INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2

General Information (adopted from Orphanet):

Synonyms, Signs: IPD2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 300640
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002007) Frontal bossing 16950813 IBIS 366 / 7739
2
(HPO:0000668) Hypodontia 16950813 IBIS 81 / 7739
3
(HPO:0011065) Conical incisor 16950813 IBIS 5 / 7739
4
(HPO:0000958) Dry skin 16950813 IBIS 152 / 7739
5
(HPO:0005366) Recurrent streptococcus pneumoniae infections 16950813 IBIS 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ku et al. (2007) described a 4.5-year-old boy born to unrelated Belgian parents in whom recurrent invasive pneumococcal disease (IPD) as the only clinical infectious manifestation of an inherited disorder in nuclear factor kappa-B (see 164011)-dependent immunity. The ...
Molecular genetics OMIM In the Belgian patient described by them, Ku et al. (2007) found a 518C-G transversion in exon 4 of the NEMO gene, predicted to result in an arg173-to-gly (R173G) mutation (300248.0023). The mother was heterozygous for this mutation. ...