IPD1
MCID: INV021
MIFTS: 35

Invasive Pneumococcal Disease, Recurrent Isolated (IPD1)

Categories: Genetic diseases

Aliases & Classifications for Invasive Pneumococcal Disease, Recurrent Isolated

MalaCards integrated aliases for Invasive Pneumococcal Disease, Recurrent Isolated:

Name: Invasive Pneumococcal Disease, Recurrent Isolated 56 6
Invasive Pneumococcal Disease, Recurrent Isolated, 1 56 29 13 6 39
Invasive Pneumococcal Disease, Protection Against 29 6
Ipd1 56 73
Pneumococcal Disease, Invasive, Protection Against 56
Recurrent Isolated Invasive Pneumococcal Disease 1 73

Characteristics:

HPO:

31
invasive pneumococcal disease, recurrent isolated:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 610799
SNOMED-CT via HPO 68 258211005

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated

UniProtKB/Swiss-Prot : 73 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, also known as invasive pneumococcal disease, recurrent isolated, 1, is related to immunodeficiency 33 and polydactyly, preaxial i. An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated is IRAK4 (Interleukin 1 Receptor Associated Kinase 4), and among its related pathways/superpathways are Akt Signaling and Toll-like Receptor Signaling Pathway. The drugs Vaccines and Heptavalent Pneumococcal Conjugate Vaccine have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotypes are recurrent streptococcus pneumoniae infections and Decreased shRNA abundance (Z-score < -2)

OMIM : 56 Recurrent invasive pneumococcal disease (IPD) is defined as 2 episodes of IPD occurring at least 1 month apart, whether caused by the same or different serotypes or strains (Ku et al., 2007). Recurrent IPD occurs in at least 2% of patients in most series, making IPD the most important known risk factor for subsequent IPD. (610799)

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated

Graphical network of the top 20 diseases related to Invasive Pneumococcal Disease, Recurrent Isolated:



Diseases related to Invasive Pneumococcal Disease, Recurrent Isolated

Symptoms & Phenotypes for Invasive Pneumococcal Disease, Recurrent Isolated

Human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated:

31
# Description HPO Frequency HPO Source Accession
1 recurrent streptococcus pneumoniae infections 31 HP:0005366

Clinical features from OMIM:

610799

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

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.47 IKBKG
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-157 9.47 TIRAP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.47 IRAK4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 9.47 TIRAP
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.47 IKBKG
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 9.47 TIRAP
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.47 TIRAP
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.47 IKBKG
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.47 IKBKG IRAK4
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-63 9.47 IRAK4
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.47 TIRAP
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 9.47 TIRAP
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-90 9.47 TIRAP

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 8.92 G6PD IKBKG IRAK4 TIRAP

Drugs & Therapeutics for Invasive Pneumococcal Disease, Recurrent Isolated

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 2, Phase 3
2 Heptavalent Pneumococcal Conjugate Vaccine Phase 2, Phase 3
3 Immunologic Factors Phase 2, Phase 3
4
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
5
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
6 Alkylating Agents Phase 1
7 Immunosuppressive Agents Phase 1
8 Antirheumatic Agents Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial to Compare a 1-dose vs. 2-dose Priming Schedule of 13-valent Pneumococcal Conjugate Vaccine in Canadian Infants; a Canadian Immunization Research Network (CIRN) Study Active, not recruiting NCT03384589 Phase 2, Phase 3
2 Pilot Study of Autologous Anti-CD19 4-1BB CAR T Cells With Cell-intrinsic PD1 Inhibition in Relapsed or Refractory B-cell Lymphoma Unknown status NCT03208556 Phase 1 Fludarabine and cyclophosphamide
3 What is the Incidence of an Immune Disorder in Children With Invasive Pneumococcal Disease (IPD)? A Prospective Cohort Study. Recruiting NCT03815357

Search NIH Clinical Center for Invasive Pneumococcal Disease, Recurrent Isolated

Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated

Genetic tests related to Invasive Pneumococcal Disease, Recurrent Isolated:

# Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 1 29 IRAK4 TIRAP
2 Invasive Pneumococcal Disease, Protection Against 29

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated

MalaCards organs/tissues related to Invasive Pneumococcal Disease, Recurrent Isolated:

