MCID: RTN136
MIFTS: 36

Retinitis Pigmentosa 44

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 44

MalaCards integrated aliases for Retinitis Pigmentosa 44:

Name: Retinitis Pigmentosa 44 53 12 71 28 13 14 69
Rp44 53 12 71

Characteristics:

HPO:

31
retinitis pigmentosa 44:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 613769
Disease Ontology 12 DOID:0110394
ICD10 32 H35.5
MedGen 39 C3151068
MeSH 41 D012174
UMLS 69 C3151068

Summaries for Retinitis Pigmentosa 44

UniProtKB/Swiss-Prot : 71 Retinitis pigmentosa 44: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 44, also known as rp44, is related to oligocone trichromacy and achromatopsia 4, and has symptoms including visual impairment, rod-cone dystrophy and decreased light- and dark-adapted electroretinogram amplitude. An important gene associated with Retinitis Pigmentosa 44 is RGR (Retinal G Protein Coupled Receptor), and among its related pathways/superpathways are Phototransduction and Immune response IFN alpha/beta signaling pathway. Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RGR gene on chromosome 10q23.

Description from OMIM: 613769

Related Diseases for Retinitis Pigmentosa 44

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 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 oligocone trichromacy 10.4 CNGA3 CNGB3
2 achromatopsia 4 10.4 CNGA3 CNGB3
3 jalili syndrome 10.4 CNGA3 CNGB3
4 achromatopsia 2 10.4 CNGA3 CNGB3
5 rhyns syndrome 10.3 RDH12 RPGR
6 retinitis pigmentosa 56 10.3 CYP2B6 RDH12
7 color blindness 10.3 CNGA3 CNGB3
8 blue cone monochromacy 10.3 CNGA3 CNGB3
9 tungiasis 10.1 CXCL8 IL10
10 stargardt disease 10.1 CNGB3 RDH12 RPGR
11 scabies 10.1 CXCL8 IL10
12 acute transverse myelitis 10.1 CXCL8 IL10
13 pouchitis 10.1 CXCL8 IL10
14 vulvovaginitis 10.1 CXCL8 IL10
15 cone-rod dystrophy 6 10.1 CNGA3 CNGB3 RPGR
16 necatoriasis 10.1 CXCL8 IL10
17 retinitis pigmentosa 26 10.1 CNGA3 CNGB3 RPGR
18 achromatopsia 10.1 CNGA3 CNGB3 RPGR
19 funisitis 10.1 CXCL8 IL10
20 trichuriasis 10.1 CXCL8 IL10
21 transverse myelitis 10.1 CXCL8 IL10
22 mycetoma 10.1 CXCL8 IL10
23 aseptic meningitis 10.1 CXCL8 IL10
24 achromatopsia 3 10.1 CNGA3 CNGB3
25 primary peritoneal carcinoma 10.0 CXCL8 IL10
26 cytomegalovirus infection 10.0 CXCL8 IL10
27 acute pyelonephritis 10.0 CXCL8 IL10
28 viral encephalitis 10.0 CXCL8 IL10
29 toxicodendron dermatitis 10.0 CXCL8 IL2
30 nasal cavity disease 10.0 CXCL8 IL10
31 streptococcal toxic-shock syndrome 10.0 CXCL8 IL2
32 bacterial vaginosis 10.0 CXCL8 IL10
33 trichomoniasis 9.9 CXCL8 IL2
34 crohn's colitis 9.9 CXCL8 IL2
35 capillary leak syndrome 9.9 CXCL8 IL2
36 necrotizing fasciitis 9.9 CXCL8 IL2
37 prostatitis 9.9 CXCL8 IL10
38 leptospirosis 9.9 CXCL8 IL10
39 wells syndrome 9.9 CXCL8 IL2
40 retinal disease 9.9 CNGA3 CNGB3 RDH12 RPGR
41 nose disease 9.9 CXCL8 IL10
42 leber congenital amaurosis 9.9 CNGA3 CNGB3 RDH12 RPGR
43 pleurisy 9.8 CXCL8 IL2
44 immune suppression 9.8 IL10 IL2
45 chronic active epstein-barr virus infection 9.8 IL10 IL2
46 intermediate uveitis 9.8 IL10 IL2
47 coccidiosis 9.8 IL10 IL2
48 hematopoietic stem cell transplantation 9.8 IL10 IL2
49 lepromatous leprosy 9.7 IL10 IL2
50 acute graft versus host disease 9.7 IL10 IL2

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 44:



Diseases related to Retinitis Pigmentosa 44

Symptoms & Phenotypes for Retinitis Pigmentosa 44

Clinical features from OMIM:

613769

Human phenotypes related to Retinitis Pigmentosa 44:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 rod-cone dystrophy 31 HP:0000510
3 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654
4 constriction of peripheral visual field 31 HP:0001133
5 retinal pigment epithelial atrophy 31 HP:0007722
6 attenuation of retinal blood vessels 31 HP:0007843

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 44 according to GeneCards Suite gene sharing:

25 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.85 IL10 RGR CNGA3 RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.85 CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.85 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.85 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.85 RGR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.85 IL10
7 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.85 RGR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.85 IL10
9 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.85 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.85 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.85 IL10
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.85 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.85 RPGR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.85 RGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.85 IL10
16 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.85 RPGR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.85 IL10
18 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.85 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.85 IL10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.85 CNGA3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.85 RGR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.85 RGR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.85 RPGR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.85 RPGR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.85 RPGR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.85 IL10
27 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.85 IL10
28 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.85 RPGR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.85 IL10
30 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.85 IL10
31 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.85 IL10

MGI Mouse Phenotypes related to Retinitis Pigmentosa 44:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.23 CNGA3 CNGB3 IL10 IL2 RDH12 RGR

Drugs & Therapeutics for Retinitis Pigmentosa 44

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 44

Genetic Tests for Retinitis Pigmentosa 44

Genetic tests related to Retinitis Pigmentosa 44:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 44 28 RGR

Anatomical Context for Retinitis Pigmentosa 44

MalaCards organs/tissues related to Retinitis Pigmentosa 44:

38
Eye

Publications for Retinitis Pigmentosa 44

Variations for Retinitis Pigmentosa 44

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 44:

71
# Symbol AA change Variation ID SNP ID
1 RGR p.Ser66Arg VAR_017034

ClinVar genetic disease variations for Retinitis Pigmentosa 44:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RGR RGR, 1-BP INS insertion Pathogenic

Expression for Retinitis Pigmentosa 44

Search GEO for disease gene expression data for Retinitis Pigmentosa 44.

Pathways for Retinitis Pigmentosa 44

GO Terms for Retinitis Pigmentosa 44

Cellular components related to Retinitis Pigmentosa 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

Biological processes related to Retinitis Pigmentosa 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.35 CNGA3 CNGB3 RDH12 RGR RPGR
2 response to molecule of bacterial origin GO:0002237 9.16 CXCL8 IL10
3 visual perception GO:0007601 9.02 CNGA3 CNGB3 RDH12 RGR RPGR

Molecular functions related to Retinitis Pigmentosa 44 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.33 CXCL8 IL10 IL2
2 cGMP binding GO:0030553 8.96 CNGA3 CNGB3
3 intracellular cGMP activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Retinitis Pigmentosa 44

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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