MCID: RTN104
MIFTS: 17

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

Categories: Genetic diseases, Eye diseases, Respiratory diseases, Rare diseases, Ear 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 40
Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with Deafness 6
Retinitis Pigmentosa and Sinorespiratory Infections with or Without Deafness 75
X-Linked Retinitis Pigmentosa with Deafness and Sinorespiratory Infections 75
Primary Ciliary Dyskinesia-Retinitis Pigmentosa Syndrome 59
Rpdsi 75

Characteristics:

Orphanet epidemiological data:

59
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 57 300455
Orphanet 59 ORPHA247522
MedGen 42 C2749137
MeSH 44 D002925

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

UniProtKB/Swiss-Prot : 75 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, x-linked, and sinorespiratory infections, with deafness. 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 otitis media and rod-cone dystrophy

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

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:

41
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:

75
# 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
# 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 NM_000328.2(RPGR): c.517G> C (p.Gly173Arg) single nucleotide variant Pathogenic rs137852550 GRCh38 Chromosome X, 38317418: 38317418
5 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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