MCID: RTN136
MIFTS: 33

Retinitis Pigmentosa 44

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 44

MalaCards integrated aliases for Retinitis Pigmentosa 44:

Name: Retinitis Pigmentosa 44 57 12 75 29 13 6 15 73
Rp44 57 12 75
Retinitis Pigmentosa, Type 44 40

Characteristics:

HPO:

32
retinitis pigmentosa 44:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613769
Disease Ontology 12 DOID:0110394
ICD10 33 H35.5
MedGen 42 C3151068
MeSH 44 D012174
UMLS 73 C3151068

Summaries for Retinitis Pigmentosa 44

UniProtKB/Swiss-Prot : 75 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 Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related phenotypes are visual impairment and rod-cone dystrophy

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 all 21)
# Related Disease Score Top Affiliating Genes
1 oligocone trichromacy 10.3 CNGA3 CNGB3
2 achromatopsia 4 10.2 CNGA3 CNGB3
3 jalili syndrome 10.2 CNGA3 CNGB3
4 achromatopsia 2 10.2 CNGA3 CNGB3
5 blue cone monochromacy 10.2 CNGA3 CNGB3
6 color blindness 10.1 CNGA3 CNGB3
7 achromatopsia 3 10.0 CNGA3 CNGB3
8 choroid disease 10.0 CNGB3 RPGR
9 retinoschisis 1, x-linked, juvenile 10.0 CNGB3 RPGR
10 cone dystrophy 9.9 CNGB3 RPGR
11 retinitis pigmentosa 56 9.9 CYP2B6 RDH12
12 stargardt disease 9.7 CNGB3 RDH12 RPGR
13 cone-rod dystrophy 6 9.7 CNGA3 CNGB3 RPGR
14 retinitis pigmentosa 26 9.7 CNGA3 CNGB3 RPGR
15 cone-rod dystrophy 2 9.7 CNGB3 RPGR
16 achromatopsia 9.7 CNGA3 CNGB3 RPGR
17 retinal disease 9.3 CNGA3 CNGB3 RDH12 RPGR
18 leber congenital amaurosis 9.2 CNGA3 CNGB3 RDH12 RPGR
19 ewing sarcoma 9.1 CNGA3 CNGB3 RDH12
20 retinitis pigmentosa 9.0 CNGA3 RDH12 RGR RPGR
21 fundus dystrophy 8.9 CNGA3 CNGB3 RDH12 RGR RPGR

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:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 rod-cone dystrophy 32 HP:0000510
3 decreased light- and dark-adapted electroretinogram amplitude 32 HP:0000654
4 constriction of peripheral visual field 32 HP:0001133
5 retinal pigment epithelial atrophy 32 HP:0007722
6 attenuation of retinal blood vessels 32 HP:0007843

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

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.6 RPGR CNGA3 RGR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 CNGA3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.6 CNGA3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.6 RPGR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.6 RGR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.6 RGR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.6 RPGR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.6 RPGR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.6 RGR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.6 RPGR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.6 CNGA3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.6 RGR
13 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 RGR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.6 RPGR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.6 RPGR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.6 RPGR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.6 RPGR

MGI Mouse Phenotypes related to Retinitis Pigmentosa 44:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CNGA3 CNGB3 RDH12 RGR RPGR 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:

41
Eye

Publications for Retinitis Pigmentosa 44

Variations for Retinitis Pigmentosa 44

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

75
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.32 CNGA3 CNGB3 RDH12
2 10.77 CNGA3 CNGB3 RDH12

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 9.13 CNGB3 RGR RPGR
2 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 signal transduction GO:0007165 9.65 CNGA3 CNGB3 CXCL8 RGR SAV1
2 response to stimulus GO:0050896 9.35 CNGA3 CNGB3 RDH12 RGR RPGR
3 cation transport GO:0006812 9.32 CNGA3 CNGB3
4 cation transmembrane transport GO:0098655 9.16 CNGA3 CNGB3
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 voltage-gated potassium channel activity GO:0005249 9.26 CNGA3 CNGB3
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....