IKBKG gene related symptoms and diseases
All the information presented here about the IKBKG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IKBKG gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ectodermal dysplasia | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Common - Between 50% and 80% cases |
| Recurrent infections | Common - Between 50% and 80% cases |
| Fever | Uncommon - Between 30% and 50% cases |
| Delayed eruption of teeth | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IKBKG gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypodontia
- Hypohidrotic ectodermal dysplasia
- Lymphedema
Rarely - Less than 30% cases
- Supernumerary ribs
- Abnormal blistering of the skin
- Eosinophilia
- Keratitis
- Supernumerary nipple
And 125 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IKBKG gene
Here you will find a list of rare diseases related to the IKBKG. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
INCONTINENTIA PIGMENTI
Alternate names
INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome, bloch-sulzberger syndrome
Description
Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).
Most common symptoms of INCONTINENTIA PIGMENTI
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
More info about INCONTINENTIA PIGMENTI
SOURCES: ORPHANET
NEVUS OF ITO
Alternate names
NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type, nevus fuscocaeruleus acromiodeltoideus, ip2, formerly, bloch-sulzberger syndrome, incontinentia pigmenti, type ii, formerly
Description
Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.
Most common symptoms of NEVUS OF ITO
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Neoplasm
More info about NEVUS OF ITO
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
Alternate names
IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated, immunodeficiency, pure
Most common symptoms of IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
- Anemia
- Immunodeficiency
- Pneumonia
- Hemolytic anemia
- Sepsis
More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY
Alternate names
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Is also known as hed-id, anhidrotic ectodermal dysplasia with immunodeficiency, eda-id
Description
Hypohidrotic ectodermal dysplasia with immunodeficiency (HED-ID) is a type of HED (see this term) characterized by the malformation of ectodermal structures such as skin, hair, teeth and sweat glands, and associated with immunodeficiency.
Most common symptoms of HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY
- Failure to thrive
- Diarrhea
- Immunodeficiency
- Recurrent infections
- Pneumonia
More info about HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY
X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY
Alternate names
X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1, x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency, immunodeficiency 33, mycobacteriosis, x-linked, amcbx1, x-linked msmd due to ikbkg deficiency, x-linked msmd due to nemo deficie
Description
IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).
Most common symptoms of X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY
- Immunodeficiency
- Recurrent infections
- Delayed eruption of teeth
- Ectodermal dysplasia
- Lymphedema
More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
Most common symptoms of INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
- Fever
- Frontal bossing
- Hyperhidrosis
- Arthritis
- Dry skin
More info about INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2; IPD2
ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME
Alternate names
ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id
Description
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Most common symptoms of ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME
- Fever
- Immunodeficiency
- Recurrent infections
- Ectodermal dysplasia
- Lymphedema
More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME
Search interest in IKBKG
Potential gene panels for IKBKG gene
Incontinentia Pigmenti Common Deletion Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IKBKG gene.
More info about this panel United States.
Incontinentia Pigmenti Common Deletion Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the IKBKG gene.
More info about this panel United States.
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the IKBKG gene.
More info about this panel Canada.
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID): IKBKG (NEMO) (Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the IKBKG gene.
More info about this panel Canada.
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG VAV1 AICDA BLNK CD19 CD79A
More info about this panel United States.
IKBKG (NEMO) Gene Sequencing (HED) Panel
United States.
By GeneDx
This panel specifically test the IKBKG gene.
More info about this panel United States.
IKBKG (NEMO) Gene Sequencing (IP) Panel
United States.
By GeneDx
This panel specifically test the IKBKG gene.
More info about this panel United States.
IKBKG. Chromosome X inactivation analysis Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IKBKG gene.
More info about this panel Spain.
IKBKG. Detection of the exon 4-10 deletion Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IKBKG gene.
More info about this panel Spain.
IKBKG. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Severe combined immunodeficiency Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Seq + Del/Dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Humoral dysfunction Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Humoral dysfunction Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Severe combined immunodeficency Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficency Seq Analysis that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Humoral dysfunction Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA
More info about this panel United States.
Severe combined immunodeficiency Del/dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Severe combined immunodeficiency Del/dup Panel that also includes the following genes: TBX1 WAS FOXN1 DCLRE1C ADA DOCK8 CHD7 NHEJ1 IKBKG IL2RG
More info about this panel United States.
Incontinentia pigmenti (IP) i Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the IKBKG gene.
More info about this panel India.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
X-Linked Mental Retardation Panel
Germany.
By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3
More info about this panel Germany.
NEMO Panel
United States.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the IKBKG gene.
More info about this panel United States.
Incontinentia pigmenti, type II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKG gene.
More info about this panel Germany.
Immunodeficiency, isolated Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKG gene.
More info about this panel Germany.
Invasive pneumococcal disease, recurrent isolated, 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKG gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Ectodermal dysplasia, hypohidrotic, with immune deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKG gene.
More info about this panel Germany.
Atypical mycobacteriosis, familial Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IKBKG gene.
More info about this panel Germany.
Incontinentia pigmenti, IKBKG sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the IKBKG gene.
More info about this panel United States.
Primary lymphedema and Hydrops fetalis Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2
More info about this panel Belgium.
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IKBKG gene.
More info about this panel Austria.
Ectodermal dysplasia, hypohidrotic, with immune deficiency Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IKBKG gene.
More info about this panel Austria.
Incontinentia pigmenti Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IKBKG gene.
More info about this panel Austria.
Immunodeficiency, isolated Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IKBKG gene.
More info about this panel Austria.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency Panel
Slovakia.
By MedGene
This panel specifically test the IKBKG gene.
More info about this panel Slovakia.
Ectodermal dysplasia, hypohidrotic, with immune deficiency Panel
Slovakia.
By MedGene
This panel specifically test the IKBKG gene.
More info about this panel Slovakia.
Immunodeficiency, isolated Panel
Slovakia.
By MedGene
This panel specifically test the IKBKG gene.
More info about this panel Slovakia.
Incontinentia pigmenti Panel
Slovakia.
By MedGene
This panel specifically test the IKBKG gene.
More info about this panel Slovakia.
Incontinentia pigmenti: IKBKG (NEMO) gene, exons 4 through 10 deletion analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Ectodermal dysplasia, hypohidrotic, with immune deficiency: IKBKG gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Ectodermal dysplasia Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Ectodermal dysplasia that also includes the following genes: TRAF6 WNT10A EDARADD TP63 CDH3 EDA2R EDAR EDA GJB6 IKBKG
More info about this panel Spain.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Incontinentia pigmenti Panel
Spain.
By Bioarray
This panel specifically test the IKBKG gene.
More info about this panel Spain.
HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY that also includes the following genes: IKBKG NFKBIA
More info about this panel Spain.
INCONTINENTIA PIGMENTI Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Incontinentia Pigmenti , Sequencing IKBKG (NEMO) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency , Sequencing IKBKG Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Incontinentia Pigmenti , Deletion Exons (4-10) IKBKG (NEMO) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Incontinentia Pigmenti , Deletions-Duplications (MLPA) IKBKG (NEMO) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IKBKG gene.
More info about this panel Spain.
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
Spain.
By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA
More info about this panel Spain.
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
Spain.
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panel Spain.
Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Ectodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: WNT10A EDARADD TP63 CDH3 EDAR EDA GJB6 IKBKG NFKBIA
More info about this panel Spain.
Incontinentia Pigmenti: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the IKBKG gene.
More info about this panel Canada.
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