Platelet disorder, familial, with associated myeloid malignancy

Preferred Label : Platelet disorder, familial, with associated myeloid malignancy;

Symbol : FPDMM;

CISMeF acronym : FPD/AML; FPDMM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Platelet disorder, aspirin-like; FPD/AML; Thrombocytopenia, familial, with propensity to acute myelogenous leukemia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the runt-related transcription factor 1 gene (RUNX1, 151385.0001);

Neoplasia : Acute monocytic leukemia; Myelodysplasia; Lymphosarcoma; Lymphocytic lymphoma; Acute myelocytic leukemia; Neuroblastoma;

Prefixed ID : #601399;

Details

Origin ID

601399;

UMLS CUI

C1832388;

Currated CISMeF NLP mapping
- Familial Platelet Disorder with Associated Myeloid Malignancy [NCIt concept]
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
- Familial platelet syndrome with predisposition to acute myelogenous leukaemia [ICD-11 More detail]
- Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) [SNOMED CT concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH Supplementary Concept]
Genes related to phenotype
- Runt-related transcription factor 1 [OMIM gene]
HPO term(s)
- Abnormal alpha granule content [HPO term]
- Abnormal dense granule content [HPO term]
- Acute monocytic leukemia [HPO term]
- Acute myeloid leukemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Impaired platelet aggregation [HPO term]
- Lymphoma [HPO term]
- Myelodysplasia [HPO term]
- Neuroblastoma [HPO term]
- Prolonged bleeding time [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormal platelet morphology [HPO term]
- Abnormal platelet shape [HPO term]
ORDO concept(s)
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Platelet Disorder with Associated Myeloid Malignancy [NCIt concept]
- Familial platelet disorder with associated myeloid malignancy [ORDO Disease]
- Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) [SNOMED CT concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH Supplementary Concept]
- platelet disorder, familial, with associated myeloid malignancy [MeSH concept]

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