RP70
MCID: RTN169
MIFTS: 31

Retinitis Pigmentosa 70 (RP70)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 70

MalaCards integrated aliases for Retinitis Pigmentosa 70:

Name: Retinitis Pigmentosa 70 58 12 76 30 6 15 74
Rp70 58 12 76
Retinitis Pigmentosa, Type 70 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in the second or third decade of life


HPO:

33
retinitis pigmentosa 70:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110392
OMIM 58 615922
MeSH 45 D012174
ICD10 34 H35.5
UMLS 74 C4014681

Summaries for Retinitis Pigmentosa 70

UniProtKB/Swiss-Prot : 76 Retinitis pigmentosa 70: 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 70, also known as rp70, is related to transient cerebral ischemia and human immunodeficiency virus infectious disease. An important gene associated with Retinitis Pigmentosa 70 is PRPF4 (Pre-MRNA Processing Factor 4), and among its related pathways/superpathways are Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway and Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include eye, and related phenotypes are pallor and nyctalopia

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the PRPF4 gene on chromosome 9q32.

Description from OMIM: 615922

Related Diseases for Retinitis Pigmentosa 70

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
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 70 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 transient cerebral ischemia 9.9 HSPA1A HSPA4
2 human immunodeficiency virus infectious disease 9.8 ERVW-1 ITIH4
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.7 ERVW-1 ITIH4
4 encephalitis 9.7 ERVW-1 ITIH4
5 viral infectious disease 9.5 ERVW-1 ITIH4

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 70:



Diseases related to Retinitis Pigmentosa 70

Symptoms & Phenotypes for Retinitis Pigmentosa 70

Human phenotypes related to Retinitis Pigmentosa 70:

33
# Description HPO Frequency HPO Source Accession
1 pallor 33 HP:0000980
2 nyctalopia 33 HP:0000662
3 rod-cone dystrophy 33 HP:0000510
4 optic disc pallor 33 HP:0000543
5 retinal degeneration 33 HP:0000546

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
peripheral pigment deposits
poor night vision
restricted visual fields
impaired central vision
retinal degeneration with macular involvement
more

Clinical features from OMIM:

615922

Drugs & Therapeutics for Retinitis Pigmentosa 70

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 70

Genetic Tests for Retinitis Pigmentosa 70

Genetic tests related to Retinitis Pigmentosa 70:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 70 30 PRPF4

Anatomical Context for Retinitis Pigmentosa 70

MalaCards organs/tissues related to Retinitis Pigmentosa 70:

42
Eye

Publications for Retinitis Pigmentosa 70

Articles related to Retinitis Pigmentosa 70:

# Title Authors Year
1
PRPF4 mutations cause autosomal dominant retinitis pigmentosa. ( 24419317 )
2014

Variations for Retinitis Pigmentosa 70

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 70:

76
# Symbol AA change Variation ID SNP ID
1 PRPF4 p.Pro315Leu VAR_071872 rs587777599
2 PRPF4 p.Arg192His VAR_074029 rs41296057

ClinVar genetic disease variations for Retinitis Pigmentosa 70:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPF4 NM_004697.4(PRPF4): c.944C> T (p.Pro315Leu) single nucleotide variant Pathogenic rs587777599 GRCh37 Chromosome 9, 116050463: 116050463
2 PRPF4 NM_004697.4(PRPF4): c.944C> T (p.Pro315Leu) single nucleotide variant Pathogenic rs587777599 GRCh38 Chromosome 9, 113288183: 113288183
3 PRPF4 NM_004697.4(PRPF4): c.-114_-97del18 deletion Pathogenic rs541873609 GRCh37 Chromosome 9, 116037910: 116037927
4 PRPF4 NM_004697.4(PRPF4): c.-114_-97del18 deletion Pathogenic rs541873609 GRCh38 Chromosome 9, 113275630: 113275647

Expression for Retinitis Pigmentosa 70

Search GEO for disease gene expression data for Retinitis Pigmentosa 70.

Pathways for Retinitis Pigmentosa 70

GO Terms for Retinitis Pigmentosa 70

Cellular components related to Retinitis Pigmentosa 70 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 HSPA1A ITIH4

Biological processes related to Retinitis Pigmentosa 70 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 8.96 HSPA1A HSPA4
2 chaperone-mediated protein complex assembly GO:0051131 8.62 HSPA1A HSPA4

Sources for Retinitis Pigmentosa 70

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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