Details of Disease | DrugMAP

General Information of Disease (ID: DISVUY1J)

Disease Name	Bone marrow failure syndrome
Definition	Genetic heterogeneity of OMIM 614675 includes 615715.
Disease Hierarchy	DIS582WT: Bone marrow disorder DISYKSRF: Genetic disease DISVUY1J: Bone marrow failure syndrome
Disease Identifiers	MONDO ID MONDO_0000159 MESH ID D000080983 UMLS CUI C2931245 MedGen ID 419754

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 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DKC1	OTX7DJR6	Limited	Biomarker	[2]
CTC1	OTRJY7QD	Strong	Genetic Variation	[3]
GATA2	OTBP2QQ2	Strong	Genetic Variation	[4]
PIGA	OT51UWUR	Strong	Genetic Variation	[5]
PRDM8	OTRA3265	Strong	Biomarker	[6]
RPS19	OTBKGP48	Strong	Biomarker	[7]
RPS28	OT12IES1	Strong	Biomarker	[7]
SHQ1	OTFBXX2H	Strong	Biomarker	[8]
SRP72	OTPV73W7	Strong	Genetic Variation	[4]
TINF2	OT861N2N	Definitive	Genetic Variation	[9]
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⏷ Show the Full List of 10 DOT(s)

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	Short telomeres resulting from heritable mutations in the telomerase reverse transcriptase gene predispose for a variety of malignancies.Ann N Y Acad Sci. 2009 Sep;1176:178-90. doi: 10.1111/j.1749-6632.2009.04565.x.
3	Impact of germline CTC1 alterations on telomere length in acquired bone marrow failure.Br J Haematol. 2019 Jun;185(5):935-939. doi: 10.1111/bjh.15862. Epub 2019 Mar 19.
4	Genetic predisposition syndromes: when should they be considered in the work-up of MDS?.Best Pract Res Clin Haematol. 2015 Mar;28(1):55-68. doi: 10.1016/j.beha.2014.11.004. Epub 2014 Nov 12.
5	Circulating PIG-A mutant T lymphocytes in healthy adults and patients with bone marrow failure syndromes.Exp Hematol. 2001 Dec;29(12):1403-9. doi: 10.1016/s0301-472x(01)00746-9.
6	DNA methylation in PRDM8 is indicative for dyskeratosis congenita.Oncotarget. 2016 Mar 8;7(10):10765-72. doi: 10.18632/oncotarget.7458.
7	Identification of differentially expressed genes and pathways in mice exposed to mixed field neutron/photon radiation.BMC Genomics. 2018 Jun 28;19(1):504. doi: 10.1186/s12864-018-4884-6.
8	Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Mol Genet Genomic Med. 2017 Nov;5(6):805-808. doi: 10.1002/mgg3.314. Epub 2017 Aug 15.
9	TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30.