RP22
MCID: RTN051
MIFTS: 23

Retinitis Pigmentosa 22 (RP22)

Categories: Ear diseases, Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 22

MalaCards integrated aliases for Retinitis Pigmentosa 22:

Name: Retinitis Pigmentosa 22 57 12 20 15 70
Rp22 57 12
Retinitis Pigmentosa-22 13
Rp 22 20

Classifications:



External Ids:

Disease Ontology 12 DOID:0110400
OMIM® 57 602594
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
UMLS 70 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 cataract 21, multiple types. An important gene associated with Retinitis Pigmentosa 22 is RP22 (Retinitis Pigmentosa 22 (Autosomal Recessive)). Affiliated tissues include retina and eye.

More information from OMIM: 602594 PS268000

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 17)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.1
2 cataract 21, multiple types 10.2 OR6C3 CRYAA
3 mitochondrial dna-associated leigh syndrome 10.1 MT-TV MT-TK
4 mitochondrial dna-associated leigh syndrome and narp 10.1 MT-TV MT-TK
5 retinitis pigmentosa 32 10.1 MT-TV MT-TK
6 retinitis pigmentosa 20 10.0 MT-TV MT-TK
7 retinitis pigmentosa 12 10.0 MT-TV MT-TK
8 retinitis pigmentosa 36 10.0 MT-TV MT-TK CDHR1
9 iris disease 9.9 LUZP2 CRYAA
10 mental retardation, autosomal dominant 30 9.9 MT-TV MT-TK
11 schistosoma mansoni infection, susceptibility/ 9.9
12 neuroretinitis 9.9
13 schistosomiasis 9.9
14 retinitis 9.9
15 cytokine deficiency 9.9
16 retinitis pigmentosa 26 9.9 CRYAA CDHR1 AQR
17 retinitis pigmentosa 14 9.8 MT-TV MT-TK AQR

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 (Updated 05-Apr-2021)

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:

40
Retina, Eye

Publications for Retinitis Pigmentosa 22

Articles related to Retinitis Pigmentosa 22:

# Title Authors PMID Year
1
Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3. 61 57
9545639 1998
2
Use of augmented reality technology for improving visual acuity of individuals with low vision. 61
32461448 2020
3
Multimethylation of Rickettsia OmpB catalyzed by lysine methyltransferases. 61
24497633 2014
4
Immunization with rP22 induces protective immunity against Schistosoma mansoni: effects on granuloma down-modulation and cytokine production. 61
21945176 2011
5
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. 61
15326156 2004
6
The ATPase domain of hsp70 possesses a unique binding specificity for 3'-sulfogalactolipids. 61
11024054 2001
7
Serodiagnosis of recently acquired Toxoplasma gondii infection using an enzyme-linked immunosorbent assay with a combination of recombinant antigens. 61
10973455 2000
8
Ribosomal proteins in cell proliferation and apoptosis. 61
10672495 1999
9
A leucine zipper-like motif and a basic region-leucine zipper-like element in rat ribosomal protein L13a. Identification of the tum- transplantation antigen P198. 61
8119894 1994
10
Establishment of lymphoblastoid cell lines from Marek's disease primary tumors. 61
6314315 1983

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

GO Terms for Retinitis Pigmentosa 22

Molecular functions related to Retinitis Pigmentosa 22 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 8.62 NNT CRYM

Sources for Retinitis Pigmentosa 22

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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