RPDSI
MCID: RTN104
MIFTS: 22

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

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

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

MalaCards integrated aliases for Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness:

Name: Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 57 29 13 6 39
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with Deafness 6
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 72
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 72
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome 58
Rpdsi 72

Characteristics:

Orphanet epidemiological data:

58
primary ciliary dyskinesia-retinitis pigmentosa syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

31
retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases


External Ids:

OMIM® 57 300455
MeSH 44 D002925
Orphanet 58 ORPHA247522
MedGen 41 C2749137

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

UniProtKB/Swiss-Prot : 72 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, also known as retinitis pigmentosa, x-linked, and sinorespiratory infections, with deafness, is related to x-linked retinitis pigmentosa and sinorespiratory infections. 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, and related phenotypes are atelectasis and otitis media

More information from OMIM: 300455

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

Diseases related to Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked retinitis pigmentosa and sinorespiratory infections 11.5

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atelectasis 31 HP:0100750
2 otitis media 31 HP:0000388
3 rod-cone dystrophy 31 HP:0000510
4 recurrent bronchitis 31 HP:0002837
5 high-frequency hearing impairment 31 HP:0005101
6 chronic sinusitis 31 HP:0011109
7 recurrent haemophilus influenzae infections 31 HP:0005376

Clinical features from OMIM®:

300455 (Updated 05-Apr-2021)

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:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 29 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:

40
Eye

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

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

# Title Authors PMID Year
1
RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. 57 6
16055928 2006
2
Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. 57 6
14627685 2003
3
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections. 6 57
12920075 2003
4
Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). 6 57
10094550 1999
5
A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. 57 6
1733835 1992
6
Abnormal axonemes in X-linked retinitis pigmentosa. 57
3345154 1988
7
Variations in the ultrastructure of human nasal cilia including abnormalities found in retinitis pigmentosa. 57
7400333 1980
8
Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa. 57
450098 1979

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPGR RPGR, 2-BP DEL, 845TG Deletion Pathogenic 9915 GRCh37:
GRCh38:
2 RPGR RPGR, 57-BP DEL, NT631 Deletion Pathogenic 9919 GRCh37:
GRCh38:
3 RPGR NM_000328.3(RPGR):c.517G>C (p.Gly173Arg) SNV Pathogenic 9916 rs137852550 GRCh37: X:38176671-38176671
GRCh38: X:38317418-38317418
4 RPGR NM_000328.3(RPGR):c.469+1G>T SNV Pathogenic 9912 rs62638646 GRCh37: X:38178081-38178081
GRCh38: X:38318828-38318828

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

72
# Symbol AA change Variation ID SNP ID
1 RPGR p.Gly173Arg VAR_018060 rs137852550

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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