ETV6-Related Predisposition to Leukemia and Thrombocytopenia

Preferred Label : ETV6-Related Predisposition to Leukemia and Thrombocytopenia;

NCIt related terms : ETV6-Related Thrombocytopenia and Leukemia Predisposition;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the ETV6 gene, encoding transcription factor ETV6. It is characterized by an increased risk of developing thrombocytopenia and diverse hematologic malignancies, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma.;

NCI Metathesaurus CUI : CL1647852;

Details

Origin ID

C178386;

UMLS CUI

C5554998;

Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
related_to_genetic_biomarker
- ETV6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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