# hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome

> Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML

**Wikidata**: [Q55783136](https://www.wikidata.org/wiki/Q55783136)  
**Source**: https://4ort.xyz/entity/hereditary-thrombocytopenia-with-normal-platelets-hematological-cancer-predisposition-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/06aed341-58db-459b-a750-7142e29b420b--2018-06-04T19:46:55)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_06aed341-58db-459b-a750-7142e29b420b-2018-06-04T194655.831Z)
5. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy