Familial Platelet Disorder with propensity for Acute Myeloid Leukemia

Also known as

  • FPD/AML or Familial Platelet Disorder with Associated Myeloid Malignancy

A Familial Platelet Disorder with associated risk of acute Myeloid Leukemia (AML).

Condition details

RUNX1 FPD/AML is familial platelet disorder with a predisposition to acute myeloid leukemia. RUNX1 FPD/AML is a pre-leukemic disorder involving an autosomal dominant, inherited qualitative/quantitative defect of platelets associated with an approximately 50% lifetime risk of developing AML (an acute form of leukemia). In other words, it is inherited blood cancer, where someone is born with one of their two RUNX1 genes mutated.

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Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Does not manifest in Child 4-10
  • Does not manifest in Child 10-18
  • Does not manifest in Adult

Symptoms

Affected genes identified to date

  • RUNX1

Inheritance patterns

Is Autosomal dominant

Each child of someone with the condition has a one in two chance of inheriting the RUNX1 gene change (mutation).

Are carriers affected?

Thrombocytopenia

How many are affected?

Grossly under-reported. But likely that at least 5% of all who acquire AML had the inherited RUNX1 mutation.

Support groups and organisations

Mr Timothy Babich
The RUNX1 Research Program
788 San Ysidro Ln
Santa Barbara
California
93108
USA
Tel 805 319 5692
Facebook https://www.facebook.com/groups/runx1/

Known experts

Dr Nancy Speck
Field of interest
Tel
Facebook
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