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Hereditary Thrombocytopenia And Hematologic Cancer Predisposition Syndrome (MONDO:0011071)

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.

Overview

Category

syndromic disease

hematologic disorder

Ontology ID

MONDO:0011071

Internal:12197

Synonyms

hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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

Mapped terms

GARD:0010352

MESH:C563324

NCIT:C162696

Orphanet:71290

SCTID:725034002

Child terms

MONDO:0014536

MONDO:0100083

Results

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