MCID: RTN104
MIFTS: 11

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

Eye, Respiratory, Ear categories

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

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47OMIM, 33MalaCards
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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).

Description from OMIM:47 300455

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

Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
primary ciliary dyskinesia - retinitis pigmentosa 49


External Ids:

OMIM47 300455

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

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

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47OMIM
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Clinical features from OMIM:

300455

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

Sources:
5CenterWatch, 42NIH 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,...

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

Sources:
28inGenious Targeting Laboratory
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Publications for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

63
id Symbol AA change Variation SNP ID
1RPGRp.Gly173ArgVAR_018060

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

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,...

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet