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.
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
Search interest in ADAMTS13
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Portugal.
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 Portugal.
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 Portugal.
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 Portugal.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United Kingdom.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
Hemolytic uremic syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ADAMTS13 gene.
More info about this panel Germany.
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.
Thrombotic thrombocytopenic purpura Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the ADAMTS13 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
Test for Familial Thrombotic Thrombocytopenia Purpura Panel
Spain.
By Secugen SL
This panel specifically test the ADAMTS13 gene.
More info about this panel Spain.
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 Spain.
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 United States.
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 United States.
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 United States.
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 Spain.
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 United States.
ADAMTS13 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ADAMTS13 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
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 Spain.
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 United States.
THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ADAMTS13 gene.
More info about this panel Spain.
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ADAMTS13 gene.
More info about this panel Spain.
Thrombotic Thrombocytopenic Purpura , Sequencing ADAMTS13 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ADAMTS13 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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