MCID: INV008
MIFTS: 20

Invasive Pneumococcal Disease, Recurrent Isolated, 1 malady

Genetic diseases (common) category

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 49 11
Recurrent Isolated Invasive Pneumococcal Disease 1 67
 
Pneumococcal Disease, Invasive, Protection Against 49
Ipd1 67


Classifications:



External Ids:

OMIM49 610799

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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UniProtKB/Swiss-Prot:67 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 irak4 deficiency and invasive pneumococcal disease, recurrent isolated, 1, and has symptoms including autosomal recessive inheritanceand 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 Toll Comparative Pathway and TRAF Pathway.

OMIM:49 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
1irak4 deficiency9.8IRAK4, TIRAP
2invasive pneumococcal disease, recurrent isolated, 19.8IRAK4, TIRAP
3myelocerebellar disorder9.7IRAK4, 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 autosomal recessive inheritance HP:0000007
2 recurrent streptococcus pneumoniae infections HP:0005366

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

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Drugs for Invasive Pneumococcal Disease, Recurrent Isolated, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Aluminum phosphatePhase 328

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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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:

idSuper pathways (with members indented)ScoreTop 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
109.1IRAK4, 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:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.5IRAK4, TIRAP
2toll-like receptor signaling pathwayGO:00022249.3IRAK4, TIRAP
3MyD88-dependent toll-like receptor signaling pathwayGO:00027559.3IRAK4, TIRAP
4toll-like receptor 2 signaling pathwayGO:00341349.3IRAK4, TIRAP
5toll-like receptor 4 signaling pathwayGO:00341429.2IRAK4, TIRAP
6toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.2IRAK4, TIRAP
7toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.1IRAK4, TIRAP
8innate immune responseGO:00450879.1IRAK4, TIRAP

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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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