BTK gene related symptoms and diseases
All the information presented here about the BTK gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to BTK gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Common - Between 50% and 80% cases |
| Diarrhea | Common - Between 50% and 80% cases |
| Encephalitis | Common - Between 50% and 80% cases |
| Meningitis | Common - Between 50% and 80% cases |
| Decreased antibody level in blood | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with BTK gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pneumonia
- Pyoderma
- Septic arthritis
- Conjunctivitis
- Immunodeficiency
- Epididymitis
- Prostatitis
- Recurrent urinary tract infections
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to BTK gene
Here you will find a list of rare diseases related to the BTK. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED AGAMMAGLOBULINEMIA
Alternate names
X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1, bruton-type agammaglobulinemia, bruton type agammaglobulinemia, agammaglobulinemia, x-linked, type 1, immunodeficiency 1, btk-deficiency, agmx1
Description
X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.
Most common symptoms of X-LINKED AGAMMAGLOBULINEMIA
- Short stature
- Hearing impairment
- Ataxia
- Neoplasm
- Failure to thrive
More info about X-LINKED AGAMMAGLOBULINEMIA
SHORT STATURE DUE TO ISOLATED GROWTH HORMONE DEFICIENCY WITH X-LINKED HYPOGAMMAGLOBULINEMIA
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
Alternate names
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked, ighd iii, fleisher syndrome, agammaglobulinemia and isolated growth hormone deficiency, x-linked, growth hormone deficiency with hypogammaglobulinemia
Most common symptoms of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
- Short stature
- Hearing impairment
- Diarrhea
- Immunodeficiency
- Delayed skeletal maturation
More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3
Search interest in BTK
Potential gene panels for BTK gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
X-Linked Agammaglobulinemia Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
This panel specifically test the BTK gene.
More info about this panel United States.
X-linked Agammaglobulinemia (XLA): BTK (Full Gene Sequencing) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the BTK gene.
More info about this panel Canada.
X-linked Agammaglobulinemia (XLA): BTK (Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the BTK gene.
More info about this panel Canada.
BTK Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BTK gene.
More info about this panel United States.
BTK Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the BTK gene.
More info about this panel United States.
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.
BTK. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the BTK gene.
More info about this panel Spain.
BTK. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the BTK gene.
More info about this panel Spain.
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.
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.
Agammaglobulinemia, X-Linked (sequence analysis of BTK gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the BTK gene.
More info about this panel Portugal.
Bruton type X-linked Agammaglobulinemia (XLA) Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the BTK gene.
More info about this panel India.
Isolated growth hormone deficiency type 3 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the BTK gene.
More info about this panel Germany.
Agammaglobulinemia, X-linked 1 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the BTK gene.
More info about this panel Germany.
Isolated growth hormone deficiency type 3 Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the BTK gene.
More info about this panel Germany.
Agammaglobulinemia, X-linked Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the BTK gene.
More info about this panel Germany.
Hyper IgM Syndrome Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 TNFRSF1A CD27 CD70 WAS NLRP3
More info about this panel United States.
X-linked Agammaglobulinemia via BTK Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the BTK gene.
More info about this panel United States.
Agammaglobulinemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Agammaglobulinemia Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM PIK3R1
More info about this panel United States.
Short stature with endocrinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy NGS panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Deletion / Duplication panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
Short stature with endocrinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Short stature with endocrinopathy Comprehensive panel that also includes the following genes: SOX3 BTK LHX4 GH1 GHR GHRHR GHSR HESX1 IGF1 IGF1R
More info about this panel United States.
X-Linked Agammaglobulinemia Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the BTK gene.
More info about this panel Germany.
BTK Gene Panel
United States.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute
This panel specifically test the BTK gene.
More info about this panel United States.
XLA Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the BTK gene.
More info about this panel Netherlands.
B cell pathology panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht B cell pathology panel that also includes the following genes: BTK CD40 CD40LG UNG AICDA BLNK CD19 CD79A CD79B CD81
More info about this panel Netherlands.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Agammaglobulinemia panel Panel
Germany.
By Centogene AG - the Rare Disease Company Agammaglobulinemia panel that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Germany.
Antibody deficiencies Panel Panel
Germany.
By CeGaT GmbH Antibody deficiencies Panel that also includes the following genes: BTK TCF3 TCF4 CD40 TNFSF12 CD40LG UNG AICDA BLNK RTEL1
More info about this panel Germany.
