MCID: RTN104
MIFTS: 20

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

Genetic diseases (common), Ear diseases categories

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

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Aliases & Descriptions for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

Name: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 49 11 22 24
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 67
 
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 67
Rpdsi 67


Classifications:



External Ids:

OMIM49 300455
MedGen34 C2749137
MeSH36 D002925

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

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UniProtKB/Swiss-Prot:67 Retinitis pigmentosa and sinorespiratory infections with or without deafness: A disease characterized by the association primary ciliary dyskinesia features with retinitis pigmentosa. Some patients also manifest deafness.

MalaCards based summary: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness, is also known as retinitis pigmentosa and sinorespiratory infections with or without deafness, and has symptoms including otitis media, rod-cone dystrophy and x-linked recessive inheritance. 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:49 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 rod-cone dystrophy 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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Interventional clinical trials:

Search ClinicalTrials, 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 Deafness22 24 RPGR

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

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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:

67
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:

5
id Gene Variation 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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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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GO Terms for genes affiliated with Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet