MCID: RTN169
MIFTS: 24

Retinitis Pigmentosa 70

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Retinitis Pigmentosa 70

MalaCards integrated aliases for Retinitis Pigmentosa 70:

Name: Retinitis Pigmentosa 70 53 12 71 28 14 69
Rp70 53 12 71

Characteristics:

OMIM:

53
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:

OMIM 53 615922
Disease Ontology 12 DOID:0110392
ICD10 32 H35.5
MeSH 41 D012174
UMLS 69 C4014681

Summaries for Retinitis Pigmentosa 70

UniProtKB/Swiss-Prot : 71 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 human immunodeficiency virus infectious disease and immune deficiency disease, and has symptoms including rod-cone dystrophy, optic disc pallor and retinal degeneration. An important gene associated with Retinitis Pigmentosa 70 is PRPF4 (Pre-MRNA Processing Factor 4). Affiliated tissues include eye.

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 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 human immunodeficiency virus infectious disease 9.6 ERVW-1 ITIH4
2 immune deficiency disease 9.6 ERVW-1 ITIH4
3 viral infectious disease 9.5 ERVW-1 ITIH4
4 human immunodeficiency virus type 1 9.4 ERVW-1 ITIH4

Symptoms & Phenotypes for Retinitis Pigmentosa 70

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
poor night vision
restricted visual fields
impaired central vision
retinal degeneration with macular involvement
waxy pallor of optic disk
more

Clinical features from OMIM:

615922

Human phenotypes related to Retinitis Pigmentosa 70:

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

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 28 PRPF4

Anatomical Context for Retinitis Pigmentosa 70

MalaCards organs/tissues related to Retinitis Pigmentosa 70:

38
Eye

Publications for Retinitis Pigmentosa 70

Variations for Retinitis Pigmentosa 70

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

71
# 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.-114_-97del18 deletion Pathogenic rs541873609 GRCh37 Chromosome 9, 116037910: 116037927

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

Sources for Retinitis Pigmentosa 70

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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