ADAMTS13 gene related symptoms and diseases

All the information presented here about the ADAMTS13 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 ADAMTS13 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Acute kidney injury Very Common - Between 80% and 100% cases
Abnormal bleeding Very Common - Between 80% and 100% cases
Increased serum lactate Very Common - Between 80% and 100% cases
Hemiparesis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADAMTS13 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperbilirubinemia
  • Purpura
  • Glomerulonephritis
  • Personality changes
  • Hyperkalemia
  • Prolonged neonatal jaundice
  • Autoimmune thrombocytopenia
  • Hematuria

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADAMTS13 gene

Here you will find a list of rare diseases related to the ADAMTS13. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Alternate names

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp, microangiopathic hemolytic anemia, thrombotic microangiopathy, familial, microangiopathic hemolytic anemia, congenital, congenital adamts-13 deficiency, upshaw factor, deficiency of, uss, thrombotic thrombocytopenic purpura, familial, familial ttp

Description

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

Most common symptoms of CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

SOURCES: OMIM ORPHANET


Potential gene panels for ADAMTS13 gene

Genetic Renal Panel Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics Genetic Renal Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

ADAMTS13 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 ADAMTS13 gene.

More info about this panel

ADAMTS13 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 ADAMTS13 gene.

More info about this panel

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

More info about this panel

Thrombocytopenia Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Deletion/Duplication Panel that also includes the following genes: CFB RUNX1 SRC TERC TERT THBD VWF WAS C3 ADAMTS13

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

ADAMTS13. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombotic thrombocytopenic purpura (sequence analysis of ADAMTS13 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Atypical hemolytic uremic syndrome (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Atypical hemolytic uremic syndrome (NGS panel for 14 genes) that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 MMACHC CFHR5 DGKE CFH

More info about this panel

Congenital thrombotic thrombocytopenic purpura (deletions/duplications analysis of ADAMTS13 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Congenital thrombotic thrombocytopenic purpura (deletions/duplications analysis of ADAMTS13 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

ADAMTS13 Sequence Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the ADAMTS13 gene.

More info about this panel

Upshaw-Schulman syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ADAMTS13 gene.

More info about this panel

AHUS/MPGN panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders AHUS/MPGN panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Atypical Hemolytic-Uremic Syndrome Panel Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Atypical Hemolytic-Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CLU CFHR5 CFH CFHR1

More info about this panel

Test for Familial Thrombotic Thrombocytopenia Purpura Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombotic thrombocytopenic purpura: ADAMTS 13 gene sequence analysis Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel

Thrombotic Thrombocytopenic Purpura (TTP) via ADAMTS13 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombocytopenia Sequencing Panel with CNV Detection - Expanded Panel

United States.

By PreventionGenetics PreventionGenetics Thrombocytopenia Sequencing Panel with CNV Detection - Expanded that also includes the following genes: RUNX1 WAS ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1 CD36 MASTL CYCS

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 MMACHC CFHR5 DGKE CFH CFHR1

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Thrombocytopenia Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST

More info about this panel

Atypical hemolytic uremic syndrome Panel

United Kingdom.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust Atypical hemolytic uremic syndrome that also includes the following genes: CFB THBD C3 C5 ADAMTS13 INF2 MMACHC DGKE CFH CFI

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Thrombotic thrombocytopenic purpura Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen

This panel specifically test the ADAMTS13 gene.

More info about this panel

Familial Thrombotic Thrombocytopenia Purpura Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Atypical hemolytic uremic syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Atypical hemolytic uremic syndrome panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

Thrombocytopenia panel Panel

Germany.

By Centogene AG - the Rare Disease Company Thrombocytopenia panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 ITGA2B ITGB3

More info about this panel

Hemolytic uremic syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAMTS13 gene.

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

Thrombotic thrombocytopenic purpura Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ADAMTS13 gene.

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Germany.

By CeGaT GmbH Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

Platelets, Coagulation disorders Panel Panel

Germany.

By CeGaT GmbH Platelets, Coagulation disorders Panel that also includes the following genes: VHL VWF ADAMTS13 TET2 DSG1 ENTPD1 ETV6 F10 F11 F12

More info about this panel

Thrombocytopenia Panel Panel

Germany.

By CeGaT GmbH Thrombocytopenia Panel that also includes the following genes: THBD ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 AP3B1 ITGA2B ITGB3

More info about this panel

Thrombocytopenia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Thrombocytopenia that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Test for Familial Thrombotic Thrombocytopenia Purpura Panel

Spain.

By Secugen SL

This panel specifically test the ADAMTS13 gene.

More info about this panel

Test for ADAMTS13-Related Atypical Hemolytic Uremic Syndrome Panel

Spain.

By Secugen SL

This panel specifically test the ADAMTS13 gene.

More info about this panel

aHUS/DDD Genetic Evaluation Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aHUS/DDD Genetic Evaluation that also includes the following genes: CFB THBD C3 C4BPA C4BPB ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE

More info about this panel

ADAMTS13 Sequence Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the ADAMTS13 gene.

More info about this panel

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel

Thrombotic thrombocytopenic purpura: ADAMTS 13 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 WAS ADAMTS13 MASTL GATA1 GP1BA GP1BB GP9 MPL MYH9

More info about this panel

ADAMTS13 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombocytopenia Panel Panel

Finland.

By Blueprint Genetics Thrombocytopenia Panel that also includes the following genes: RUNX1 SRC THBD WAS WIPF1 ADAMTS13 ABCG5 ABCG8 TUBB1 ACTN1

More info about this panel

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Hemolytic Uremic Syndrome Panel Panel

Finland.

By Blueprint Genetics Hemolytic Uremic Syndrome Panel that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR5 DGKE CFH CFI CD46

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency Panel

Spain.

By Bioarray

This panel specifically test the ADAMTS13 gene.

More info about this panel

aHUS/TMA/C3 Glomerulopathy Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis aHUS/TMA/C3 Glomerulopathy Gene Set that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR4 CFHR3 CFHR5 DGKE CFH CFHR1

More info about this panel

THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ADAMTS13 gene.

More info about this panel

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ADAMTS13 gene.

More info about this panel

Thrombotic Thrombocytopenic Purpura , Sequencing ADAMTS13 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ADAMTS13 gene.

More info about this panel

Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes Panel

Spain.

By Reference Laboratory Genetics Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes that also includes the following genes: VWF ADAMTS13 MCFD2 F10 F11 F12 F13A1 F2 F5 F7

More info about this panel

Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

Spain.

By Reference Laboratory Genetics Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes that also includes the following genes: RUNX1 SRC WAS ADAMTS13 CYCS ANKRD26 GATA1 GP1BA GP1BB GP9

More info about this panel

Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: CFB THBD C3 ADAMTS13 CFHR3 CFHR5 DGKE CFH CFHR1 CFI

More info about this panel


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