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
Download this MalaCard

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

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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). Affiliated tissues include eye.

Description from OMIM:47 300455

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

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet
See all sources

Classifications:



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,...

About this section

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

About this section
Sources:
47OMIM
See all sources


Clinical features from OMIM:

300455

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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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,...

About this section
Sources:
20GeneTests, 22GTR
See all sources

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,...

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

33
Eye

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

About this section

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

About this section

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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:

1
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,...

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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,...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet