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 52 12 68
Recurrent Isolated Invasive Pneumococcal Disease 1 70 27
 
Pneumococcal Disease, Invasive, Protection Against 52
Ipd1 70

Characteristics:

HPO:

64
invasive pneumococcal disease, recurrent isolated, 1:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 610799

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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UniProtKB/Swiss-Prot:70 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 fibrosis of extraocular muscles, congenital, 1 and anal atresia, hypospadias, and penoscrotal inversion, 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. Related mouse phenotype Decreased shRNA abundance (Z-score < -2).

OMIM:52 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
1fibrosis of extraocular muscles, congenital, 19.5IRAK4, TIRAP
2anal atresia, hypospadias, and penoscrotal inversion9.3IRAK4, TIRAP

Symptoms & Phenotypes for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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Clinical features from OMIM:

610799

Human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

 64
id Description HPO Frequency HPO Source Accession
1 recurrent streptococcus pneumoniae infections64 HP:0005366

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.1IRAK4, TIRAP

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
1VaccinesPhase 36428
2Heptavalent Pneumococcal Conjugate VaccinePhase 3454
3Aluminum phosphatePhase 332

Interventional clinical trials:

idNameStatusNCT IDPhase
1Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV AdultsCompletedNCT02123433Phase 3
2Impact on Carriage, Acute Otitis Media, Immuno & Safety of GSK Biologicals' Pneumococcal Conjugate Vaccine 1024850ACompletedNCT00839254Phase 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, 127

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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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, -1SNVPathogenicChr na, -1: -1
2IRAK4IRAK4, IVS10 +520A-GSNVPathogenicChr na, -1: -1

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
89.1IRAK4, TIRAP
9
Show member pathways
9.1IRAK4, 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
1innate immune responseGO:00450879.7IRAK4, TIRAP
2MyD88-dependent toll-like receptor signaling pathwayGO:00027559.7IRAK4, TIRAP
3positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.1IRAK4, TIRAP

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet