hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Findings
No curated finding names hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary thrombocytopenia and hematologic cancer predisposition syndrome caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.
Definition from the Mondo Disease Ontology (MONDO:0100083), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Abnormal dense granule contentHPOHP:0012529
- 14 of 14 reported patients
- Acute monocytic leukemiaHPOHP:0004845
- 1 of 1 reported patient
- EcchymosisHPOHP:0031364
- 1 of 1 reported patient
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 1 of 1 reported patient
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- 1 of 1 reported patient
- Impaired collagen-induced platelet aggregation
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.
- RUNX1HGNC:10471
- Definitive · Ambry Genetics · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
14 names
Resolves to: hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
- Also called
- asprin-like platelet disorderFamilial Platelet Disorder with Associated Myeloid Malignancyfamilial platelet syndrome with predisposition to acute myelogenous leukaemiafamilial platelet syndrome with predisposition to acute myelogenous leukemiafamilial thrombocytopenia with propensity to acute myelogenous leukaemiafamilial thrombocytopenia with propensity to acute myelogenous leukemiaFPD/AML syndromeFPDMMFPS/AML syndromeplatelet disorder, aspirin-likeplatelet disorder, familial, with associated myeloid malignancyRUNX1-related hereditary thrombocytopenia and hematological cancer predisposition syndromethrombocytopenia, familial, with propensity to acute myelogenous leukaemia