RP24
MCID: RTN053
MIFTS: 25

Retinitis Pigmentosa 24 (RP24)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 24

MalaCards integrated aliases for Retinitis Pigmentosa 24:

Name: Retinitis Pigmentosa 24 57 12 53 13 15 72
Rp24 57 12
Rp 24 53

Characteristics:

HPO:

32
retinitis pigmentosa 24:
Inheritance x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110416
ICD10 33 H35.5
MedGen 42 C3887982
UMLS 72 C3887982

Summaries for Retinitis Pigmentosa 24

Disease Ontology : 12 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27.

MalaCards based summary : Retinitis Pigmentosa 24, also known as rp24, is related to retinitis pigmentosa and human immunodeficiency virus type 1. An important gene associated with Retinitis Pigmentosa 24 is RP24 (Retinitis Pigmentosa 24 (X-Linked Recessive)). Affiliated tissues include eye, retina and t cells, and related phenotypes are rod-cone dystrophy and cone dystrophy

More information from OMIM: 300155 PS268000

Related Diseases for Retinitis Pigmentosa 24

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 24 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.8
2 human immunodeficiency virus type 1 10.2
3 neuroretinitis 10.2
4 retinitis 10.2

Symptoms & Phenotypes for Retinitis Pigmentosa 24

Human phenotypes related to Retinitis Pigmentosa 24:

32
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 cone dystrophy 32 HP:0008020

Clinical features from OMIM:

300155

Drugs & Therapeutics for Retinitis Pigmentosa 24

Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 24

Genetic Tests for Retinitis Pigmentosa 24

Anatomical Context for Retinitis Pigmentosa 24

MalaCards organs/tissues related to Retinitis Pigmentosa 24:

41
Eye, Retina, T Cells

Publications for Retinitis Pigmentosa 24

Articles related to Retinitis Pigmentosa 24:

(show all 33)
# Title Authors PMID Year
1
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. 38 8
9792872 1998
2
In Vivo CRISPR/Cas9 Gene Editing Corrects Retinal Dystrophy in the S334ter-3 Rat Model of Autosomal Dominant Retinitis Pigmentosa. 71
26666451 2016
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 71
22234150 2012
4
Nonsyndromic Retinitis Pigmentosa Overview 71
20301590 2000
5
A longitudinal study of visual function in carriers of X-linked recessive retinitis pigmentosa. 8
10690843 2000
6
Generation and characterization of DSPP-Cerulean/DMP1-Cherry reporter mice. 38
31271259 2019
7
Importance of ocular electrophysiology in the diagnosis of retinal dystrophies. 38
30711256 2019
8
A Mutation of the Prdm9 Mouse Hybrid Sterility Gene Carried by a Transgene. 38
28374672 2017
9
[Prokaryotic expression and characterization of truncated mutant capsid protein of genotype IV hepatitis E virus]. 38
25007574 2014
10
Expression of p24 gag protein of bovine leukemia virus in insect cells and its use in immunodetection of the disease. 38
22829115 2013
11
Designing of novel antigenic peptide cocktail for the detection of antibodies to HIV-1/2 by ELISA. 38
23098841 2013
12
Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa. 38
24319336 2013
13
Molecular and biochemical approaches for characterization of antifungal trait of a potent biocontrol agent Bacillus subtilis RP24. 38
19777301 2010
14
Detection of bovine leukemia virus specific antibodies using recombinant p24-ELISA. 38
19201553 2009
15
Schistosoma mansoni antigen-driven interleukin-10 production in infected asthmatic individuals. 38
17308794 2006
16
A novel locus for X-linked retinitis pigmentosa. 38
16902723 2006
17
Heterologous expression, characterization and structural studies of a hydrophobic peptide from the HIV-1 p24 protein. 38
15629535 2005
18
Toxoplasma gondii antigens GRA1 (p24) and SAG1 (p30): a comparison of their stimulatory influence on T-cell activation and cytokine expression in in vitro cultures. 38
15860934 2005
19
Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. 38
14767561 2004
20
Identification and characterization of human MPP7 gene and mouse Mpp7 gene in silico. 38
14719143 2004
21
Identification and characterization of human BCL9L gene and mouse Bcl9l gene in silico. 38
12964048 2003
22
Urea equilibrium unfolding of the major core protein of the retrovirus feline immunodeficiency virus and its tryptophan mutants. 38
11257511 2001
23
Circular dichroism and fluorescence spectroscopic properties of the major core protein of feline immunodeficiency virus and its tryptophan mutants. Assignment of the individual contribution of the aromatic sidechains. 38
10583405 1999
24
Transcription map of Xq27: candidates for several X-linked diseases. 38
10198160 1999
25
Interaction of the capsid protein p24 (HIV-1) with sequence-derived peptides: influence on p24 dimerization. 38
9927569 1999
26
Repeated immunization with recombinant gp160 human immunodeficiency virus (HIV) envelope protein in early HIV-1 infection: evaluation of the T cell proliferative response. 38
9878016 1999
27
More reliable diagnosis of infection with human immunodeficiency virus type 1 (HIV-1) by detection of antibody IgGs to pol and gag proteins of HIV-1 and p24 antigen of HIV-1 in urine, saliva, and/or serum with highly sensitive and specific enzyme immunoassay (immune complex transfer enzyme immunoassay): a review. 38
9292394 1997
28
Chemical modification of recombinant HIV-1 capsid protein p24 leads to the release of a hidden epitope prior to changes of the overall folding of the protein. 38
8703914 1996
29
Immune complex transfer enzyme immunoassay that is more sensitive and specific than western blotting for detection of antibody immunoglobulin G to human immunodeficiency virus type 1 in serum with recombinant pol and gag proteins as antigens. 38
8548531 1995
30
Conformation and stability of recombinant HIV-1 capsid protein p24 (rp24). 38
7612658 1995
31
Measurement of human immunodeficiency virus type 1 p24 in serum by an ultrasensitive enzyme immunoassay, the two-site immune complex transfer enzyme immunoassay. 38
7714182 1995
32
A recombinant human immunodeficiency virus type-1 capsid protein (rp24): its expression, purification and physico-chemical characterization. 38
7714031 1994
33
Human immunodeficiency virus (HIV-1) gp160-specific lymphocyte proliferative responses of mononuclear leukocytes from HIV-1 recombinant gp160 vaccine recipients. 38
1995718 1991

Variations for Retinitis Pigmentosa 24

Expression for Retinitis Pigmentosa 24

Search GEO for disease gene expression data for Retinitis Pigmentosa 24.

Pathways for Retinitis Pigmentosa 24

GO Terms for Retinitis Pigmentosa 24

Cellular components related to Retinitis Pigmentosa 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bicellular tight junction GO:0005923 8.96 MPP7 LIN7B
2 MPP7-DLG1-LIN7 complex GO:0097025 8.62 MPP7 LIN7B

Biological processes related to Retinitis Pigmentosa 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exocytosis GO:0006887 8.8 STXBP5L LLGL2 LIN7B

Molecular functions related to Retinitis Pigmentosa 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.96 STXBP5L LLGL2
2 PDZ domain binding GO:0030165 8.62 LLGL2 LIN7B

Sources for Retinitis Pigmentosa 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....