MCID: INV007
MIFTS: 14

Invasive Pneumococcal Disease, Recurrent Isolated, 2 malady

Category: Genetic diseases (common)

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

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

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 2 50 12
Recurrent Isolated Invasive Pneumococcal Disease 2 68 25
 
Ipd2 68

Classifications:



External Ids:

OMIM50 300640
MedGen35 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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UniProtKB/Swiss-Prot:68 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 hypodontia, dry skin and frontal bossing. An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated, 2 is IKBKG (Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase Gamma). Affiliated tissues include skin.

Description from OMIM:50 300640

Related Diseases for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

invasive pneumococcal disease, recurrent isolated, 2

Symptoms for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Clinical features from OMIM:

300640

HPO human phenotypes related to Invasive Pneumococcal Disease, Recurrent Isolated, 2:

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

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

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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, 2

Genetic Tests for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

id Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 225

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

34
Skin

Animal Models for Invasive Pneumococcal Disease, Recurrent Isolated, 2 or affiliated genes

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Publications for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Variations for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

68
id Symbol AA change Variation ID SNP ID
1IKBKGp.Arg173GlyVAR_031958rs179363866

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1IKBKGNM_003639.4(IKBKG): c.517C> G (p.Arg173Gly)single nucleotide variantPathogenicrs179363866GRCh37Chr X, 153786864: 153786864

Expression for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

Pathways for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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GO Terms for genes affiliated with Invasive Pneumococcal Disease, Recurrent Isolated, 2

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Sources for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet