MCID: RTN104
MIFTS: 17

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

Eye diseases, Respiratory diseases, Ear diseases categories

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

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46OMIM, 32MalaCards
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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:46 300455

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

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye diseases, Respiratory diseases, Ear diseases


Characteristics (Orphanet epidemiological data):

48
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 20 22 46
primary ciliary dyskinesia - retinitis pigmentosa 48


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OMIM46 300455

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

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Clinical Features for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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46OMIM
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Clinical features from OMIM:

300455

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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

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20GeneTests, 22GTR
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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 Deafness20 22 RPGR

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

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32MalaCards
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MalaCards organs/tissues related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

32
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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Genetic Variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

62
id Symbol AA change Variation ID SNP ID
1RPGRp.Gly173ArgVAR_018060

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

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Sources:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet