Hematologic Neoplasm with Germline ANKRD26 Mutation

Preferred Label : Hematologic Neoplasm with Germline ANKRD26 Mutation;

NCIt synonyms : Myeloid Neoplasm with Germline ANKRD26 Mutation;

NCIt definition : An autosomal dominant disorder characterized by moderate thrombocytopenia and increased risk of developing myelodysplastic syndrome/acute myeloid leukemia. This disorder is characterized by germline mutations in ANKRD26, located on chromosome band 10p12.1. (WHO 2017);

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL553251;

Details

Origin ID

C151908;

UMLS CUI

C4726549;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_associated_disease
- Platelet Disorder [NCIt concept]
- Thrombocytopenia 2 [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Thrombocytopenia [NCIt concept]
disease_has_molecular_abnormality
- Germline ANKRD26 Gene Mutation [NCIt concept]
- Germline Variation [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ANKRD26 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- ANKRD26 Gene [NCIt concept]
- ANKRD26 wt Allele [NCIt concept]
related_to_genetic_biomarker
- ANKRD26 Gene [NCIt concept]

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