RP60
MCID: RTN160
MIFTS: 29

Retinitis Pigmentosa 60 (RP60)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 60

MalaCards integrated aliases for Retinitis Pigmentosa 60:

Name: Retinitis Pigmentosa 60 56 12 73 29 13 6 15 71
Rp60 56 12 73
Retinitis Pigmentosa, Type 60 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
retinitis pigmentosa 60:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110411
OMIM 56 613983
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
MedGen 41 C3151434
UMLS 71 C3151434

Summaries for Retinitis Pigmentosa 60

UniProtKB/Swiss-Prot : 73 Retinitis pigmentosa 60: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary : Retinitis Pigmentosa 60, also known as rp60, is related to collagen disease and bile duct adenocarcinoma. An important gene associated with Retinitis Pigmentosa 60 is PRPF6 (Pre-MRNA Processing Factor 6). Affiliated tissues include eye, bone and retina, and related phenotypes are rod-cone dystrophy and pallor

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF6 gene on chromosome 20q13.33.

More information from OMIM: 613983 PS268000

Related Diseases for Retinitis Pigmentosa 60

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
Retinitis Pigmentosa 86 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 60 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 collagen disease 9.8 MIRLET7D MIR142
2 bile duct adenocarcinoma 9.8 MIRLET7D MIR142
3 bronchial disease 9.7 MIRLET7D MIR142
4 autoimmune disease of central nervous system 9.7 MIRLET7D MIR142
5 cell type benign neoplasm 9.7 MIR142 MIR127
6 bone inflammation disease 9.5 MIR142 MIR127
7 pancreas disease 9.5 MIRLET7D MIR142 MIR127
8 female reproductive system disease 9.5 MIRLET7D MIR142 MIR127
9 reproductive system disease 9.5 MIRLET7D MIR142 MIR127
10 thoracic cancer 9.5 MIRLET7D MIR142 MIR127
11 endocrine gland cancer 9.5 MIRLET7D MIR142 MIR127
12 gastrointestinal system cancer 9.5 MIRLET7D MIR142 MIR127
13 endocrine system disease 9.5 MIRLET7D MIR142 MIR127
14 cell type cancer 9.4 MIRLET7D MIR142 MIR127
15 gastrointestinal system disease 9.4 MIRLET7D MIR142 MIR127
16 connective tissue disease 9.4 MIRLET7D MIR142 MIR127

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 60:



Diseases related to Retinitis Pigmentosa 60

Symptoms & Phenotypes for Retinitis Pigmentosa 60

Human phenotypes related to Retinitis Pigmentosa 60:

31
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 31 HP:0000510
2 pallor 31 HP:0000980
3 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
reduced visual acuity
attenuation of retinal vessels
reduced peripheral vision
reduced night vision
waxy pallor of optic discs
more

Clinical features from OMIM:

613983

Drugs & Therapeutics for Retinitis Pigmentosa 60

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 60

Genetic Tests for Retinitis Pigmentosa 60

Genetic tests related to Retinitis Pigmentosa 60:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 60 29 PRPF6

Anatomical Context for Retinitis Pigmentosa 60

MalaCards organs/tissues related to Retinitis Pigmentosa 60:

40
Eye, Bone, Retina, Kidney, Neutrophil, Pancreas

Publications for Retinitis Pigmentosa 60

Articles related to Retinitis Pigmentosa 60:

# Title Authors PMID Year
1
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. 56 6
21549338 2011
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 6
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
5
Mhp182 (P102) binds fibronectin and contributes to the recruitment of plasmin(ogen) to the Mycoplasma hyopneumoniae cell surface. 61
21951786 2012
6
Characterisation of Mycoplasma capricolum P60 surface lipoprotein and its evaluation in a recombinant ELISA. 61
17981406 2008
7
[Total hepatic ischemia and reperfusion under normal conditions and submitted to controlled hemorrhagic shock state: effects of neutrophil sequestration in kidney of rats]. 61
16186948 2005
8
Neutralization of tumor necrosis factor alpha (TNF alpha) action on cell proliferation in rat blastocysts by antisense oligodeoxyribonucleotides directed against TNF alpha p60 receptor. 61
7543296 1995
9
Characterization of bullous pemphigoid antibodies by use of recombinant bullous pemphigoid antigen proteins. 61
1940445 1991

Variations for Retinitis Pigmentosa 60

ClinVar genetic disease variations for Retinitis Pigmentosa 60:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPF6 NM_012469.4(PRPF6):c.2185C>T (p.Arg729Trp)SNV Pathogenic 31089 rs387907100 20:62658491-62658491 20:64027138-64027138
2 PRPF6 NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)SNV Uncertain significance 803627 20:62663317-62663317 20:64031964-64031964

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 60:

73
# Symbol AA change Variation ID SNP ID
1 PRPF6 p.Arg729Trp VAR_065768 rs387907100

Expression for Retinitis Pigmentosa 60

Search GEO for disease gene expression data for Retinitis Pigmentosa 60.

Pathways for Retinitis Pigmentosa 60

GO Terms for Retinitis Pigmentosa 60

Sources for Retinitis Pigmentosa 60

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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