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GENATLAS PHENOTYPE
last update : 02/10/2008
Symbol FPDAML
Location 21q22.12
Name familial platelet disorder with propensity to myeloid malignancy
Corresponding gene RUNX1
Other symbol(s) FAML1, FPDMM
Main clinical features
  • chronic thrombocytopenia with aggregation defect
  • propensity to develop acute myeloid leukemia ( AML) or predisposition to myelodysplasia (MDS)
    • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type malignancy
    Gene product
    Name transcription factor, antioncogene, protooncogene
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function missense and non sense affecting the Runt domain and intragenic deletions of one allele, inactivating mutations;A107P germline mutation of RUNX1
      deletion haploinsufficiency constitutional microdeletions in 3 patients including RUNX1,CLIC6,DSCR and KCNE1 genes
    Remark(s)
    Genotype/Phenotype correlations growth restriction, dysmorphic features and developmental delay in patients with constitutional microdeletions