Invasive Pneumococcal Disease, Recurrent Isolated, 2; Ipd2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Invasive Pneumococcal Disease, Recurrent Isolated, 2; Ipd2

IKBKG

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Invasive Pneumococcal Disease, Recurrent Isolated, 2; Ipd2

Fever
Frontal bossing
Hyperhidrosis
Arthritis
Dry skin
Hypodontia
Ectodermal dysplasia
Osteomyelitis
Cellulitis
Periorbital edema

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Invasive Pneumococcal Disease, Recurrent Isolated, 2; Ipd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Incontinentia Pigmenti Common Deletion Analysis. By Baylor Miraca Genetics Laboratories (United States). IKBKG Specificity 100 % Genes 100 %
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). IKBKG Specificity 100 % Genes 100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing). By Molecular Diagnostic Laboratory University of Alberta (Canada). IKBKG Specificity 100 % Genes 100 %
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation). By Molecular Diagnostic Laboratory University of Alberta (Canada). IKBKG Specificity 100 % Genes 100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...) View the complete list with 15 more genes Panel complete gene list SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM, IGLL1, XIAP, IKBKG, MRE11, MS4A1, NBN, NFKB2, NFKBIA, ATM, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2 Specificity 3 % Genes 100 %
IKBKG (NEMO) Gene Sequencing (HED). By GeneDx (United States). IKBKG Specificity 100 % Genes 100 %
IKBKG (NEMO) Gene Sequencing (IP). By GeneDx (United States). IKBKG Specificity 100 % Genes 100 %
IKBKG. Chromosome X inactivation analysis. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). IKBKG Specificity 100 % Genes 100 %

You can get up to 46 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PETTIGREW SYNDROME; PGS IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY MYOCLONIC-ASTASTIC EPILEPSY SPINOCEREBELLAR ATAXIA 38; SCA38 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2