Details of Disease | DrugMAP

General Information of Disease (ID: DISTJQ17)

Disease Name	Obsolete congenital amegakaryocytic thrombocytopenia
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISTJQ17: Obsolete congenital amegakaryocytic thrombocytopenia

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
THPO	TTCG5PE	Supportive	Autosomal recessive	[1]
MPL	TTIHYA4	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
THPO	OTO73DZ2	Supportive	Autosomal recessive	[1]
MPL	OTZEN192	Definitive	Autosomal recessive	[2]
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References

1	Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with?romiplostim. EMBO Mol Med. 2018 Jan;10(1):63-75. doi: 10.15252/emmm.201708168.
2	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.