MCID: RTN104
MIFTS: 20

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 52 24 27 12
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 70
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 70
 
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome 54
Rpdsi 70

Characteristics:

Orphanet epidemiological data:

54
primary ciliary dyskinesia-retinitis pigmentosa syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 300455
Orphanet54 ORPHA247522
MedGen37 C2749137
MeSH39 D002925

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

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UniProtKB/Swiss-Prot:70 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:52 300455

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

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Symptoms & Phenotypes for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections,...

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Clinical features from OMIM:

300455

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

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 otitis media64 HP:0000388
2 rod-cone dystrophy64 HP:0000510
3 recurrent bronchitis64 HP:0002837
4 high-frequency hearing impairment64 HP:0005101
5 recurrent haemophilus influenzae infections64 HP:0005376
6 chronic sinusitis64 HP:0011109
7 atelectasis64 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 Deafness27 24 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:

36
Eye

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:

70
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, +1SNVPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet