MCID: RTN051
MIFTS: 33

Retinitis Pigmentosa 22

Categories: Rare diseases, Genetic diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 22

MalaCards integrated aliases for Retinitis Pigmentosa 22:

Name: Retinitis Pigmentosa 22 53 12 49 13 14 69
Rp22 53 12
Rp 22 49

Classifications:



External Ids:

OMIM 53 602594
Disease Ontology 12 DOID:0110400
ICD10 32 H35.5
UMLS 69 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 squamous cell carcinoma of the oropharynx. 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 44)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.5
2 squamous cell carcinoma of the oropharynx 10.1 CDKN2A IL10
3 tropical endomyocardial fibrosis 10.1 IL10 IL4
4 hyperlucent lung 10.0 IL10 IL4
5 tungiasis 10.0 IL10 IL4
6 endomyocardial fibrosis 10.0 IL10 IL4
7 immunoglobulin a deficiency 1 10.0 IL10 IL4
8 baylisascariasis 10.0 IL10 IL4
9 epstein-barr virus-associated gastric carcinoma 10.0 CDKN2A IL10
10 apple allergy 10.0 IL10 IL4
11 beta-lactam allergy 10.0 IL10 IL4
12 orofacial granulomatosis 10.0 IL10 IL4
13 buruli ulcer 10.0 IL10 IL4
14 poliomyelitis 10.0 IL10 IL4
15 primary systemic mycosis 10.0 IL10 IL4
16 bardet-biedl syndrome 15 10.0 IL10 IL4
17 coccidiosis 10.0 IL10 IL4
18 eales disease 10.0 IL10 IL4
19 genital herpes 10.0 IL10 IL4
20 milk allergy 10.0 IL10 IL4
21 aphthous stomatitis 10.0 IL10 IL4
22 paranasal sinus disease 10.0 IL10 IL4
23 extrinsic cardiomyopathy 10.0 IL10 IL4
24 acute graft versus host disease 10.0 IL10 IL4
25 central nervous system lymphoma 10.0 CDKN2A IL10
26 opportunistic mycosis 10.0 IL10 IL4
27 nasal cavity disease 10.0 IL10 IL4
28 paracoccidioidomycosis 9.9 IL10 IL4
29 rheumatic heart disease 9.9 IL10 IL4
30 nose disease 9.9 IL10 IL4
31 parasitic helminthiasis infectious disease 9.9 IL10 IL4
32 leber congenital amaurosis 4 9.9
33 retinitis 9.9
34 secondary progressive multiple sclerosis 9.9 IL10 IL4
35 brucellosis 9.9 IL10 IL4
36 upper respiratory tract disease 9.8 IL10 IL4
37 leprosy 3 9.8 IL10 IL4
38 mitral valve disease 9.8 IL10 IL4
39 aggressive periodontitis 9.7 IL10 IL4
40 parasitic protozoa infectious disease 9.7 HSPA4 IL10 IL4
41 visceral leishmaniasis 9.7 HSPA4 IL10 IL4
42 leishmaniasis 9.7 HSPA4 IL10 IL4
43 spondyloarthropathy 9.7 IL10 IL4
44 rubella 9.5 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:

43
# 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:

38
Eye

Publications for Retinitis Pigmentosa 22

Articles related to Retinitis Pigmentosa 22:

# Title Authors Year
1
Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. ( 9545639 )
1998

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 9.54 CDKN2A RPL13A RPL7
2 negative regulation of endothelial cell apoptotic process GO:2000352 9.32 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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