RP70
MCID: RTN169
MIFTS: 30

Retinitis Pigmentosa 70 (RP70)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 70

MalaCards integrated aliases for Retinitis Pigmentosa 70:

Name: Retinitis Pigmentosa 70 56 12 73 29 6 15 71
Rp70 56 12 73
Retinitis Pigmentosa, Type 70 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in the second or third decade of life


HPO:

31
retinitis pigmentosa 70:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110392
OMIM 56 615922
OMIM Phenotypic Series 56 PS268000
MeSH 43 D012174
ICD10 32 H35.5
UMLS 71 C4014681

Summaries for Retinitis Pigmentosa 70

UniProtKB/Swiss-Prot : 73 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 retinitis pigmentosa 69 and retinitis pigmentosa 72. An important gene associated with Retinitis Pigmentosa 70 is PRPF4 (Pre-MRNA Processing Factor 4), and among its related pathways/superpathways are Cellular Transformation by HTLV1 and Development_Glucocorticoid receptor signaling. Affiliated tissues include eye, retina and testis, 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.

More information from OMIM: 615922 PS268000

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
Retinitis Pigmentosa 86 Retinitis Pigmentosa 88
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 retinitis pigmentosa 69 10.1 POMGNT1 ARHGEF18
2 retinitis pigmentosa 72 10.0 POMGNT1 ARHGEF18
3 retinitis pigmentosa 71 10.0 POMGNT1 ARHGEF18
4 retinitis pigmentosa 73 9.8 POMGNT1 ARHGEF18

Symptoms & Phenotypes for Retinitis Pigmentosa 70

Human phenotypes related to Retinitis Pigmentosa 70:

31
# Description HPO Frequency HPO Source Accession
1 pallor 31 HP:0000980
2 nyctalopia 31 HP:0000662
3 rod-cone dystrophy 31 HP:0000510
4 optic disc pallor 31 HP:0000543
5 retinal degeneration 31 HP:0000546

Symptoms via clinical synopsis from OMIM:

56
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 29 PRPF4

Anatomical Context for Retinitis Pigmentosa 70

MalaCards organs/tissues related to Retinitis Pigmentosa 70:

40
Eye, Retina, Testis

Publications for Retinitis Pigmentosa 70

Articles related to Retinitis Pigmentosa 70:

# Title Authors PMID Year
1
PRPF4 mutations cause autosomal dominant retinitis pigmentosa. 56 6
24419317 2014
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
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. 56
24959063 2014
4
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
5
Nonsyndromic Retinitis Pigmentosa Overview 6
20301590 2000
6
Discrimination of thermostable and thermophilic lipases using support vector machines. 61
21342095 2011
7
Expression and sulfogalactolipid binding specificity of the recombinant testis-specific cognate heat shock protein 70. 61
9337084 1997
8
Characterization of the heat shock protein P70 in rat spermatogenic cells. 61
7766411 1995
9
Solution conformational preferences of immunogenic peptides derived from the principal neutralizing determinant of the HIV-1 envelope glycoprotein gp120. 61
1892828 1991

Variations for Retinitis Pigmentosa 70

ClinVar genetic disease variations for Retinitis Pigmentosa 70:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPF4 NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu)SNV Pathogenic 143057 rs587777599 9:116050463-116050463 9:113288183-113288183
2 PRPF4 NM_004697.4(PRPF4):c.-114_-97delshort repeat Pathogenic 143058 rs541873609 9:116037910-116037927 9:113275630-113275647

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

73
# Symbol AA change Variation ID SNP ID
1 PRPF4 p.Pro315Leu VAR_071872 rs587777599
2 PRPF4 p.Arg192His VAR_074029 rs41296057

Expression for Retinitis Pigmentosa 70

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

Pathways for Retinitis Pigmentosa 70

Pathways related to Retinitis Pigmentosa 70 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.86 HSPA4 HSPA1A
2 10.57 HSPA4 HSPA1A
3 10.17 HSPA4 HSPA1A

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 extracellular exosome GO:0070062 9.17 TKFC ITIH4 HSPA4 HSPA1A GBE1 EHD2

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

# Name GO ID Score Top Affiliating Genes
1 chaperone-mediated protein complex assembly GO:0051131 8.62 HSPA4 HSPA1A

Sources for Retinitis Pigmentosa 70

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
Content
Loading form....