MCID: RTN148
MIFTS: 21

Retinitis Pigmentosa 63

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 63

MalaCards integrated aliases for Retinitis Pigmentosa 63:

Name: Retinitis Pigmentosa 63 53 12 13 69
Rp63 53 12

Characteristics:

OMIM:

53
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:

OMIM 53 614494
Disease Ontology 12 DOID:0110385
ICD10 32 H35.5
MedGen 39 C3281002
UMLS 69 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 has symptoms including blurred vision, nyctalopia and rod-cone dystrophy. An important gene associated with Retinitis Pigmentosa 63 is RP63 (Retinitis Pigmentosa 63 (Autosomal Dominant)). Affiliated tissues include eye and retina.

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 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 11.2

Symptoms & Phenotypes for Retinitis Pigmentosa 63

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
night blindness
blurred vision
good visual acuity
degeneration of retinal pigment epithelium (relatively less involvement of central retina)
arterial attenuation
more

Clinical features from OMIM:

614494

Human phenotypes related to Retinitis Pigmentosa 63:

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

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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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