MCID: RTN104
MIFTS: 16

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

Categories: Genetic diseases (common), Ear diseases

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

About this section

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

Characteristics:

HPO:

61
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 300455
MedGen34 C2749137
MeSH36 D002925

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

About this section
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 atelectasis, chronic sinusitis and recurrent haemophilus influenzae infections. 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,...

About this section

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

About this section


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 atelectasis HP:0100750
2 chronic sinusitis HP:0011109
3 recurrent haemophilus influenzae infections HP:0005376
4 high-frequency hearing impairment HP:0005101
5 recurrent bronchitis HP:0002837
6 rod-cone dystrophy HP:0000510
7 otitis media HP:0000388

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

About this section

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,...

About this section

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 RPGR

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

About this section

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

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,...

About this section
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

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

About this section

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

About this section
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