congenital thrombotic thrombocytopenic purpura
Findings
No curated finding names congenital thrombotic thrombocytopenic purpura yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.
Definition from the Mondo Disease Ontology (MONDO:0010122), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- JaundiceHPOHP:0000952
- 59 of 120 reported patients
- StrokeHPOHP:0001297
- 25 of 120 reported patients
- Transient ischemic attackHPOHP:0002326
- 12 of 120 reported patients
- Myocardial infarctionHPOHP:0001658
- 5 of 120 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADAMTS13HGNC:1366
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: congenital thrombotic thrombocytopenic purpura
- Also called
- congenital ADAMTS-13 deficiencycongenital ADAMTS13 deficiencycongenital TTPfamilial TTPhereditary thrombotic thrombocytopenic purpurathrombotic thrombocytopenic purpura, hereditaryUpshaw-Schulman syndrome