Familial platelet disorder

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Familial platelet disorder with associated myeloid malignancy

ORPHA:71290Disease

Also called FPD/AML · FPDMM · FPS/AML · Familial platelet disorder with predisposition to acute myelogenous leukemia · Familial platelet disorder with predisposition to myeloid malignancy · Familial platelet disorder with propensity to acute myeloid leukemia · Familial thrombocytopenia with propensity to acute myelogenous leukemia · RUNX1 familial platelet disorder · RUNX1 familial platelet disorder with associated myeloid malignancies · RUNX1-FPD · RUNX1-FPDMM

What it is

A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Adolescent, Adult, Childhood, Infancy
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Gene

RUNX1Disease-causing germline mutation(s)

ICD-10 codes

D69.1filed under a broader ICD-10 category — shared with 14 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 10352MESH C563324MONDO 0011071MONDO 11071OMIM 601399UMLS C1832388

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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