Details of Disease

General Information of Disease (ID: DIS1HP20)

Disease Name Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Synonyms
thrombocytopenia, familial, with propensity to acute myelogenous leukaemia; familial thrombocytopenia with propensity to acute myelogenous leukaemia; familial platelet syndrome with predisposition to acute myelogenous leukaemia; hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Definition
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.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DIS1DL2M: Inherited blood coagulation disorder
DIS1HP20: Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RUNX1 TTWIN3H Definitive Autosomal dominant [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKRD26 OT2ENKKV Supportive Autosomal dominant [2]
ETV6 OTCZMG61 Supportive Autosomal dominant [3]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 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.
3 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.