MCID: INV007
MIFTS: 14

Invasive Pneumococcal Disease, Recurrent Isolated, 2

Categories: Genetic diseases

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

MalaCards integrated aliases for Invasive Pneumococcal Disease, Recurrent Isolated, 2:

Name: Invasive Pneumococcal Disease, Recurrent Isolated, 2 53 28 13 69
Ipd2 53 71
Recurrent Isolated Invasive Pneumococcal Disease 2 71

Classifications:



External Ids:

OMIM 53 300640
MedGen 39 C1845073
SNOMED-CT via HPO 65 64969001 16386004 90145001
UMLS 69 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

UniProtKB/Swiss-Prot : 71 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 ipd2, 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). 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:

31
# Description HPO Frequency HPO Source Accession
1 dry skin 31 HP:0000958
2 frontal bossing 31 HP:0002007
3 hypodontia 31 HP:0000668
4 conical incisor 31 HP:0011065
5 recurrent streptococcus pneumoniae infections 31 HP:0005366

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

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 2 28 IKBKG

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

38
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:

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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