MCID: INV007
MIFTS: 17

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 51 12 67
Recurrent Isolated Invasive Pneumococcal Disease 2 69 26
 
Ipd2 69

Classifications:



External Ids:

OMIM51 300640
MedGen36 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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UniProtKB/Swiss-Prot:69 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:51 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

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

 63
id Description HPO Frequency HPO Source Accession
1 hypodontia63 HP:0000668
2 dry skin63 HP:0000958
3 frontal bossing63 HP:0002007
4 recurrent streptococcus pneumoniae infections63 HP:0005366
5 conical incisor63 HP:0011065

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

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Drugs for Invasive Pneumococcal Disease, Recurrent Isolated, 2 (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, 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, 226

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

35
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:

69
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)SNVPathogenicrs179363866GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet