Details of Disease | DrugMAP

General Information of Disease (ID: DISSBM2M)

Disease Name	Congenital amegakaryocytic thrombocytopenia 1
Synonyms	thrombocytopenia congenital amegakaryocytic; CAMT1; thrombocytopenia, congenital amegakaryocytic; congenital amegakaryocytic thrombocytopenic purpura; amegakaryocytic thrombocytopenia, congenital 1
Definition	A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and 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.
Disease Hierarchy	DISAWDAB: Congenital hematological disorder DISA8WAP: Congenital amegakaryocytic thrombocytopenia DISSBM2M: Congenital amegakaryocytic thrombocytopenia 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MPL	TTIHYA4	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPL	OTZEN192	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.