RP44
MCID: RTN136
MIFTS: 37

Retinitis Pigmentosa 44 (RP44)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 44

MalaCards integrated aliases for Retinitis Pigmentosa 44:

Name: Retinitis Pigmentosa 44 58 12 76 30 13 6 15 74
Rp44 58 12 76
Retinitis Pigmentosa, Type 44 41

Characteristics:

HPO:

33
retinitis pigmentosa 44:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110394
OMIM 58 613769
MeSH 45 D012174
ICD10 34 H35.5
MedGen 43 C3151068
UMLS 74 C3151068

Summaries for Retinitis Pigmentosa 44

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Retinitis Pigmentosa 44 is RGR (Retinal G Protein Coupled Receptor), and among its related pathways/superpathways are Phototransduction and Interleukin-10 signaling. Affiliated tissues include eye, bone and prostate, and related phenotypes are rod-cone dystrophy and constriction of peripheral visual field

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 Retinitis Pigmentosa 83
Retinitis Pigmentosa 84 Retinitis Pigmentosa 85
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 44 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 oligocone trichromacy 10.3 CNGA3 CNGB3
2 achromatopsia 4 10.3 CNGA3 CNGB3
3 jalili syndrome 10.3 CNGA3 CNGB3
4 achromatopsia 2 10.3 CNGA3 CNGB3
5 cone-rod dystrophy 8 10.3 CNGA3 CNGB3
6 cone-rod dystrophy 9 10.3 CNGA3 CNGB3
7 choroid disease 10.3 CNGB3 RPGR
8 blue cone monochromacy 10.3 CNGA3 CNGB3
9 color blindness 10.3 CNGA3 CNGB3
10 retinitis pigmentosa 56 10.2 CYP2B6 RDH12
11 achromatopsia 3 10.2 CNGA3 CNGB3
12 stargardt disease 10.1 CNGB3 RDH12 RPGR
13 retinal disease 10.1 CNGB3 RDH12 RPGR
14 tungiasis 10.1 CXCL8 IL10
15 acute transverse myelitis 10.1 CXCL8 IL10
16 transverse myelitis 10.1 CXCL8 IL10
17 pouchitis 10.1 CXCL8 IL10
18 vulvovaginitis 10.1 CXCL8 IL10
19 scabies 10.1 CXCL8 IL10
20 neurosyphilis 10.1 CXCL8 IL10
21 necatoriasis 10.1 CXCL8 IL10
22 cone-rod dystrophy 6 10.1 CNGA3 CNGB3 RPGR
23 retinitis pigmentosa 26 10.1 CNGA3 CNGB3 RPGR
24 funisitis 10.1 CXCL8 IL10
25 achromatopsia 10.1 CNGA3 CNGB3 RPGR
26 radiculopathy 10.1 CXCL8 IL10
27 mycetoma 10.1 CXCL8 IL10
28 aseptic meningitis 10.1 CXCL8 IL10
29 primary peritoneal carcinoma 10.1 CXCL8 IL10
30 acute pyelonephritis 10.0 CXCL8 IL10
31 pyelonephritis 10.0 CXCL8 IL10
32 bacterial sepsis 10.0 CXCL8 IL10
33 viral encephalitis 10.0 CXCL8 IL10
34 toxicodendron dermatitis 10.0 CXCL8 IL2
35 streptococcal toxic-shock syndrome 10.0 CXCL8 IL2
36 trichomoniasis 10.0 CXCL8 IL2
37 crohn's colitis 10.0 CXCL8 IL2
38 capillary leak syndrome 10.0 CXCL8 IL2
39 cervicitis 10.0 CXCL8 IL2
40 necrotizing fasciitis 10.0 CXCL8 IL2
41 nose disease 10.0 CXCL8 IL10
42 leptospirosis 9.9 CXCL8 IL10
43 wells syndrome 9.9 CXCL8 IL2
44 peptic ulcer disease 9.9 CXCL8 IL10
45 leber congenital amaurosis 9.9 CNGA3 CNGB3 RDH12 RPGR
46 gaucher disease, type ii 9.9 IL10 IL2
47 pleurisy 9.9 CXCL8 IL2
48 shigellosis 9.9 CXCL8 IL10
49 autoimmune gastritis 9.9 IL10 IL2
50 chronic active epstein-barr virus infection 9.9 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

Human phenotypes related to Retinitis Pigmentosa 44:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 constriction of peripheral visual field 33 HP:0001133
3 attenuation of retinal blood vessels 33 HP:0007843
4 retinal pigment epithelial atrophy 33 HP:0007722
5 decreased light- and dark-adapted electroretinogram amplitude 33 HP:0000654

Clinical features from OMIM:

613769

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

27 (show all 33)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 CNGA3 IL10 RGR RPGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.88 CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.88 IL10
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.88 CNGA3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.88 RPGR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.88 RGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.88 IL10
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.88 RGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.88 IL10
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.88 IL10
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.88 RPGR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.88 IL10
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 IL10
14 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.88 RPGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.88 RGR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.88 IL10
17 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.88 RPGR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.88 IL10
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.88 IL10
20 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.88 IL10
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.88 CNGA3
22 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 RGR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.88 RGR
24 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.88 RPGR
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.88 RPGR
26 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.88 RPGR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.88 IL10
28 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.88 IL10
29 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.88 IL10
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.88 RPGR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.88 IL10
32 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.88 IL10
33 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.88 IL10

MGI Mouse Phenotypes related to Retinitis Pigmentosa 44:

47
# 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 30 RGR

Anatomical Context for Retinitis Pigmentosa 44

MalaCards organs/tissues related to Retinitis Pigmentosa 44:

42
Eye, Bone, Prostate

Publications for Retinitis Pigmentosa 44

Articles related to Retinitis Pigmentosa 44:

# Title Authors Year
1
Protective effect and granuloma down-modulation promoted by RP44 antigen a fructose 1,6 bisphosphate aldolase of Schistosoma mansoni. ( 18472052 )
2008
2
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. ( 10581022 )
1999

Variations for Retinitis Pigmentosa 44

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

76
# 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
2 RGR NM_002921.3(RGR): c.196A> C (p.Ser66Arg) single nucleotide variant Uncertain significance rs104894187 GRCh37 Chromosome 10, 86007463: 86007463
3 RGR NM_002921.3(RGR): c.196A> C (p.Ser66Arg) single nucleotide variant Uncertain significance rs104894187 GRCh38 Chromosome 10, 84247707: 84247707

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 cytokine-mediated signaling pathway GO:0019221 9.5 CXCL8 IL10 IL2
2 response to stimulus GO:0050896 9.35 CNGA3 CNGB3 RDH12 RGR RPGR
3 leukocyte chemotaxis GO:0030595 9.26 CXCL8 IL10
4 response to molecule of bacterial origin GO:0002237 9.16 CXCL8 IL10
5 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 9.43 CXCL8 IL10 IL2
2 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
3 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
4 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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