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GENATLAS PHENOTYPE
last update : 17/12/2005
Symbol TCDM
Location 11q23.3
Name thrombocytopenia, Paris-Trousseau type
Other name(s) congenital dysmegakaryopoietic
Corresponding gene FLI1
Other symbol(s) TCPT
Main clinical features
  • characterized by mild hemorrhagic tendency, congenital dysmegakaryocytic, with giant platelet alpha-granules
  • associated with a 11q23 deletion Paris-Trousseau type overlapping with the Jacobsen syndrome
    • Genetic determination chromosomal
    Related entries DEL11QD
    Function/system disorder hematology
    Type disease
    Gene product
    Name FLI1 shows monoallelic expression during a brief window in megakaryocyte differentiation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   overlapping with Jacobsen syndrome
    Remark(s)
  • point to the role of transient monoallelic expression of a gene essential for differentiation in the genesis of human haploinsufficiency-associated disease