Thrombotic Thrombocytopenic Purpura, Congenital; Ttp

Description

The classic pentad of TTP includes hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and nonfocal neurologic findings, decreased renal function, and fever. Congenital TTP, also known as Schulman-Upshaw syndrome, is characterized by neonatal onset, response to fresh plasma infusion, and frequent relapses (Savasan et al., 2003; Kokame et al., 2002).Acquired TTP, which is usually sporadic, usually occurs in adults and is caused by an IgG inhibitor against the von Willebrand factor-cleaving protease.

Clinical Features

Top most frequent phenotypes and symptoms related to Thrombotic Thrombocytopenic Purpura, Congenital; Ttp

  • Milia
  • Anemia
  • Hypertension
  • Fever
  • Tremor
  • Renal insufficiency
  • Diarrhea
  • Respiratory distress
  • Thrombocytopenia
  • Proteinuria
And another 24 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Thrombotic Thrombocytopenic Purpura, Congenital; Ttp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
ADAMTS13 Sequencing.

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

ADAMTS13
Specificity
100 %
Genes
100 %
ADAMTS13 Deletion/duplication analysis.

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

ADAMTS13
Specificity
100 %
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 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

WT1, ALMS1, LMX1B, PAX2, GLA, TSC2, TSC1, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, MYH9, CFB, CFI , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
ADAMTS13. Complete sequencing.

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

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombotic thrombocytopenic purpura (sequence analysis of ADAMTS13 gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

ADAMTS13
Specificity
100 %
Genes
100 %
Congenital thrombotic thrombocytopenic purpura (deletions/duplications analysis of ADAMTS13 gene).

By CGC Genetics in Portugal.

ADAMTS13
Specificity
100 %
Genes
100 %
ADAMTS13 Sequence Analysis.

By Translational Metabolic Laboratory Radboud University Medical Centre in Netherlands.

ADAMTS13
Specificity
100 %
Genes
100 %
Upshaw-Schulman syndrome.

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

ADAMTS13
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 %
Test for Familial Thrombotic Thrombocytopenia Purpura.

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

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombotic thrombocytopenic purpura: ADAMTS 13 gene sequence analysis.

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

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

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

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Thrombotic Thrombocytopenic Purpura (TTP) via the ADAMTS13 Gene.

By PreventionGenetics PreventionGenetics in United States.

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics in United States.

RUNX1, CYCS, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, ADAMTS13, ABCG5, ABCG8, GP1BA, NBEAL2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, ETV6 , (...)

View the complete list with 9 more genes
Specificity
4 %
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 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia Deletion / Duplication Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia Comprehensive Panel.

By Connective Tissue Gene Tests in United States.

RUNX1, SMPD1, CYCS, AP3B1, ANKRD26, GBA, MPL, WAS, MYH9, GATA1, LYST, ADAMTS13, TBXAS1, NBEAL2, HOXA11, ITGB3, ITGA2B, MASTL, ETV6, RBM8A , (...)

View the complete list with 8 more genes
Specificity
4 %
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 %
Familial Thrombotic Thrombocytopenia Purpura.

By Bioscientia GmbH Center for Human Genetics in Germany.

ADAMTS13
Specificity
100 %
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 %
Thrombocytopenia panel.

By Centogene AG - the Rare Disease Company in Germany.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, MASTL, GP1BB, GP9
Specificity
9 %
Genes
100 %
Hemolytic uremic syndrome.

By Centogene AG - the Rare Disease Company in Germany.

ADAMTS13
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Thrombotic thrombocytopenic purpura.

By Centogene AG - the Rare Disease Company in Germany.

ADAMTS13
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 %
Platelets, Coagulation disorders Panel.

By CeGaT GmbH in Germany.

F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1
Specificity
6 %
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 %
Thrombocytopenia.

By Asper Biogene Asper Biogene LLC in Estonia.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGA2B, MASTL, GP1BB, GP9
Specificity
8 %
Genes
100 %
Test for Familial Thrombotic Thrombocytopenia Purpura.

By Secugen SL in Spain.

ADAMTS13
Specificity
100 %
Genes
100 %
Test for ADAMTS13-Related Atypical Hemolytic Uremic Syndrome.

By Secugen SL in Spain.

ADAMTS13
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 %
ADAMTS13 Sequence Analysis.

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

ADAMTS13
Specificity
100 %
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 %
Thrombotic thrombocytopenic purpura: ADAMTS 13 gene sequence analysis.

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

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RUNX1, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, MASTL, GP1BB, GP9
Specificity
10 %
Genes
100 %
ADAMTS13.

By Fulgent Genetics Fulgent Genetics in United States.

ADAMTS13
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 %
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 %
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 %
Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency.

By Bioarray in Spain.

ADAMTS13
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 %
THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL.

By Laboratorio de Genetica Clinica SL in Spain.

ADAMTS13
Specificity
100 %
Genes
100 %
CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA.

By Laboratorio de Genetica Clinica SL in Spain.

ADAMTS13
Specificity
100 %
Genes
100 %
Thrombotic Thrombocytopenic Purpura , Sequencing ADAMTS13 Gene.

By Reference Laboratory Genetics in Spain.

ADAMTS13
Specificity
100 %
Genes
100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes.

By Reference Laboratory Genetics in Spain.

F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

RUNX1, CYCS, ANKRD26, MPL, WAS, MYH9, GATA1, ADAMTS13, GP1BA, ITGB3, ITGA2B, JAK2, GP1BB, SRC, GP9
Specificity
7 %
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

Thrombotic Thrombocytopenic Purpura, Congenital; Ttp Is also known as microangiopathic hemolytic anemia, thrombotic microangiopathy, familial, upshaw-schulman syndrome;uss, schulman-upshaw syndrome, upshaw factor, deficiency of, microangiopathic hemolytic anemia, congenital, thrombotic thrombocytopenic purpura, familial;congenital adamts-13 deficiency; congenital ttp; familial ttp; upshaw-schulman syndrome.



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