Details of Disease | DrugMAP

General Information of Disease (ID: DISCMKMX)

Disease Name	Acquired aplastic anemia
Synonyms	rare acquired aplastic anaemia; rare acquired aplastic anemia; acquired aplastic anemia
Definition	An instance of aplastic anemia that is acquired during the lifetime of the individual.
Disease Hierarchy	DISJRSC0: Aplastic anemia DISCMKMX: Acquired aplastic anemia
Disease Identifiers	MONDO ID MONDO_0015610 UMLS CUI C0271907 MedGen ID 543648 Orphanet ID 164823 SNOMED CT ID 55907008

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
DGKZ	TTSBBXL	Strong	Biomarker	[1]
GPI	TT19JIZ	Strong	Biomarker	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
EPHX1	DELB4KP	Strong	Genetic Variation	[3]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTL6A	OT0EC5BQ	Strong	Biomarker	[4]
DPF2	OTL0JH2C	Strong	Biomarker	[4]
ECI2	OT2TP4IX	Strong	Biomarker	[5]
GAR1	OTA580RX	Strong	Genetic Variation	[6]
GATA2	OTBP2QQ2	Strong	Genetic Variation	[7]
SBDS	OTHDCCIB	Strong	Genetic Variation	[8]
SMARCC1	OTUOMBE7	Strong	Biomarker	[4]
SMARCD1	OTHFFT6G	Strong	Biomarker	[4]
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⏷ Show the Full List of 8 DOT(s)

References

1	Dysregulated miR34a/diacylglycerol kinase interaction enhances T-cell activation in acquired aplastic anemia.Oncotarget. 2017 Jan 24;8(4):6142-6154. doi: 10.18632/oncotarget.14046.
2	A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patients with aplastic anemia.Eur J Haematol. 2006 Jun;76(6):502-9. doi: 10.1111/j.0902-4441.2005.t01-1-EJH2467.x. Epub 2006 Mar 9.
3	The clinical relevance and prognostic significance of microsomal epoxide hydrolase gene polymorphisms and their susceptibility to acquired aplastic anemia: an Egyptian study.Biomarkers. 2016 Jul;21(5):416-23. doi: 10.3109/1354750X.2016.1141992. Epub 2016 Mar 21.
4	SWI/SNF subunit expression heterogeneity in human aplastic anemia stem/progenitors.Exp Hematol. 2018 Jun;62:39-44.e2. doi: 10.1016/j.exphem.2018.03.005. Epub 2018 Mar 27.
5	Diazepam-binding inhibitor-related protein 1: a candidate autoantigen in acquired aplastic anemia patients harboring a minor population of paroxysmal nocturnal hemoglobinuria-type cells.Blood. 2004 Oct 15;104(8):2425-31. doi: 10.1182/blood-2004-05-1839. Epub 2004 Jun 24.
6	NOLA1 gene mutations in acquired aplastic anemia.Pediatr Blood Cancer. 2009 Mar;52(3):376-8. doi: 10.1002/pbc.21813.
7	Pediatric MDS: GATA screen the germline.Blood. 2016 Mar 17;127(11):1377-8. doi: 10.1182/blood-2016-01-690016.
8	Mutations in the SBDS gene in acquired aplastic anemia.Blood. 2007 Aug 15;110(4):1141-6. doi: 10.1182/blood-2007-03-080044. Epub 2007 May 3.