Details of Disease | DrugMAP

General Information of Disease (ID: DISLQO9K)

Disease Name	Autosomal dominant aplasia and myelodysplasia
Synonyms	BMFS1; bone marrow failure syndrome 1; bone marrow failure syndrome type 1; autosomal dominant aplastic anemia and myelodysplasia; autosomal dominant aplastic anaemia and myelodysplasia
Disease Hierarchy	DISO9M7N: Inherited aplastic anemia DISVUY1J: Bone marrow failure syndrome DISLQO9K: Autosomal dominant aplasia and myelodysplasia
Disease Identifiers	MONDO ID MONDO_0013851 UMLS CUI C3808553 OMIM ID 614675 MedGen ID 814883 Orphanet ID 314399

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
CSF2	TTNYZG2	Strong	Therapeutic	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SRP72	OTPV73W7	Strong	Autosomal dominant	[2]
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References

1	GM-CSF in busulfan overdosage.Eur J Haematol. 1990 Sep;45(3):183-4. doi: 10.1111/j.1600-0609.1990.tb00452.x.
2	Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet. 2012 May 4;90(5):888-92. doi: 10.1016/j.ajhg.2012.03.020. Epub 2012 Apr 26.