Agammaglobulinemia, X-linked, BTK sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the BTK gene.
More info about this panel United States.
Agammaglobulinemia, X-linked Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the BTK gene.
More info about this panel Austria.
Growth Hormone deficiency, isolated Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the BTK gene.
More info about this panel Austria.
X-linked agammaglobulinemia Panel
Denmark.
By Department of Clinical Immunology Odense University Hospital
This panel specifically test the BTK gene.
More info about this panel Denmark.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Agammaglobulinemia, X-linked Panel
Slovakia.
By MedGene
This panel specifically test the BTK gene.
More info about this panel Slovakia.
Growth Hormone deficiency, isolated Panel
Slovakia.
By MedGene
This panel specifically test the BTK gene.
More info about this panel Slovakia.
Invitae Agammaglobulinemia Panel Panel
United States.
By Invitae Invitae Agammaglobulinemia Panel that also includes the following genes: BTK BLNK CD79A CD79B IGLL1 PIK3R1
More info about this panel United States.
Invitae Monogenic Autoimmunity Panel Panel
United States.
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 panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
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 panel United States.
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Panel
United States.
By Invitae Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel that also includes the following genes: SH2D1A SLC7A7 BTK STX11 STXBP2 CD27 WAS ADA LYST UNC13D
More info about this panel United States.
X-linked Agammaglobulinemia: Deletions-duplications analysis (MLPA) BTK gene Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BTK gene.
More info about this panel Spain.
X-linked Agammaglobulinemia: BTK gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the BTK gene.
More info about this panel Spain.
Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel that also includes the following genes: ROR2 RPS6KA3 BLM SHOX SHOX2 SMARCAL1 SMC1A SOS1 SOX2 SOX3
More info about this panel United States.
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
BTK Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BTK gene.
More info about this panel United States.
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.
Primary Immunodeficiency Panel Panel
Finland.
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 panel Finland.
Focus::MCL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MCL™ NGS Panel that also includes the following genes: SALL3 SI SMARCA4 BTK TLR2 TP53 TRAF2 NSD2 XPO1 KMT2C
More info about this panel United States.
Focus::CLL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::CLL™ NGS Panel that also includes the following genes: SF3B1 BRAF BTK MED12 TP53 TRAF2 XPO1 ZMYM3 IKZF3 CARD11
More info about this panel United States.
Focus::DLBCL&FL™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panel United States.
Focus::Lymphoma™ NGS Panel Panel
United States.
By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS
More info about this panel United States.
AGAMMAGLOBULINEMIA, X-LINKED; XLA Panel
Spain.
By Bioarray
This panel specifically test the BTK gene.
More info about this panel Spain.
Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Isolated Growth Hormone Deficiency NGS and Deletion/Duplication Panel that also includes the following genes: BTK LHX4 GH1 GHRHR GHSR HESX1 LHX3 OTX2 POU1F1 PROP1
More info about this panel United States.
BTK Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the BTK gene.
More info about this panel United States.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
FoundationOne® Heme Panel
United States.
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 panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
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 panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
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 panel United States.
OmniSeq Comprehensive Panel
United States.
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
More info about this panel United States.
AGAMMAGLOBULINEMIA (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the BTK gene.
More info about this panel Spain.
SYSTEMIC PRIMARY CARNITINE DEFICIENCY Panel
Spain.
By Laboratorio de Genetica Clinica SL SYSTEMIC PRIMARY CARNITINE DEFICIENCY that also includes the following genes: SLC22A5 BTK
More info about this panel Spain.
Agammaglobulinemia NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL Agammaglobulinemia NGS PANEL that also includes the following genes: BTK TCF3 BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Spain.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panel United States.
X-Linked Agammaglobulinemia, Sequencing BTK Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BTK gene.
More info about this panel Spain.
X-Linked Agammaglobulinemia, Deletions-Duplications (MLPA) BTK Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the BTK 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.
Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Agammaglobulinemies, Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: SH2D1A BTK BLNK CD79A CD79B LRRC8A IGHM IGLL1 PIK3R1
More info about this panel Spain.
X-linked agammaglobulinemia Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the BTK gene.
More info about this panel Germany.
Tempus xT assay Panel
United States.
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 panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
Agammaglobulinemia: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the BTK gene.
More info about this panel Canada.
Agammaglobulinemia: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the BTK gene.
More info about this panel Canada.
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