MCID: INV008
MIFTS: 26

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 49 11 65
Recurrent Isolated Invasive Pneumococcal Disease 1 67 24
 
Pneumococcal Disease, Invasive, Protection Against 49
Ipd1 67

Characteristics:

HPO:

61
invasive pneumococcal disease, recurrent isolated, 1:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 610799
UMLS65 C1835828

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 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 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
1invasive pneumococcal disease, recurrent isolated, 19.5IRAK4, TIRAP
2fibrosis of extraocular muscles, congenital, 19.4IRAK4, TIRAP
3myelocerebellar disorder9.3IRAK4, 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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Drugs for Invasive Pneumococcal Disease, Recurrent Isolated, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Aluminum phosphatePhase 330
2VaccinesPhase 36085
3Immunologic FactorsPhase 318483
4Heptavalent Pneumococcal Conjugate VaccinePhase 3440

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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MGI Mouse Phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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 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
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:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.5IRAK4, TIRAP
2MyD88-dependent toll-like receptor signaling pathwayGO:00027559.4IRAK4, TIRAP
3innate 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