MCID: RTN104
MIFTS: 16

Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness malady

Genetic diseases, Eye diseases, Respiratory diseases, Rare diseases, Ear diseases categories

Summaries for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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48OMIM, 34MalaCards
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MalaCards: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness, is also known as primary ciliary dyskinesia - retinitis pigmentosa An important gene associated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness is RPGR (retinitis pigmentosa GTPase regulator). Affiliated tissues include eye.

Description from OMIM:48 300455

Aliases & Classifications for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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21GeneTests, 23GTR, 48OMIM, 50Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
primary ciliary dyskinesia - retinitis pigmentosa:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 21 23 48
primary ciliary dyskinesia - retinitis pigmentosa 50


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OMIM48 300455

Related Diseases for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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Symptoms for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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48OMIM
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Clinical features from OMIM:

300455

Drugs & Therapeutics for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness

Search NIH Clinical Center for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness

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Genetic Tests for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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21GeneTests, 23GTR
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Genetic tests related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

id Genetic test Affiliating Genes
1 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness21 23 RPGR

Anatomical Context for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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34MalaCards
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MalaCards organs/tissues related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

34
Eye

Animal Models for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,... or affiliated genes

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Publications for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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Variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

65
id Symbol AA change Variation ID SNP ID
1RPGRp.Gly173ArgVAR_018060

Clinvar genetic disease variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

1
id Gene Name Type Significance SNP ID Assembly Location
1RPGRRPGR, IVS5, G-T, +1single nucleotide variantPathogenic

Expression for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness

Search GEO for disease gene expression data for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness.

Pathways for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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Compounds for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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GO Terms for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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Products for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet