MCID: INV008
MIFTS: 25

Invasive Pneumococcal Disease, Recurrent Isolated, 1 malady

Category: Genetic diseases (common)

Aliases & Classifications for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Aliases & Descriptions for Invasive Pneumococcal Disease, Recurrent Isolated, 1:

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 1 50 12
Recurrent Isolated Invasive Pneumococcal Disease 1 68 25
 
Pneumococcal Disease, Invasive, Protection Against 50
Ipd1 68

Characteristics:

HPO:

62
invasive pneumococcal disease, recurrent isolated, 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 610799

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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UniProtKB/Swiss-Prot:68 Recurrent isolated invasive pneumococcal disease 1: Recurrent invasive pneumococcal disease (IPD) is defined as two episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains. Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD.

MalaCards based summary: Invasive Pneumococcal Disease, Recurrent Isolated, 1, also known as recurrent isolated invasive pneumococcal disease 1, is related to invasive pneumococcal disease, recurrent isolated, 1 and fibrosis of extraocular muscles, congenital, 1, and has symptoms including recurrent streptococcus pneumoniae infections An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated, 1 is IRAK4 (Interleukin 1 Receptor Associated Kinase 4), and among its related pathways are Development FGFR signaling pathway and TRAF Pathway.

OMIM:50 Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether... (610799) more...

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Diseases in the Invasive Pneumococcal Disease, Recurrent Isolated, 1 family:

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Diseases related to Invasive Pneumococcal Disease, Recurrent Isolated, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1invasive pneumococcal disease, recurrent isolated, 19.5IRAK4, TIRAP
2fibrosis of extraocular muscles, congenital, 19.4IRAK4, TIRAP
3anal atresia, hypospadias, and penoscrotal inversion9.2IRAK4, TIRAP

Symptoms for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Clinical features from OMIM:

610799

HPO human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

id Description Frequency HPO Source Accession
1 recurrent streptococcus pneumoniae infections HP:0005366

Drugs & Therapeutics for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Impact on Carriage, Acute Otitis Media, Immuno & Safety of GSK Biologicals' Pneumococcal Conjugate Vaccine 1024850ACompletedNCT00839254Phase 3
2Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV AdultsCompletedNCT02123433Phase 3

Search NIH Clinical Center for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Genetic tests related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

id Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 125

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Animal Models for Invasive Pneumococcal Disease, Recurrent Isolated, 1 or affiliated genes

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Publications for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Variations for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Clinvar genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IRAK4IRAK4, IVS10, G-T, -1single nucleotide variantPathogenic
2IRAK4IRAK4, IVS10 +520A-Gsingle nucleotide variantPathogenic

Expression for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Search GEO for disease gene expression data for Invasive Pneumococcal Disease, Recurrent Isolated, 1.

Pathways for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Pathways related to Invasive Pneumococcal Disease, Recurrent Isolated, 1 according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1IRAK4, TIRAP
2
Show member pathways
9.1IRAK4, TIRAP
3
Show member pathways
9.1IRAK4, TIRAP
4
Show member pathways
9.1IRAK4, TIRAP
59.1IRAK4, TIRAP
6
Show member pathways
9.1IRAK4, TIRAP
79.1IRAK4, TIRAP
8
Show member pathways
9.1IRAK4, TIRAP
99.1IRAK4, TIRAP
10
Show member pathways
9.1IRAK4, TIRAP
119.1IRAK4, TIRAP

GO Terms for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Biological processes related to Invasive Pneumococcal Disease, Recurrent Isolated, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MyD88-dependent toll-like receptor signaling pathwayGO:00027559.6IRAK4, TIRAP
2positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.6IRAK4, TIRAP
3innate immune responseGO:00450879.1IRAK4, TIRAP

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet