Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

rare

The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.

Identifiers: MONDO:0011071 Orphanet:71290
Part of: Hereditary neoplastic syndrome Inherited blood coagulation disorder
Also known as: familial platelet syndrome with predisposition to acute myelogenous leukaemia · familial thrombocytopenia with propensity to acute myelogenous leukaemia · thrombocytopenia, familial, with propensity to acute myelogenous leukaemia

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	MONDO:0100083		RUNX1
Thrombocytopenia 5	MONDO:0014536		ETV6

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