Thrombotic thrombocytopenic purpura: genes and variants
Thrombotic thrombocytopenic purpura is linked to 2 analyzed proteins (ADAMTS13 and VWF). 6 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: congenital thrombotic thrombocytopenic purpura
Genes linked to Thrombotic thrombocytopenic purpura
ADAMTS13: A disintegrin and metalloproteinase with thrombospondin motifs 13
It cleaves ultra-large von Willebrand factor multimers in the circulation, preventing excessive platelet adhesion in small vessels. Severe inherited deficiency or inhibitory autoantibodies cause thrombotic thrombocytopenic purpura, characterized by microvascular thrombosis, thrombocytopenia, and hemolytic anemia.
6 disease-causing and 0 uncertain variants in ADAMTS13 are linked to Thrombotic thrombocytopenic purpura.
VWF: von Willebrand factor
It tethers platelets to damaged vessel walls and carries factor VIII in the circulation, linking primary hemostasis with coagulation. Quantitative or qualitative pathogenic variants cause von Willebrand disease, the most common inherited bleeding disorder.
0 disease-causing and 0 uncertain variants in VWF are linked to Thrombotic thrombocytopenic purpura.
Known disease-causing variants in Thrombotic thrombocytopenic purpura
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ADAMTS13 A596V | 596 | Spacer | Disease-causing (★★★★) |
| ADAMTS13 R1060W | 1060 | TSP type-1 7 | Disease-causing (★★★★) |
| ADAMTS13 T196I | 196 | Peptidase M12B | Disease-causing (★★) |
| ADAMTS13 C1024G | 1024 | TSP type-1 7 | Disease-causing (★★) |
| ADAMTS13 I1217T | 1217 | CUB 1 | Disease-causing (★★) |
| ADAMTS13 C737R | 737 | Disease-causing |
Same protein, different disease
- Upshaw-Schulman syndrome is also caused by ADAMTS13 variants; they fall mostly in different places as the Thrombotic thrombocytopenic purpura variants (32 disease-causing).
Diseases related to Thrombotic thrombocytopenic purpura
- Hypertrophic cardiomyopathy, also linked to VWF
- Noonan syndrome, also linked to VWF
- Von Willebrand disease, also linked to VWF
- Upshaw-Schulman syndrome, also linked to ADAMTS13
- Hereditary von Willebrand disease, also linked to VWF
- Von Willebrand disorder, also linked to VWF
Frequently asked questions
Which genes are linked to Thrombotic thrombocytopenic purpura?
In CATVariant, Thrombotic thrombocytopenic purpura is linked to 2 analyzed proteins: ADAMTS13 (A disintegrin and metalloproteinase with thrombospondin motifs 13) and VWF (von Willebrand factor).
How many genetic variants are linked to Thrombotic thrombocytopenic purpura?
90 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Thrombotic thrombocytopenic purpura look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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