Details of Disease

General Information of Disease (ID: DIS7XO1W)

• Disease Name: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
• Synonyms: platelet disorder, familial, with associated myeloid malignancy; thrombocytopenia, familial, with propensity to acute myelogenous leukaemia; platelet disorder, aspirin-like; familial thrombocytopenia with propensity to acute myelogenous leukemia; familial thrombocytopenia with propensity to acute myelogenous leukaemia; thrombocytopenia, familial, with propensity to acute myelogenous leukemia; asprin-like platelet disorder; FPDMM; Familial Platelet Disorder with Associated Myeloid Malignancy; FPD/AML syndrome; FPS/AML syndrome; familial platelet syndrome with predisposition to acute myelogenous leukaemia; hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; familial platelet disorder with associated myeloid malignancy; familial platelet syndrome with predisposition to acute myelogenous leukemia
• Definition: This is an autosomal dominant disorder 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.
• Disease Hierarchy:
  DIS1HP20: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  DIS7XO1W: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
• Disease Identifiers:
  MONDO ID: MONDO_0100083
  MESH ID: C563324
  UMLS CUI: C1832388
  OMIM ID: 601399
  MedGen ID: 321945
  SNOMED CT ID: 725034002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RUNX1	TTWIN3H	Definitive	Autosomal dominant	[1]
RUNX1	TTWIN3H	Definitive	CausalMutation	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKRD26	OT2ENKKV	Strong	GermlineCausalMutation	[3]
ETV6	OTCZMG61	Strong	GermlineCausalMutation	[4]
RUNX1	OTU7J84H	Definitive	Autosomal dominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [2] A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India.Leuk Lymphoma. 2019 Oct;60(10):2568-2571. doi: 10.1080/10428194.2019.1587756. Epub 2019 Apr 16.
• [3] A novel ANKRD26 gene variant causing inherited thrombocytopenia in a family of Finnish origin: Another brick in the wall?. Thromb Res. 2017 Mar;151:41-43. doi: 10.1016/j.thromres.2017.01.001. Epub 2017 Jan 10.
• [4] Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30.