RP44
MCID: RTN136
MIFTS: 33

Retinitis Pigmentosa 44 (RP44)

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

Aliases & Classifications for Retinitis Pigmentosa 44

MalaCards integrated aliases for Retinitis Pigmentosa 44:

Name: Retinitis Pigmentosa 44 57 12 72 29 13 6 15 70
Rp44 57 12 72
Retinitis Pigmentosa, Type 44 39

Characteristics:

HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0110394
OMIM® 57 613769
OMIM Phenotypic Series 57 PS268000
MeSH 44 D012174
ICD10 32 H35.5
MedGen 41 C3151068
UMLS 70 C3151068

Summaries for Retinitis Pigmentosa 44

UniProtKB/Swiss-Prot : 72 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 cone-rod dystrophy 8. An important gene associated with Retinitis Pigmentosa 44 is RGR (Retinal G Protein Coupled Receptor), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Affiliated tissues include eye and retina, 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.

More information from OMIM: 613769 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
Retinitis Pigmentosa 89 Retinitis Pigmentosa 90
Nonsyndromic Retinitis Pigmentosa

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 oligocone trichromacy 10.0 CNGB3 CNGA3
2 cone-rod dystrophy 8 10.0 CNGB3 CNGA3
3 achromatopsia 7 10.0 CNGB3 CNGA3
4 achromatopsia 9.9 CNGB3 CNGA3
5 red-green color blindness 9.9 CNGB3 CNGA3
6 color blindness 9.9 CNGB3 CNGA3
7 colorblindness, partial, protan series 9.9 CNGB3 CNGA3
8 achromatopsia 2 9.9 CNGB3 CNGA3
9 tritanopia 9.9 CNGB3 CNGA3
10 achromatopsia 3 9.9 CNGB3 CNGA3
11 achromatopsia 4 9.9 CNGB3 CNGA3
12 choroid disease 9.9 CNGB3 CNGA3
13 jalili syndrome 9.9 CNGB3 CNGA3
14 scotoma 9.9 CNGB3 CNGA3
15 blue cone monochromacy 9.9 CNGB3 CNGA3
16 prolonged electroretinal response suppression 9.9 CNGB3 CNGA3
17 congenital nystagmus 9.9 CNGB3 CNGA3
18 enhanced s-cone syndrome 9.9 CNGB3 CNGA3
19 choroideremia 9.9 CNGB3 CNGA3
20 retinoschisis 1, x-linked, juvenile 9.8 CNGB3 CNGA3
21 leber congenital amaurosis 1 9.8 CNGB3 CNGA3
22 cone-rod dystrophy 6 9.8 CNGB3 CNGA3
23 vitelliform macular dystrophy 9.7 CNGB3 CNGA3
24 congenital stationary night blindness 9.7 RGR CNGB3 CNGA3
25 retinitis pigmentosa 26 9.7 CNGB3 CNGA3 CDHR1
26 pathologic nystagmus 9.7 CNGB3 CNGA3
27 usher syndrome 9.6 CNGB3 CNGA3 CDHR1
28 macular degeneration, age-related, 1 9.6 RGR CNGB3 CNGA3
29 eye degenerative disease 9.6 CNGB3 CNGA3
30 stargardt disease 9.5 RGR CNGB3 CNGA3 CDHR1
31 retinal disease 9.5 RGR CNGB3 CNGA3 CDHR1
32 cone dystrophy 9.5 RGR CNGB3 CNGA3 CDHR1
33 leber plus disease 9.5 RGR CNGB3 CNGA3 CDHR1
34 fundus dystrophy 9.5 RGR CNGB3 CNGA3 CDHR1
35 cone-rod dystrophy 2 9.4 RGR CNGB3 CNGA3 CDHR1

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:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 constriction of peripheral visual field 31 HP:0001133
3 attenuation of retinal blood vessels 31 HP:0007843
4 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Clinical features from OMIM®:

