THBD gene related symptoms and diseases
All the information presented here about the THBD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to THBD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Leukemia | Uncommon - Between 30% and 50% cases |
| Thrombocytopenia | Uncommon - Between 30% and 50% cases |
| Anuria | Uncommon - Between 30% and 50% cases |
| Increased blood urea nitrogen | Uncommon - Between 30% and 50% cases |
| Hemolytic-uremic syndrome | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with THBD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Elevated serum creatinine
- Acute kidney injury
- Hematuria
- Hemolytic anemia
- Proteinuria
- Renal insufficiency
- Acute promyelocytic leukemia
- Hypertension
And 9 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to THBD gene
Here you will find a list of rare diseases related to the THBD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE PROMYELOCYTIC LEUKEMIA
Alternate names
ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic
Description
Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.
Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA
- Leukemia
- Acute promyelocytic leukemia
- Abnormal granulocytopoietic cell morphology
More info about ACUTE PROMYELOCYTIC LEUKEMIA
THROMBOMODULIN-RELATED BLEEDING DISORDER
Alternate names
THROMBOMODULIN-RELATED BLEEDING DISORDER Is also known as thbd-related bleeding disorder, thrombomodulin-related coagulopathy, thbd-related coagulopathy
Description
The role of thrombomodulin in thrombosis is controversial. Although there have been several reports of THBD mutations in patients with venous thrombosis, clear functional evidence for the pathogenicity of these mutations is lacking. In a review, Anastasiou et al. (2012) noted that thrombomodulin has a major role in capillary beds and that THBD variation may not be associated with large vessel thrombosis. It is likely that genetic or environmental risk factors in addition to THBD variation are involved in the pathogenesis of venous thrombosis. However, variation in the THBD gene may be associated with increased risk for arterial thrombosis and myocardial infarction. This association may be attributed to the fact that thrombomodulin can modulate inflammatory processes, complement activity, and fibrinolysis.
Most common symptoms of THROMBOMODULIN-RELATED BLEEDING DISORDER
- Myocardial infarction
- Venous thrombosis
- Pulmonary embolism
- Deep venous thrombosis
- Hypercoagulability
More info about THROMBOMODULIN-RELATED BLEEDING DISORDER
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY
Alternate names
ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY Is also known as d-hus with thrombomodulin anomaly, ahus, susceptibility to, 6, atypical hus with thrombomodulin anomaly, ahus with thrombomodulin anomaly, hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly
Most common symptoms of ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY
- Anemia
- Hypertension
- Renal insufficiency
- Thrombocytopenia
- Proteinuria
More info about ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY
Search interest in THBD
Potential gene panels for THBD gene
Test for THBD-Related Atypical Hemolytic-Uremic Syndrome Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the THBD gene.
More info about this panel Netherlands.
AHUS/MPGN panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht AHUS/MPGN panel that also includes the following genes: CFB THBD C3 APLN CFHR5 CFH CFI CD46
More info about this panel Netherlands.
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.
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel that also includes the following genes: CFB THBD C3 CFHR3 CFHR5 DGKE CFH CFHR1 CFI CD46
More info about this panel United States.
THBD 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 THBD gene.
More info about this panel United States.
THBD 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 THBD gene.
More info about this panel United States.
aHUS Genetic Susceptibility Deletion/duplication panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center aHUS Genetic Susceptibility Deletion/duplication panel that also includes the following genes: CFB THBD C3 DGKE CFI
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.
THBD. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the THBD gene.
More info about this panel Spain.
Hemolytic uremic syndrome, atypical with thrombomodulin defect (sequence analysis of THBD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the THBD 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.
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the THBD gene.
More info about this panel Portugal.
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the THBD gene.
More info about this panel Portugal.
Atypical hemolytic-uremic syndrome Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the THBD 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.
Thrombophilia due to thrombomodulin defect Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the THBD gene.
More info about this panel Germany.
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.
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.
Atypical hemolytic-uremic syndrome Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Atypical hemolytic-uremic syndrome that also includes the following genes: CFB THBD C3 MMACHC DGKE CFH CFI CD46
More info about this panel Germany.
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.
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.
Hemolytic uremic syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the THBD 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.
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.
Complement deficiencies Panel Panel
Germany.
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panel Germany.
Combined immunodeficiencies Panel Panel
Germany.
By CeGaT GmbH Combined immunodeficiencies Panel that also includes the following genes: RMRP SEMA3E STAT5B STIM1 STK4 TAPBP TBX1 THBD TNFRSF4 CD40
More info about this panel Germany.
THBD-Related Atypical Hemolytic-Uremic Syndrome Panel
Spain.
By Secugen SL
This panel specifically test the THBD 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.
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.
Hemolytic-uremic, syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hemolytic-uremic, syndrome that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFHR2 CFI
More info about this panel Spain.
THBD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the THBD 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.
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.
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.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
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.
hrombophilia due to thrombomodulin defect Panel
Spain.
By Bioarray
This panel specifically test the THBD 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.
ATYPICAL HEMOLYTIC UREMIC SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME that also includes the following genes: CFB THBD C3 DGKE CFH CFI CD46
More info about this panel Spain.
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3
More info about this panel Spain.
Atypical Hemolytic Uremic Syndrome, Sequencing THBD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THBD gene.
More info about this panel Spain.
Thrombophilia due to Thrombomodulin Defect , Sequencing THBD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the THBD gene.
More info about this panel Spain.
Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: CFB THBD C3 CFHR4 CFHR3 CFHR5 CFH CFHR1 CFI CD46
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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