RPY
MCID: RTN102
MIFTS: 13

Retinitis Pigmentosa, Y-Linked (RPY)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Retinitis Pigmentosa, Y-Linked

MalaCards integrated aliases for Retinitis Pigmentosa, Y-Linked:

Name: Retinitis Pigmentosa, Y-Linked 57 13
Retinitis Pigmentosa Y-Linked 12
Rpy 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
y-linked

Miscellaneous:
based on 1 4-generation chinese family
limited clinical information provided


Classifications:



External Ids:

Disease Ontology 12 DOID:0110418
OMIM® 57 400004
OMIM Phenotypic Series 57 PS268000
ICD10 32 H35.5
MedGen 41 C1839079
SNOMED-CT via HPO 68 28835009

Summaries for Retinitis Pigmentosa, Y-Linked

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation on the Y chromosome.

MalaCards based summary : Retinitis Pigmentosa, Y-Linked, also known as retinitis pigmentosa y-linked, is related to retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa, Y-Linked is RPY (Retinitis Pigmentosa, Y-Linked). Affiliated tissues include eye and retina, and related phenotype is rod-cone dystrophy.

More information from OMIM: 400004 PS268000

Related Diseases for Retinitis Pigmentosa, Y-Linked

Diseases related to Retinitis Pigmentosa, Y-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.9

Symptoms & Phenotypes for Retinitis Pigmentosa, Y-Linked

Human phenotypes related to Retinitis Pigmentosa, Y-Linked:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

400004 (Updated 20-May-2021)

Drugs & Therapeutics for Retinitis Pigmentosa, Y-Linked

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa, Y-Linked

Genetic Tests for Retinitis Pigmentosa, Y-Linked

Anatomical Context for Retinitis Pigmentosa, Y-Linked

MalaCards organs/tissues related to Retinitis Pigmentosa, Y-Linked:

40
Eye, Retina

Publications for Retinitis Pigmentosa, Y-Linked

Articles related to Retinitis Pigmentosa, Y-Linked:

# Title Authors PMID Year
1
Chinese family with retinitis pigmentosa. 57
7493160 1995

Variations for Retinitis Pigmentosa, Y-Linked

Expression for Retinitis Pigmentosa, Y-Linked

Search GEO for disease gene expression data for Retinitis Pigmentosa, Y-Linked.

Pathways for Retinitis Pigmentosa, Y-Linked

GO Terms for Retinitis Pigmentosa, Y-Linked

Sources for Retinitis Pigmentosa, Y-Linked

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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