613769 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Retinitis Pigmentosa 44:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CDHR1 CNGA3 CNGB3 RGR SAV1

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 29 RGR

Anatomical Context for Retinitis Pigmentosa 44

MalaCards organs/tissues related to Retinitis Pigmentosa 44:

40
Eye, Retina

Publications for Retinitis Pigmentosa 44

Articles related to Retinitis Pigmentosa 44:

(show all 13)
# Title Authors PMID Year
1
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 57 6
10581022 1999
2
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
3
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. 57
21067480 2010
4
Case of Human Infection with Anaplasma phagocytophilum in Inner Mongolia, China. 61
29491236 2018
5
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 61
20454696 2010
6
Molecular characterization and phylogenetic analysis of the complete genome of a porcine sapovirus from Chinese swine. 61
19961620 2009
7
Protective effect and granuloma down-modulation promoted by RP44 antigen a fructose 1,6 bisphosphate aldolase of Schistosoma mansoni. 61
18472052 2008
8
Seroprevalence of human granulocytic ehrlichiosis infection in Belgium. 61
12072927 2002
9
Western blot analysis of sera reactive to human monocytic ehrlichiosis and human granulocytic ehrlichiosis agents. 61
11682518 2001
10
Comparison of two recombinant major outer membrane proteins of the human granulocytic ehrlichiosis agent for use in an enzyme-linked immunosorbent assay. 61
10882667 2000
11
Expression of interleukin-1beta, tumor necrosis factor alpha, and interleukin-6 in human peripheral blood leukocytes exposed to human granulocytic ehrlichiosis agent or recombinant major surface protein P44. 61
10816490 2000
12
Pulsed-field gel electrophoresis is more efficient than ribotyping and random amplified polymorphic DNA analysis in discrimination of Pasteurella haemolytica strains. 61
9889223 1999
13
Cloning and expression of the 44-kilodalton major outer membrane protein gene of the human granulocytic ehrlichiosis agent and application of the recombinant protein to serodiagnosis. 61
9620397 1998

Variations for Retinitis Pigmentosa 44

ClinVar genetic disease variations for Retinitis Pigmentosa 44:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RGR RGR, 1-BP INS Insertion Pathogenic 9182 GRCh37:
GRCh38:
2 RGR NM_001012720.2(RGR):c.236G>A (p.Arg79Gln) SNV Likely pathogenic 841667 GRCh37: 10:86007503-86007503
GRCh38: 10:84247747-84247747
3 RGR NM_001012720.2(RGR):c.679del (p.Tyr227fs) Deletion Uncertain significance 930891 GRCh37: 10:86017697-86017697
GRCh38: 10:84257941-84257941
4 RGR NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) SNV Uncertain significance 9181 rs104894187 GRCh37: 10:86007463-86007463
GRCh38: 10:84247707-84247707
5 RGR NM_001012720.2(RGR):c.34G>A (p.Gly12Arg) SNV Uncertain significance 1031726 GRCh37: 10:86004880-86004880
GRCh38: 10:84245124-84245124
6 RGR NM_001012720.2(RGR):c.744+5A>G SNV Benign 167592 rs143720091 GRCh37: 10:86017767-86017767
GRCh38: 10:84258011-84258011

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

72
# Symbol AA change Variation ID SNP ID
1 RGR p.Ser66Arg VAR_017034 rs104894187

Expression for Retinitis Pigmentosa 44

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

Pathways for Retinitis Pigmentosa 44

Pathways related to Retinitis Pigmentosa 44 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 CNGB3 CNGA3

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 photoreceptor outer segment GO:0001750 8.96 RGR CNGB3
2 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

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 9.33 RGR CNGB3 CNGA3
2 cation transport GO:0006812 8.96 CNGB3 CNGA3
3 visual perception GO:0007601 8.8 RGR CNGB3 CNGA3

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Retinitis Pigmentosa 44

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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