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 57 29 13 6 73
Ipd2 57 75
Invasive Pneumococcal Disease, Recurrent Isolated, Type 2 40
Recurrent Isolated Invasive Pneumococcal Disease 2 75

Classifications:



External Ids:

OMIM 57 300640
MedGen 42 C1845073
SNOMED-CT via HPO 69 64969001 16386004 90145001
UMLS 73 C1845073

Summaries for Invasive Pneumococcal Disease, Recurrent Isolated, 2

UniProtKB/Swiss-Prot : 75 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 Subunit Gamma). Affiliated tissues include skin, and related phenotypes are hypodontia 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

Clinical features from OMIM:

300640

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

32
# Description HPO Frequency HPO Source Accession
1 hypodontia 32 HP:0000668
2 dry skin 32 HP:0000958
3 frontal bossing 32 HP:0002007
4 recurrent streptococcus pneumoniae infections 32 HP:0005366
5 conical incisor 32 HP:0011065

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 29 IKBKG

Anatomical Context for Invasive Pneumococcal Disease, Recurrent Isolated, 2

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

41
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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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