MCID: RTN104
MIFTS: 21

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

Categories: Genetic diseases, Eye diseases, Respiratory diseases, Rare diseases, Ear diseases

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 50 23 25 12
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 68
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 68
 
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome 52
Rpdsi 68

Characteristics:

Orphanet epidemiological data:

52
primary ciliary dyskinesia-retinitis pigmentosa syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

62
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 300455
Orphanet52 ORPHA247522
MedGen35 C2749137
MeSH37 D002925

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

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UniProtKB/Swiss-Prot:68 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 recurrent bronchitis. 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:50 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 7)
id Description Frequency HPO Source Accession
1 otitis media HP:0000388
2 rod-cone dystrophy HP:0000510
3 recurrent bronchitis HP:0002837
4 high-frequency hearing impairment HP:0005101
5 recurrent haemophilus influenzae infections HP:0005376
6 chronic sinusitis HP:0011109
7 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 Deafness25 23 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:

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

68
id Symbol AA change Variation ID SNP ID
1RPGRp.Gly173ArgVAR_018060rs137852550

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet