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.

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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

SOURCES: ORPHANET OMIM

SHORT STATURE DUE TO ISOLATED GROWTH HORMONE DEFICIENCY WITH X-LINKED HYPOGAMMAGLOBULINEMIA



More info about SHORT STATURE DUE TO ISOLATED GROWTH HORMONE DEFICIENCY WITH X-LINKED HYPOGAMMAGLOBULINEMIA

SOURCES: ORPHANET

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

SOURCES: OMIM ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

X-Linked Agammaglobulinemia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the BTK gene.

More info about this panel

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

XLA Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the BTK gene.

More info about this panel

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

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

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

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

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

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

Agammaglobulinemia, X-linked Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the BTK gene.

More info about this panel

Growth Hormone deficiency, isolated Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the BTK gene.

More info about this panel

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

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

Agammaglobulinemia, X-linked Panel

Slovakia.

By MedGene

This panel specifically test the BTK gene.

More info about this panel

Growth Hormone deficiency, isolated Panel

Slovakia.

By MedGene

This panel specifically test the BTK gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

BTK Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BTK gene.

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

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

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

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

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

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

AGAMMAGLOBULINEMIA, X-LINKED; XLA Panel

Spain.

By Bioarray

This panel specifically test the BTK gene.

More info about this panel

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

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

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

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

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

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

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

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

AGAMMAGLOBULINEMIA (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the BTK gene.

More info about this panel

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

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

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

X-Linked Agammaglobulinemia, Sequencing BTK Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the BTK gene.

More info about this panel

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

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

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

X-linked agammaglobulinemia Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the BTK gene.

More info about this panel

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

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

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

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


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