Details of Disease | DrugMAP

General Information of Disease (ID: DIS2B0NW)

Disease Name	Obsolete hereditary isolated aplastic anemia
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS2B0NW: Obsolete hereditary isolated aplastic anemia

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
MPL	TTIHYA4	Supportive	Autosomal dominant	[1]
THPO	TTCG5PE	Supportive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACD	OTC54EPO	Supportive	Autosomal dominant	[3]
MPL	OTZEN192	Supportive	Autosomal dominant	[1]
THPO	OTO73DZ2	Supportive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. Haematologica. 2012 Apr;97(4):524-8. doi: 10.3324/haematol.2011.052787. Epub 2011 Dec 16.
2	Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia. Blood. 2013 Nov 14;122(20):3440-9. doi: 10.1182/blood-2012-12-473538. Epub 2013 Oct 1.
3	Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. Blood. 2014 Oct 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.