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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM MESH

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

SOURCES: ORPHANET OMIM

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

SOURCES: MESH ORPHANET OMIM

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

SOURCES: OMIM MESH

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

SOURCES: MESH ORPHANET OMIM


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

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

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

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

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

IKBKG (NEMO) Gene Sequencing (HED) Panel

United States.

By GeneDx

This panel specifically test the IKBKG gene.

More info about this panel

IKBKG (NEMO) Gene Sequencing (IP) Panel

United States.

By GeneDx

This panel specifically test the IKBKG gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Immunodeficiency, isolated Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IKBKG gene.

More info about this panel

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

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

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

Atypical mycobacteriosis, familial Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the IKBKG gene.

More info about this panel

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

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

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

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

Incontinentia pigmenti Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the IKBKG gene.

More info about this panel

Immunodeficiency, isolated Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the IKBKG gene.

More info about this panel

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

Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency Panel

Slovakia.

By MedGene

This panel specifically test the IKBKG gene.

More info about this panel

Ectodermal dysplasia, hypohidrotic, with immune deficiency Panel

Slovakia.

By MedGene

This panel specifically test the IKBKG gene.

More info about this panel

Immunodeficiency, isolated Panel

Slovakia.

By MedGene

This panel specifically test the IKBKG gene.

More info about this panel

Incontinentia pigmenti Panel

Slovakia.

By MedGene

This panel specifically test the IKBKG gene.

More info about this panel

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

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

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

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

Incontinentia pigmenti Panel

Spain.

By Bioarray

This panel specifically test the IKBKG gene.

More info about this panel

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

INCONTINENTIA PIGMENTI Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the IKBKG gene.

More info about this panel

Incontinentia Pigmenti , Sequencing IKBKG (NEMO) Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the IKBKG gene.

More info about this panel

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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SLC12A2 FYCO1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more