MCID: INV008
MIFTS: 29

Invasive Pneumococcal Disease, Recurrent Isolated, 1

Categories: Genetic diseases

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

MalaCards integrated aliases for Invasive Pneumococcal Disease, Recurrent Isolated, 1:

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 1 54 29 13 69
Pneumococcal Disease, Invasive, Protection Against 54
Recurrent Isolated Invasive Pneumococcal Disease 1 71
Ipd1 71

Characteristics:

HPO:

32
invasive pneumococcal disease, recurrent isolated, 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 610799
SNOMED-CT via HPO 65 258211005

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 1

UniProtKB/Swiss-Prot : 71 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 pneumococcal disease, invasive, protection against, 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/superpathways are Toll-Like receptor Signaling Pathways and Toll-like Receptor Signaling Pathway. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related phenotype is Decreased shRNA abundance (Z-score < -2).

OMIM : 54
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, 1

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:

id Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 9.4 IRAK4 TIRAP
2 anal atresia, hypospadias, and penoscrotal inversion 9.2 IRAK4 TIRAP

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

Clinical features from OMIM:

610799

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

32
id Description HPO Frequency HPO Source Accession
1 recurrent streptococcus pneumoniae infections 32 HP:0005366

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.02 IRAK4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.02 IRAK4 TIRAP
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.02 TIRAP
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.02 TIRAP

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

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
3 Alkylating Agents Phase 1
4 Antimetabolites Phase 1
5 Antimetabolites, Antineoplastic Phase 1
6 Antirheumatic Agents Phase 1
7 Immunosuppressive Agents Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Safety and Efficacy of iPD1 CD19 eCAR T Cells in Relapsed or Refractory B-cell Lymphoma Recruiting NCT03208556 Phase 1 Fludarabine and cyclophosphamide
2 In Vivo Predictive Dissolution 1 Recruiting NCT03191045

Search NIH Clinical Center for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Genetic tests related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

id Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 1 29

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 1

MalaCards organs/tissues related to Invasive Pneumococcal Disease, Recurrent Isolated, 1:

39
T Cells, B Cells

Publications for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Variations for Invasive Pneumococcal Disease, Recurrent Isolated, 1

ClinVar genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IRAK4 IRAK4, IVS10, G-T, -1 single nucleotide variant Pathogenic
2 IRAK4 IRAK4, IVS10 +520A-G single nucleotide variant Pathogenic

Expression for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Search GEO for disease gene expression data for Invasive Pneumococcal Disease, Recurrent Isolated, 1.

Pathways for Invasive Pneumococcal Disease, Recurrent Isolated, 1

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.31 IRAK4 TIRAP
2
Show member pathways
12.23 IRAK4 TIRAP
3
Show member pathways
11.96 IRAK4 TIRAP
4
Show member pathways
11.82 IRAK4 TIRAP
5 11.62 IRAK4 TIRAP
6
Show member pathways
11.62 IRAK4 TIRAP
7
Show member pathways
11.47 IRAK4 TIRAP
8 11.13 IRAK4 TIRAP
9 10.84 IRAK4 TIRAP
10 10.44 IRAK4 TIRAP

GO Terms for Invasive Pneumococcal Disease, Recurrent Isolated, 1

Biological processes related to Invasive Pneumococcal Disease, Recurrent Isolated, 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.26 IRAK4 TIRAP
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.16 IRAK4 TIRAP
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 8.96 IRAK4 TIRAP
4 MyD88-dependent toll-like receptor signaling pathway GO:0002755 8.62 IRAK4 TIRAP

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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