IPD2
MCID: INV007
MIFTS: 15

Invasive Pneumococcal Disease, Recurrent Isolated, 2 (IPD2)

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 58 30 13 6 74
Ipd2 58 76
Invasive Pneumococcal Disease, Recurrent Isolated, Type 2 41
Recurrent Isolated Invasive Pneumococcal Disease 2 76

Classifications:



External Ids:

OMIM 58 300640
MedGen 43 C1845073
SNOMED-CT via HPO 70 16386004 64969001 90145001
UMLS 74 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Invasive Pneumococcal Disease, Recurrent Isolated, 2 is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma). Affiliated tissues include skin, and related phenotypes are frontal bossing and dry 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

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

33
# Description HPO Frequency HPO Source Accession
1 frontal bossing 33 HP:0002007
2 dry skin 33 HP:0000958
3 hypodontia 33 HP:0000668
4 conical incisor 33 HP:0011065
5 recurrent streptococcus pneumoniae infections 33 HP:0005366

Clinical features from OMIM:

300640

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 What is the Incidence of an Immune Disorder in Children With Invasive Pneumococcal Disease (IPD)? Recruiting NCT03815357

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:

# Genetic test Affiliating Genes
1 Invasive Pneumococcal Disease, Recurrent Isolated, 2 30 IKBKG

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

42
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:

76
# 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
2 IKBKG NM_003639.4(IKBKG): c.517C> G (p.Arg173Gly) single nucleotide variant Pathogenic rs179363866 GRCh38 Chromosome X, 154558649: 154558649

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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