: Retinitis Pigmentosa 22 57 12 53 13 15 73
Rp22 57 12
Rp 22 53

Classifications:



External Ids:

OMIM 57 602594
Disease Ontology 12 DOID:0110400
ICD10 33 H35.5
UMLS 73 C3887981

Summaries for Retinitis Pigmentosa 22

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1.

MalaCards based summary : Retinitis Pigmentosa 22, also known as rp22, is related to retinitis pigmentosa and tropical endomyocardial fibrosis. An important gene associated with Retinitis Pigmentosa 22 is RP22 (Retinitis Pigmentosa 22 (Autosomal Recessive)), and among its related pathways/superpathways are Interleukin-10 signaling and Th2 Differentiation Pathway. Affiliated tissues include eye, and related phenotypes are endocrine/exocrine gland and reproductive system

Description from OMIM: 602594

Related Diseases for Retinitis Pigmentosa 22

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 22 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.5
2 tropical endomyocardial fibrosis 10.1 IL10 IL4
3 hyperlucent lung 10.1 IL10 IL4
4 tungiasis 10.1 IL10 IL4
5 epstein-barr virus-associated gastric carcinoma 10.1 CDKN2A IL10
6 endomyocardial fibrosis 10.1 IL10 IL4
7 immunoglobulin a deficiency 1 10.1 IL10 IL4
8 baylisascariasis 10.1 IL10 IL4
9 apple allergy 10.1 IL10 IL4
10 beta-lactam allergy 10.1 IL10 IL4
11 buruli ulcer 10.1 IL10 IL4
12 primary systemic mycosis 10.1 IL10 IL4
13 poliomyelitis 10.1 IL10 IL4
14 orofacial granulomatosis 10.0 IL10 IL4
15 bardet-biedl syndrome 15 10.0 IL10 IL4
16 coccidiosis 10.0 IL10 IL4
17 eales disease 10.0 IL10 IL4
18 genital herpes 10.0 IL10 IL4
19 milk allergy 10.0 IL10 IL4
20 aphthous stomatitis 10.0 IL10 IL4
21 paranasal sinus disease 10.0 IL10 IL4
22 central nervous system lymphoma 10.0 CDKN2A IL10
23 extrinsic cardiomyopathy 10.0 IL10 IL4
24 acute graft versus host disease 10.0 IL10 IL4
25 rheumatic heart disease 10.0 IL10 IL4
26 keratoconjunctivitis sicca 10.0 IL10 IL4
27 nasal cavity disease 10.0 IL10 IL4
28 opportunistic mycosis 9.9 IL10 IL4
29 paracoccidioidomycosis 9.9 IL10 IL4
30 leber congenital amaurosis 4 9.9
31 retinitis 9.9
32 nose disease 9.9 IL10 IL4
33 secondary progressive multiple sclerosis 9.9 IL10 IL4
34 brucellosis 9.9 IL10 IL4
35 parasitic helminthiasis infectious disease 9.8 IL10 IL4
36 upper respiratory tract disease 9.8 IL10 IL4
37 leprosy 3 9.8 IL10 IL4
38 aggressive periodontitis 9.8 IL10 IL4
39 mitral valve disease 9.7 IL10 IL4
40 spondyloarthropathy 9.7 IL10 IL4
41 food allergy 9.6 IL10 IL4
42 parasitic protozoa infectious disease 9.5 HSPA4 IL10 IL4
43 visceral leishmaniasis 9.5 HSPA4 IL10 IL4
44 leishmaniasis 9.5 HSPA4 IL10 IL4
45 allergic contact dermatitis 9.5 IL10 IL4
46 rubella 9.2 IL10 IL4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 22:



Diseases related to Retinitis Pigmentosa 22

Symptoms & Phenotypes for Retinitis Pigmentosa 22

Clinical features from OMIM:

602594

MGI Mouse Phenotypes related to Retinitis Pigmentosa 22:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 CDKN2A CRYM HSPA4 IL10 IL4 RPL13A
2 reproductive system MP:0005389 9.43 CDKN2A CLN8 FLVCR1 HSPA4 IL10 IL4
3 respiratory system MP:0005388 9.02 CDKN2A FLVCR1 IL10 IL4 RPL13A

Drugs & Therapeutics for Retinitis Pigmentosa 22

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 22

Genetic Tests for Retinitis Pigmentosa 22

Anatomical Context for Retinitis Pigmentosa 22

MalaCards organs/tissues related to Retinitis Pigmentosa 22:

41
Eye

Publications for Retinitis Pigmentosa 22

Variations for Retinitis Pigmentosa 22

Expression for Retinitis Pigmentosa 22

Search GEO for disease gene expression data for Retinitis Pigmentosa 22.

Pathways for Retinitis Pigmentosa 22

Pathways related to Retinitis Pigmentosa 22 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.95 IL10 IL4
2 10.82 IL10 IL4
3 10.43 IL10 IL4
4 10.04 IL10 IL4

GO Terms for Retinitis Pigmentosa 22

Biological processes related to Retinitis Pigmentosa 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.5 CDKN2A RPL13A RPL7
2 negative regulation of endothelial cell apoptotic process GO:2000352 9.37 IL10 IL4
3 negative regulation of B cell proliferation GO:0030889 9.26 CDKN2A IL10
4 positive regulation of MHC class II biosynthetic process GO:0045348 9.16 IL10 IL4
5 type 2 immune response GO:0042092 8.96 IL10 IL4
6 regulation of isotype switching GO:0045191 8.62 IL10 IL4

Sources for Retinitis Pigmentosa 22

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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