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RP24
MCID: RTN053
MIFTS: 27

Retinitis Pigmentosa 24 (RP24)

Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes
Sources

Aliases & Classifications for Retinitis Pigmentosa 24

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MalaCards integrated aliases for Retinitis Pigmentosa 24:

Name: Retinitis Pigmentosa 24 58 12 54 13 15 74
Rp24 58 12
Rp 24 54

Characteristics:

HPO:

33
retinitis pigmentosa 24:
Inheritance x-linked inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0110416
OMIM 58 300155
ICD10 34 H35.5
MedGen 43 C3887982
SNOMED-CT via HPO 70 263934009 28835009
UMLS 74 C3887982
Sources

Summaries for Retinitis Pigmentosa 24

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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 cone-rod dystrophy and hearing loss 2. An important gene associated with Retinitis Pigmentosa 24 is RP24 (Retinitis Pigmentosa 24 (X-Linked Recessive)). Affiliated tissues include eye, and related phenotypes are rod-cone dystrophy and cone dystrophy

Description from OMIM: 300155
Sources

Related Diseases for Retinitis Pigmentosa 24

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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 11.7
2 cone-rod dystrophy and hearing loss 2 11.1
3 leber congenital amaurosis 4 10.1
4 human immunodeficiency virus type 1 10.1
5 retinitis 10.1

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 24:



Diseases related to Retinitis Pigmentosa 24
Sources

Symptoms & Phenotypes for Retinitis Pigmentosa 24

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Human phenotypes related to Retinitis Pigmentosa 24:

33
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 33 HP:0000510
2 cone dystrophy 33 HP:0008020

Clinical features from OMIM:

300155
Sources

Drugs & Therapeutics for Retinitis Pigmentosa 24

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Search Clinical Trials , NIH Clinical Center for Retinitis Pigmentosa 24

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Genetic Tests for Retinitis Pigmentosa 24

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Sources

Anatomical Context for Retinitis Pigmentosa 24

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MalaCards organs/tissues related to Retinitis Pigmentosa 24:

42
Eye
Sources

Publications for Retinitis Pigmentosa 24

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Articles related to Retinitis Pigmentosa 24:

# Title Authors Year
1
Molecular and biochemical approaches for characterization of antifungal trait of a potent biocontrol agent Bacillus subtilis RP24. ( 19777301 )
2010
2
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27. ( 9792872 )
1998
3
Conformation and stability of recombinant HIV-1 capsid protein p24 (rp24). ( 7612658 )
1995
4
A recombinant human immunodeficiency virus type-1 capsid protein (rp24): its expression, purification and physico-chemical characterization. ( 7714031 )
1994
Sources

Variations for Retinitis Pigmentosa 24

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Sources

Expression for Retinitis Pigmentosa 24

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

Pathways for Retinitis Pigmentosa 24

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Sources

GO Terms for Retinitis Pigmentosa 24

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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 LIN7B MPP7
2 MPP7-DLG1-LIN7 complex GO:0097025 8.62 LIN7B MPP7

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 LIN7B LLGL2 STXBP5L

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 LLGL2 STXBP5L
2 PDZ domain binding GO:0030165 8.62 LIN7B LLGL2
Sources

Sources for Retinitis Pigmentosa 24

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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