RPDSI
MCID: RTN104
MIFTS: 20

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

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

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

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 54 24 29 13
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 66
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 66
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome 56
Rpdsi 66

Characteristics:

Orphanet epidemiological data:

56
primary ciliary dyskinesia-retinitis pigmentosa syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300455
Orphanet 56 ORPHA247522
MedGen 40 C2749137
MeSH 42 D002925

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

UniProtKB/Swiss-Prot : 66 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, otitis media and rod-cone dystrophy. 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: 300455

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

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

Clinical features from OMIM:

300455

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

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 atelectasis 32 HP:0100750
2 otitis media 32 HP:0000388
3 rod-cone dystrophy 32 HP:0000510
4 chronic sinusitis 32 HP:0011109
5 recurrent bronchitis 32 HP:0002837
6 high-frequency hearing impairment 32 HP:0005101
7 recurrent haemophilus influenzae infections 32 HP:0005376

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

Search Clinical Trials , 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,...

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 Deafness 29 24 RPGR

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

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

39
Eye

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

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

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

66
id Symbol AA change Variation ID SNP ID
1 RPGR p.Gly173Arg VAR_018060 rs137852550

ClinVar genetic disease variations for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 RPGR RPGR, IVS5, G-T, +1 single nucleotide variant Pathogenic
2 RPGR RPGR, 2-BP DEL, 845TG deletion Pathogenic
3 RPGR NM_000328.2(RPGR): c.517G> C (p.Gly173Arg) single nucleotide variant Pathogenic rs137852550 GRCh37 Chromosome X, 38176671: 38176671
4 RPGR RPGR, 57-BP DEL, NT631 deletion Pathogenic

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

Search GEO for disease gene expression data for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....