Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

MedGen UID:: 965797
•Concept ID:: CN281654
•: Disease or Syndrome

Synonyms:	Familial platelet disorder with associated myeloid malignancy; Familial platelet disorder with predisposition to acute myelogenous leukemia; Familial platelet disorder with predisposition to myeloid malignancy; Familial platelet disorder with propensity to acute myeloid leukemia; familial platelet syndrome with predisposition to acute myelogenous leukaemia; familial thrombocytopenia with propensity to acute myelogenous leukaemia; Familial thrombocytopenia with propensity to acute myelogenous leukemia; FPD/AML; FPDMM; FPS/AML; hereditary thrombocytopenia and hematologic cancer predisposition syndrome; thrombocytopenia, familial, with propensity to acute myelogenous leukaemia
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0011071
Orphanet:	ORPHA71290

Definition

A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary thrombocytopenia and hematologic cancer predisposition syndrome

Dense granule disease
- Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Recent clinical studies

Etiology

Hereditary Predisposition to Hematopoietic Neoplasms: When Bloodline Matters for Blood Cancers.

Mangaonkar AA, Patnaik MM
Mayo Clin Proc 2020 Jul;95(7):1482-1498. Epub 2020 Jun 19 doi: 10.1016/j.mayocp.2019.12.013. PMID: 32571604

Thrombopoietin receptor agonists in hereditary thrombocytopenias.

Rodeghiero F, Pecci A, Balduini CL
J Thromb Haemost 2018 Sep;16(9):1700-1710. Epub 2018 Jul 27 doi: 10.1111/jth.14217. PMID: 29956472

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

Zhang MY, Churpek JE, Keel SB, Walsh T, Lee MK, Loeb KR, Gulsuner S, Pritchard CC, Sanchez-Bonilla M, Delrow JJ, Basom RS, Forouhar M, Gyurkocza B, Schwartz BS, Neistadt B, Marquez R, Mariani CJ, Coats SA, Hofmann I, Lindsley RC, Williams DA, Abkowitz JL, Horwitz MS, King MC, Godley LA, Shimamura A
Nat Genet 2015 Feb;47(2):180-5. Epub 2015 Jan 12 doi: 10.1038/ng.3177. PMID: 25581430 Free PMC Article

See all (3)