IPD2
MCID: INV007
MIFTS: 16

Invasive Pneumococcal Disease, Recurrent Isolated, 2 (IPD2) malady

Categories: Genetic diseases

Aliases & Classifications for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Aliases & Descriptions for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 2 54 13 69
Recurrent Isolated Invasive Pneumococcal Disease 2 66 29
Ipd2 66

Classifications:



External Ids:

OMIM 54 300640
MedGen 40 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

UniProtKB/Swiss-Prot : 66 Recurrent isolated invasive pneumococcal disease 2: 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, 2, is also known as recurrent isolated invasive pneumococcal disease 2, and has symptoms including dry skin, frontal bossing and hypodontia. An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated, 2 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Gamma). The drugs Aluminum phosphate and Heptavalent Pneumococcal Conjugate Vaccine have been mentioned in the context of this disorder. Affiliated tissues include skin.

Description from OMIM: 300640

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Diseases in the Invasive Pneumococcal Disease, Recurrent Isolated, 1 family:

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Symptoms & Phenotypes for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Clinical features from OMIM:

300640

Human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

32
id Description HPO Frequency HPO Source Accession
1 dry skin 32 HP:0000958
2 frontal bossing 32 HP:0002007
3 hypodontia 32 HP:0000668
4 conical incisor 32 HP:0011065
5 recurrent streptococcus pneumoniae infections 32 HP:0005366

Drugs & Therapeutics for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Drugs for Invasive Pneumococcal Disease, Recurrent Isolated, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Aluminum phosphate Phase 3
2 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
3 Vaccines Phase 3

Interventional clinical trials:


id Name Status NCT ID Phase
1 Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV Adults Completed NCT02123433 Phase 3
2 Impact on Carriage, Acute Otitis Media, Immuno & Safety of GSK Biologicals' Pneumococcal Conjugate Vaccine 1024850A Completed NCT00839254 Phase 3

Search NIH Clinical Center for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Genetic tests related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

id Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 2 29

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

MalaCards organs/tissues related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

39
Skin

Publications for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2

UniProtKB/Swiss-Prot genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

66
id Symbol AA change Variation ID SNP ID
1 IKBKG p.Arg173Gly VAR_031958 rs179363866

ClinVar genetic disease variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IKBKG NM_003639.4(IKBKG): c.517C> G (p.Arg173Gly) single nucleotide variant Pathogenic rs179363866 GRCh37 Chromosome X, 153786864: 153786864

Expression for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Search GEO for disease gene expression data for Invasive Pneumococcal Disease, Recurrent Isolated, 2.

Pathways for Invasive Pneumococcal Disease, Recurrent Isolated, 2

GO Terms for Invasive Pneumococcal Disease, Recurrent Isolated, 2

Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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