RPY
MCID: RTN102
MIFTS: 25

Retinitis Pigmentosa, Y-Linked (RPY)

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa, Y-Linked

MalaCards integrated aliases for Retinitis Pigmentosa, Y-Linked:

Name: Retinitis Pigmentosa, Y-Linked 58 13
Retinitis Pigmentosa Y-Linked 12 15
Rpy 58 12

Characteristics:

OMIM:

58
Inheritance:
y-linked

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


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


External Ids:

Disease Ontology 12 DOID:0110418
OMIM 58 400004
ICD10 34 H35.5
MedGen 43 C1839079
SNOMED-CT via HPO 70 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 and vaginal discharge. An important gene associated with Retinitis Pigmentosa, Y-Linked is RPY (Retinitis Pigmentosa, Y-Linked). Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and behavior/neurological

Description from OMIM: 400004

Related Diseases for Retinitis Pigmentosa, Y-Linked

Diseases in the Retinitis Pigmentosa, Y-Linked family:

Retinitis Pigmentosa 2, X-Linked

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.1
2 vaginal discharge 10.3 GYPC HPSE2
3 abdominal tuberculosis 10.2 F2 TBP
4 intracranial embolism 10.2 F2 PLAT
5 marantic endocarditis 10.1 F2 PLAT
6 qualitative platelet defect 10.1 F2 WDTC1
7 thrombophlebitis 10.1 F2 PLAT
8 alcohol-related birth defect 10.1 F2 WDTC1
9 pulmonary artery disease 10.0 F2 PLAT
10 branch retinal artery occlusion 10.0 F2 WDTC1
11 dysfibrinogenemia 10.0 F2 PLAT
12 squamous cell papilloma 9.9 F2 TBP

Graphical network of the top 20 diseases related to Retinitis Pigmentosa, Y-Linked:



Diseases related to Retinitis Pigmentosa, Y-Linked

Symptoms & Phenotypes for Retinitis Pigmentosa, Y-Linked

Human phenotypes related to Retinitis Pigmentosa, Y-Linked:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

400004

MGI Mouse Phenotypes related to Retinitis Pigmentosa, Y-Linked:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 CDKN1A F2 HDGF MNT NBL1 PLAT
2 digestive/alimentary MP:0005381 9.7 CDKN1A F2 HPSE2 MNT PLAT POLB
3 mortality/aging MP:0010768 9.7 CDKN1A F2 HPSE2 MNT NOC2L PLAT
4 skeleton MP:0005390 9.23 CDKN1A F2 MNT NBL1 PLAT POLB

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:

42
Eye

Publications for Retinitis Pigmentosa, Y-Linked

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

Biological processes related to Retinitis Pigmentosa, Y-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.72 HDGF MNT NOC2L TWIST1 WDTC1
2 positive regulation of reactive oxygen species metabolic process GO:2000379 9.37 CDKN1A F2
3 negative regulation of proteolysis GO:0045861 9.26 F2 PLAT
4 fibrinolysis GO:0042730 9.16 F2 PLAT
5 response to hyperoxia GO:0055093 8.96 CDKN1A POLB
6 negative regulation of histone acetylation GO:0035067 8.62 NOC2L TWIST1

Sources for Retinitis Pigmentosa, Y-Linked

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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