NFKBIA gene related symptoms and diseases
All the information presented here about the NFKBIA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NFKBIA gene
Symptoms // Phenotype | % Cases |
---|---|
Failure to thrive | Uncommon - Between 30% and 50% cases |
Immunodeficiency | Uncommon - Between 30% and 50% cases |
Recurrent infections | Uncommon - Between 30% and 50% cases |
Pneumonia | Uncommon - Between 30% and 50% cases |
Ectodermal dysplasia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NFKBIA gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Bronchiectasis
- Diarrhea
- Anhidrotic ectodermal dysplasia
Rarely - Less than 30% cases
- Concave nasal ridge
- Anhidrosis
- Leukocytosis
- Agammaglobulinemia
- Heat intolerance
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NFKBIA gene
Here you will find a list of rare diseases related to the NFKBIA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLIOSARCOMA
GIANT CELL GLIOBLASTOMA
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
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
Description
Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).
Most common symptoms of ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
- Growth delay
- Failure to thrive
- Delayed speech and language development
- Frontal bossing
- Diarrhea
More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
NASOPHARYNGEAL CARCINOMA
Alternate names
NASOPHARYNGEAL CARCINOMA Is also known as npca, squamous cell carcinoma of the nasopharynx, npc, nasopharyngeal cancer
Description
Nasopharyngeal carcinoma (NPC) is a tumor arising from the epithelial cells that cover the surface and line the nasopharynx.
Most common symptoms of NASOPHARYNGEAL CARCINOMA
- Neoplasm
- Carcinoma
- Neoplasia of the nasopharynx
More info about NASOPHARYNGEAL CARCINOMA
Search interest in NFKBIA
Potential gene panels for NFKBIA gene
NFKBIA Sequencing Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NFKBIA gene.
More info about this panelNFKBIA Deletion/duplication analysis Panel
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NFKBIA gene.
More info about this panelPrimary Antibody Deficiency Panel, Sequencing and Deletion/Duplication Panel
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 panelHypohidrotic ectodermal dysplasia with immunodeficiency (sequence analysis of NFKBIA gene) Panel
By CGC Genetics
This panel specifically test the NFKBIA gene.
More info about this panelHyper IgM Syndrome Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hyper IgM Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK CD40 CD40LG UNG AICDA MRE11 NBN NFKBIA ATM
More info about this panelIKBa Gene Panel
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the NFKBIA gene.
More info about this panelEctodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panelDefects in innate immunity Panel Panel
By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4
More info about this panelEctodermal dysplasia, anhidrotic, with T-cell immunodeficiency Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the NFKBIA gene.
More info about this panelqGenEx Craniofacial Anomalies Panel
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 panelEctodermal dysplasia, anhidrotic, with T-cell immunodeficiency Panel
By MedGene
This panel specifically test the NFKBIA gene.
More info about this panelInvitae Ectodermal Dysplasia with or without Tooth Agenesis Panel Panel
By Invitae Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 NFKBIA PAX9
More info about this panelInvitae Monogenic Autoimmunity Panel Panel
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panelInvitae Primary Immunodeficiency Panel Panel
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panelInvitae Syndromic Combined Immunodeficiency (CID) Panel Panel
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panelEctodermal dysplasia Panel
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 panelNFKBIA Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NFKBIA gene.
More info about this panelPrimary Immunodeficiency Panel Panel
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelHYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY Panel
By Laboratorio de Genetica Clinica SL HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY that also includes the following genes: IKBKG NFKBIA
More info about this panelCommon Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel
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 panelEctodermal Dysplasia , Panel Massive Sequencing (NGS) 9 Genes Panel
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 panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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