Acute megakaryoblastic leukemia in children

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Acute megakaryoblastic leukemia in children with Down syndrome

ORPHA:99887Clinical subtype

Also called Acute megakaryoblastic leukemia in children with trisomy 21 · DS-AMKL in children with Down syndrome · DS-AMKL in children with trisomy 21

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Childhood
Inheritance
Not applicable
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
<1 / 1 000 000 (annual incidence, Europe)Acute megakaryoblastic leukemia

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

GATA1Disease-causing somatic mutation(s)

ICD-10 codes

C94.2filed under a broader ICD-10 category — shared with 3 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

MONDO 0020526UMLS C5925108

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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