MCID: INV008
MIFTS: 18

Invasive Pneumococcal Disease, Recurrent Isolated, 1 malady

Genetic diseases (common) category

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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OMIM:47 Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether... (610799) more...

MalaCards based summary: Invasive Pneumococcal Disease, Recurrent Isolated, 1, is also known as pneumococcal disease, invasive, protection against, 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 Tuberculosis and NOD-like Receptor Signaling Pathways.

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

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

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 1 47 11
 
Pneumococcal Disease, Invasive, Protection Against 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 610799

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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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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Drug clinical trials:

Search ClinicalTrials for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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:

7
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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TIRAP, IRAK4
2
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways60
Immune response IL 1 signaling pathway60
9.1IRAK4, TIRAP
3
Show member pathways
Toll-like receptor signaling pathway38
Regulation of toll-like receptor signaling pathway38
9.1TIRAP, IRAK4
4
Show member pathways
9.1TIRAP, IRAK4
5
Show member pathways
9.1IRAK4, TIRAP
6
Show member pathways
Immune response MIF in innate immunity response60
9.1TIRAP, IRAK4
79.1TIRAP, IRAK4
8
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
9.1TIRAP, IRAK4
99.1IRAK4, TIRAP
109.1TIRAP, IRAK4

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

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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/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1toll-like receptor TLR1:TLR2 signaling pathwayGO:00381239.3TIRAP, IRAK4
2toll-like receptor TLR6:TLR2 signaling pathwayGO:00381249.2TIRAP, IRAK4
3toll-like receptor 2 signaling pathwayGO:00341349.2TIRAP, IRAK4
4MyD88-dependent toll-like receptor signaling pathwayGO:00027559.1TIRAP, IRAK4
5innate immune responseGO:00450879.1IRAK4, TIRAP
6toll-like receptor 4 signaling pathwayGO:00341429.0IRAK4, TIRAP
7toll-like receptor signaling pathwayGO:00022248.8IRAK4, TIRAP

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet