Thrombophilia Due To Thrombomodulin Defect; Thph12

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.

Clinical Features

Phenotypes and symptoms related to Thrombophilia Due To Thrombomodulin Defect; Thph12

  • Pulmonary embolism
  • Hypercoagulability
  • Deep venous thrombosis

Incidence and onset information

Not enough data available about incidence and published cases.


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Thrombophilia Due To Thrombomodulin Defect; Thph12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for THBD-Related Atypical Hemolytic-Uremic Syndrome.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

THBD
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Genome Diagnostics Laboratory The Hospital for Sick Children in Canada.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, APLN
Specificity
13 %
Genes
100 %
Genetic Renal Panel.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, PLG, ADAMTS13
Specificity
8 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE
Specificity
10 %
Genes
100 %
THBD Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

THBD
Specificity
100 %
Genes
100 %
THBD Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

THBD
Specificity
100 %
Genes
100 %
aHUS Genetic Susceptibility Deletion/duplication panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CFB, CFI, C3, THBD, DGKE
Specificity
20 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

RUNX1, CYCS, ANKRD26, GATA2, MPL, WAS, FLNA, MYH9, GATA1, TERC, TERT, VWF, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
THBD. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

THBD
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome, atypical with thrombomodulin defect (sequence analysis of THBD gene).

By CGC Genetics in Portugal.

THBD
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome (NGS panel for 14 genes).

By CGC Genetics in Portugal.

MMACHC, LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
8 %
Genes
100 %
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene).

By CGC Genetics in Portugal.

THBD
Specificity
100 %
Genes
100 %
Hemolytic uremic syndrome type 6 (deletions/duplications analysis of THBD gene).

By CGC Genetics in Portugal.

THBD
Specificity
100 %
Genes
100 %
Atypical hemolytic-uremic syndrome.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

THBD
Specificity
100 %
Genes
100 %
AHUS/MPGN panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Atypical Hemolytic-Uremic Syndrome Panel.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, ADAMTS13, CFHR4, CLU, CFHR2
Specificity
8 %
Genes
100 %
Thrombophilia due to thrombomodulin defect.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

THBD
Specificity
100 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome susceptibility and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR2
Specificity
8 %
Genes
100 %
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust in United Kingdom.

MMACHC, INF2, CFB, CFI, CFH, CD46, C3, THBD, DGKE, ADAMTS13, C5
Specificity
10 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Atypical hemolytic uremic syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
Hemolytic uremic syndrome.

By Centogene AG - the Rare Disease Company in Germany.

THBD
Specificity
100 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By CeGaT GmbH in Germany.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4
Specificity
9 %
Genes
100 %
Thrombocytopenia Panel.

By CeGaT GmbH in Germany.

AP3B1, MPL, MYH9, GATA1, THBD, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, RBM8A, GP9
Specificity
8 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
THBD-Related Atypical Hemolytic-Uremic Syndrome.

By Secugen SL in Spain.

THBD
Specificity
100 %
Genes
100 %
aHUS/DDD Genetic Evaluation.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

LMNA, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, C4BPA, C4BPB
Specificity
7 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Hemolytic-uremic, syndrome.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4, CFHR2
Specificity
10 %
Genes
100 %
THBD.

By Fulgent Genetics Fulgent Genetics in United States.

THBD
Specificity
100 %
Genes
100 %
Thrombocytopenia Panel.

By Blueprint Genetics in Finland.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, THBD, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Hemolytic Uremic Syndrome Panel.

By Blueprint Genetics in Finland.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, DGKE, ADAMTS13
Specificity
12 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics in Finland.

BRCA2, HFE, YARS2, PC, HBB, AMN, MTR, CLCN7, ALAS2, GPI, RPL35A, PUS1, PDHA1, ABCB7, TCN2, NT5C3A, CUBN, CYB5R3, SLC25A38, PDHX , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
100 %
hrombophilia due to thrombomodulin defect.

By Bioarray in Spain.

THBD
Specificity
100 %
Genes
100 %
aHUS/TMA/C3 Glomerulopathy Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFHR4, CFHR2
Specificity
8 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

CFB, CFI, CFH, CD46, THBD, DGKE
Specificity
17 %
Genes
100 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

MMACHC, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, C1S, CFHR1, CFHR3, DGKE, C2, C9, C8A
Specificity
7 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome, Sequencing THBD Gene.

By Reference Laboratory Genetics in Spain.

THBD
Specificity
100 %
Genes
100 %
Thrombophilia due to Thrombomodulin Defect , Sequencing THBD Gene.

By Reference Laboratory Genetics in Spain.

THBD
Specificity
100 %
Genes
100 %
Atypical Hemolytic Uremic Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, CFHR4
Specificity
10 %
Genes
100 %
Complement System (Genetic Study) , Panel Massive Sequencing (NGS) 12 Genes.

By Reference Laboratory Genetics in Spain.

CFB, CFI, CFH, CFHR5, CD46, C3, THBD, CFHR1, CFHR3, DGKE, ADAMTS13, CFP
Specificity
9 %
Genes
100 %

Alternate names

Thrombophilia Due To Thrombomodulin Defect; Thph12 Is also known as ;thbd-related bleeding disorder; thbd-related coagulopathy; thrombomodulin-related coagulopathy.



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