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

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MalaCards based summary: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness, is also known as primary ciliary dyskinesia - retinitis pigmentosa and has symptoms including 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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Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness, Aliases & Descriptions:

Name: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 20 22 46
 
Primary Ciliary Dyskinesia - Retinitis Pigmentosa 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
primary ciliary dyskinesia - retinitis pigmentosa:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

OMIM46 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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Clinical features from OMIM:

300455

HPO human phenotypes related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

(show all 8)
id Description Frequency HPO Source Accession
1 otitis media HP:0000388
2 retinitis pigmentosa HP:0000510
3 x-linked recessive inheritance HP:0001419
4 recurrent bronchitis HP:0002837
5 high-frequency hearing impairment HP:0005101
6 recurrent haemophilus influenzae infections HP:0005376
7 chronic sinusitis HP:0011109
8 atelectasis HP:0100750

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

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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

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

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

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

64
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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet