RP63
MCID: RTN148
MIFTS: 29

Retinitis Pigmentosa 63 (RP63)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 63

MalaCards integrated aliases for Retinitis Pigmentosa 63:

Name: Retinitis Pigmentosa 63 56 12 13 15 71
Rp63 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age at onset ranges from 16 years to 65 years


HPO:

31
retinitis pigmentosa 63:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110385
OMIM 56 614494
OMIM Phenotypic Series 56 PS268000
ICD10 32 H35.5
MedGen 41 C3281002
UMLS 71 C3281002

Summaries for Retinitis Pigmentosa 63

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23.

MalaCards based summary : Retinitis Pigmentosa 63, also known as rp63, is related to retinitis pigmentosa and cone-rod dystrophy 17. An important gene associated with Retinitis Pigmentosa 63 is RP63 (Retinitis Pigmentosa 63 (Autosomal Dominant)), and among its related pathways/superpathways is mRNA Splicing - Minor Pathway. Affiliated tissues include eye and retina, and related phenotypes are rod-cone dystrophy and nyctalopia

More information from OMIM: 614494 PS268000

Related Diseases for Retinitis Pigmentosa 63

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 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 63 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 28.5 SNRNP200 RP63 PRPF6 PRPF3 KLHL7 IMPDH1
2 cone-rod dystrophy 17 10.1 PAIP2B CCDC113
3 retinitis pigmentosa 1 10.0 PRPF3 IMPDH1
4 leber congenital amaurosis 1 9.9 IMPDH1 GUCA1B
5 leber congenital amaurosis 12 9.9 IMPDH1 GUCA1B
6 microcephalic osteodysplastic primordial dwarfism, type i 9.9 SNRNP200 PRPF3
7 retinitis pigmentosa 11 9.9 PRPF6 PRPF3
8 retinitis pigmentosa 33 9.7 SNRNP200 PRPF6 PRPF3
9 mandibulofacial dysostosis, guion-almeida type 9.7 SNRNP200 PRPF6 PRPF3
10 retinitis pigmentosa 13 9.7 SNRNP200 PRPF6 PRPF3
11 retinal disease 9.5 PRPF3 IMPDH1 GUCA1B
12 isolated growth hormone deficiency, type ia 9.5 SNRNP200 PRPF3
13 choroidal dystrophy, central areolar, 1 9.5 GUCA1B FSCN2
14 pseudoretinitis pigmentosa 9.5 PRPF3 IMPDH1 FSCN2
15 retinitis pigmentosa 31 9.5 PRPF3 IMPDH1 FSCN2
16 retinitis pigmentosa 9 9.4 PRPF3 IMPDH1 FSCN2
17 usher syndrome, type iiia 9.4 PRPF3 IMPDH1 FSCN2
18 congenital stationary night blindness 9.3 PRPF3 GUCA1B FSCN2
19 retinitis 9.2 SNRNP200 PRPF3 KLHL7 IMPDH1
20 retinal degeneration 9.0 PRPF3 IMPDH1 GUCA1B FSCN2
21 fundus dystrophy 8.1 SNRNP200 PRPF6 PRPF3 IMPDH1 GUCA1B FSCN2

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 63:



Diseases related to Retinitis Pigmentosa 63

Symptoms & Phenotypes for Retinitis Pigmentosa 63

Human phenotypes related to Retinitis Pigmentosa 63:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 nyctalopia 31 HP:0000662
3 blurred vision 31 HP:0000622
4 optic disc pallor 31 HP:0000543

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
blurred vision
night blindness
good visual acuity
disc pallor
degeneration of retinal pigment epithelium (relatively less involvement of central retina)
more

Clinical features from OMIM:

614494

MGI Mouse Phenotypes related to Retinitis Pigmentosa 63:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 ERCC6 FSCN2 GUCA1B IMPDH1 PRPF3 SNRNP200

Drugs & Therapeutics for Retinitis Pigmentosa 63

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 63

Genetic Tests for Retinitis Pigmentosa 63

Anatomical Context for Retinitis Pigmentosa 63

MalaCards organs/tissues related to Retinitis Pigmentosa 63:

40
Eye, Retina

Publications for Retinitis Pigmentosa 63

Articles related to Retinitis Pigmentosa 63:

# Title Authors PMID Year
1
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
2
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
3
Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23. 56
22083234 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000

Variations for Retinitis Pigmentosa 63

Expression for Retinitis Pigmentosa 63

Search GEO for disease gene expression data for Retinitis Pigmentosa 63.

Pathways for Retinitis Pigmentosa 63

Pathways related to Retinitis Pigmentosa 63 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.35 SNRNP200 PRPF6

GO Terms for Retinitis Pigmentosa 63

Cellular components related to Retinitis Pigmentosa 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spliceosomal complex GO:0005681 9.43 SNRNP200 PRPF6 PRPF3
2 U5 snRNP GO:0005682 9.16 SNRNP200 PRPF6
3 U2-type precatalytic spliceosome GO:0071005 9.13 SNRNP200 PRPF6 PRPF3
4 U4/U6 x U5 tri-snRNP complex GO:0046540 8.8 SNRNP200 PRPF6 PRPF3

Biological processes related to Retinitis Pigmentosa 63 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.5 SNRNP200 PRPF6 PRPF3
2 RNA splicing GO:0008380 9.43 SNRNP200 PRPF6 PRPF3
3 mRNA splicing, via spliceosome GO:0000398 9.33 SNRNP200 PRPF6 PRPF3
4 RNA splicing, via transesterification reactions GO:0000375 8.96 PRPF6 PRPF3
5 spliceosomal tri-snRNP complex assembly GO:0000244 8.62 PRPF6 PRPF3

Sources for Retinitis Pigmentosa 63

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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