RP63
MCID: RTN148
MIFTS: 21

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 58 12 13 74
Rp63 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
retinitis pigmentosa 63:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110385
OMIM 58 614494
ICD10 34 H35.5
MedGen 43 C3281002
UMLS 74 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 and hearing loss 2. An important gene associated with Retinitis Pigmentosa 63 is RP63 (Retinitis Pigmentosa 63 (Autosomal Dominant)). Affiliated tissues include eye and retina, and related phenotypes are nyctalopia and blurred vision

Description from OMIM: 614494

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
Nonsyndromic Retinitis Pigmentosa

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

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.4
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Retinitis Pigmentosa 63

Human phenotypes related to Retinitis Pigmentosa 63:

33
# Description HPO Frequency HPO Source Accession
1 nyctalopia 33 HP:0000662
2 blurred vision 33 HP:0000622
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Eye, Retina

Publications for Retinitis Pigmentosa 63

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

GO Terms for Retinitis Pigmentosa 63

Sources for Retinitis Pigmentosa 63

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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