40
T Cells, B Cells

Publications for Invasive Pneumococcal Disease, Recurrent Isolated

Articles related to Invasive Pneumococcal Disease, Recurrent Isolated:

(show all 11)
# Title Authors PMID Year
1
A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis. 56 6
17322885 2007
2
IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. 56 6
16950813 2007
3
Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations. 6
18305471 2008
4
A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis. 6
16991088 2006
5
Cloning, E. coli overexpression, purification and binding properties of TraA and TraC, two proteins involved in the pheromone-dependent conjugation process in enterococci. 61
18468916 2008
6
Specificity of the TraA-DNA interaction in the regulation of the pPD1-encoded sex pheromone response in Enterococcus faecalis. 61
18579153 2008
7
Light-dependent polyploidy control by a CUE protein variant in Arabidopsis. 61
16897495 2006
8
Functional analysis of TraA, the sex pheromone receptor encoded by pPD1, in a promoter region essential for the mating response in Enterococcus faecalis. 61
12399504 2002
9
Molecular mechanism of peptide-specific pheromone signaling in Enterococcus faecalis: functions of pheromone receptor TraA and pheromone-binding protein TraC encoded by plasmid pPD1. 61
9457843 1998
10
Cloning and characterization of a region of Enterococcus faecalis plasmid pPD1 encoding pheromone inhibitor (ipd), pheromone sensitivity (traC), and pheromone shutdown (traB) genes. 61
7559344 1995
11
Isolation and structure of the sex pheromone inhibitor, iPD1, excreted by Streptococcus faecalis donor strains harboring plasmid pPD1. 61
3104314 1987

Variations for Invasive Pneumococcal Disease, Recurrent Isolated

ClinVar genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIRAP NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu)SNV protective 4467 rs8177374 11:126162843-126162843 11:126292948-126292948
2 IRAK4 NM_016123.3(IRAK4):c.1189-1G>TSNV Pathogenic 3841 rs1565688667 12:44180201-44180201 12:43786398-43786398
3 IRAK4 NM_016123.3(IRAK4):c.1188+520A>GSNV Uncertain significance 3842 rs944235493 12:44178047-44178047 12:43784244-43784244

Expression for Invasive Pneumococcal Disease, Recurrent Isolated

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

Pathways for Invasive Pneumococcal Disease, Recurrent Isolated

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 TIRAP IRAK4 IKBKG
2
Show member pathways
12.6 TIRAP IRAK4 IKBKG
3
Show member pathways
12.29 TIRAP IRAK4 IKBKG
4
Show member pathways
12.16 TIRAP IRAK4 IKBKG
5
Show member pathways
11.98 TIRAP IRAK4 IKBKG
6
Show member pathways
11.89 IRAK4 IKBKG
7
Show member pathways
11.88 TIRAP IRAK4 IKBKG
8 11.86 TIRAP IRAK4 IKBKG
9
Show member pathways
11.85 IRAK4 IKBKG
10 11.82 IRAK4 IKBKG
11 11.81 TIRAP IRAK4
12 11.78 TIRAP IRAK4 IKBKG
13
Show member pathways
11.71 TIRAP IRAK4 IKBKG
14 11.63 IRAK4 IKBKG
15
Show member pathways
11.55 TIRAP IRAK4 IKBKG
16 11.4 TIRAP IRAK4
17 11.33 TIRAP IRAK4
18 11.16 IKBKG G6PD
19 11.15 TIRAP IRAK4 IKBKG
20 10.8 TIRAP IRAK4 IKBKG

GO Terms for Invasive Pneumococcal Disease, Recurrent Isolated

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.43 TIRAP IRAK4 IKBKG
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.37 TIRAP IKBKG
3 interleukin-1-mediated signaling pathway GO:0070498 9.32 IRAK4 IKBKG
4 JNK cascade GO:0007254 9.16 IRAK4 IKBKG
5 MyD88-dependent toll-like receptor signaling pathway GO:0002755 8.96 TIRAP IRAK4
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 8.8 TIRAP IRAK4 IKBKG

Molecular functions related to Invasive Pneumococcal Disease, Recurrent Isolated according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.8 TIRAP IKBKG G6PD

Sources for Invasive Pneumococcal Disease, Recurrent Isolated

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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