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 52 12 68
Recurrent Isolated Invasive Pneumococcal Disease 2 70 27
 
Ipd2 70

Classifications:



External Ids:

OMIM52 300640
MedGen37 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 hypodontia64 HP:0000668
2 dry skin64 HP:0000958
3 frontal bossing64 HP:0002007
4 recurrent streptococcus pneumoniae infections64 HP:0005366
5 conical incisor64 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

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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, 227

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

36
Skin

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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet