amegakaryocytic thrombocytopenia, congenital, 2
Findings
No curated finding names amegakaryocytic thrombocytopenia, congenital, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital amegakaryocytic thrombocytopenia caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by infantile- or early childhood-onset thrombocytopenia with markedly reduced or absent megakaryocytes, often progressing to pancytopenia, aplastic anemia, and hypocellular bone marrow, with decreased or inappropriately normal serum thrombopoietin.
Definition from the Mondo Disease Ontology (MONDO:0957575), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
7 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.
- AnemiaHPOHP:0001903
- 2 of 2 reported patients
- Aplastic anemiaHPOHP:0001915
- 2 of 2 reported patients
- Bone marrow hypocellularityHPOHP:0005528
- 6 of 6 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 2 of 2 reported patients
- PancytopeniaHPOHP:0001876
- 5 of 5 reported patients
- ThrombocytopeniaHPOHP:0001873
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.
- THPOHGNC:11795
- Definitive · ClinGen · Semidominant · 2024
Where it sits
Other names
1 name
Resolves to: amegakaryocytic thrombocytopenia, congenital, 2
- Also called
- THPO-related congenital amegakaryocytic thrombocytopenia