MCID: RTN102
MIFTS: 25

Retinitis Pigmentosa, Y-Linked

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 57 13
Retinitis Pigmentosa Y-Linked 12 15
Rpy 57 12

Characteristics:

OMIM:

57
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:

OMIM 57 400004
Disease Ontology 12 DOID:0110418
ICD10 33 H35.5
MedGen 42 C1839079
SNOMED-CT via HPO 69 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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
retinitis pigmentosa


Clinical features from OMIM:

400004

Human phenotypes related to Retinitis Pigmentosa, Y-Linked:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 CDKN1A F2 HDGF MNT NBL1 PLAT
2 growth/size/body region MP:0005378 9.85 CDKN1A F2 HPSE2 MNT PLAT POLB
3 digestive/alimentary MP:0005381 9.8 CDKN1A F2 HPSE2 MNT PLAT POLB
4 mortality/aging MP:0010768 9.73 PRDM10 SIL1 TBP TWIST1 WDTC1 CDKN1A
5 skeleton MP:0005390 9.23 TWIST1 CDKN1A F2 MNT NBL1 PLAT

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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