congenital amegakaryocytic thrombocytopenia 1
Findings
No curated finding names congenital amegakaryocytic thrombocytopenia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital amegakaryocytic thrombocytopenia in which the cause of the disease is a variation in the MPL gene. It is characterized by severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The disorder reflects impaired TPO–MPL signaling leading to failure of megakaryopoiesis, but shows a favorable response to bone‑marrow transplantation.
Definition from the Mondo Disease Ontology (MONDO:0800452), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Melanocytic nevusHPOHP:0000995
- Frequent (30% to 79% of cases)
- Scoliosis
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MPLHGNC:7217
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: congenital amegakaryocytic thrombocytopenia 1
- Also called
- CAMT1MPL-related congenital amegakaryocytic thrombocytopenia