Details of Disease | DrugMAP

General Information of Disease (ID: DISTC3AW)

Disease Name	Thrombocytopenia 1
Synonyms	XLT; THC; thrombocytopenia, X-linked, 1; thrombocytopenia, X-linked; X-linked thrombocytopenia; thrombocytopenia, X-linked, intermittent; THC1; thrombocytopenia 1; thrombocytopenia, X-linked, intermittent, X-linked recessive; thrombocytopenia type 1; X-linked thrombocytopenia with normal platelets; thrombocytopenia, X-linked, X-linked recessive
Disease Hierarchy	DISANU9Q: Inherited thrombocytopenia DISTC3AW: Thrombocytopenia 1
Disease Identifiers	MONDO ID MONDO_0010743 MESH ID C564052 UMLS CUI C1839163 OMIM ID 313900 MedGen ID 326416 Orphanet ID 852

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WAS	OTD03E8M	Supportive	X-linked	[1]
BFSP2	OT3QREFR	Strong	Biomarker	[4]
GATA1	OTX1R7O1	Strong	Genetic Variation	[5]
INTS8	OT3SRRLM	Strong	Genetic Variation	[6]
NELFCD	OTOLTZPU	Strong	Genetic Variation	[7]
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This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
WAS	TTE8T73	Supportive	X-linked	[1]
THPO	TTCG5PE	Strong	Biomarker	[2]
WAS	TTE8T73	Strong	Biomarker	[3]
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References

1	WAS-Related Disorders. 2004 Sep 30 [updated 2016 Sep 22]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	WASP is involved in proliferation and differentiation of human haemopoietic progenitors in vitro.Br J Haematol. 1999 Nov;107(2):254-62. doi: 10.1046/j.1365-2141.1999.01694.x.
3	A laboratory-study on the analytical determination and removal processes of THC-COOH and bezoylecgonine in the activated sludge reactor.Chemosphere. 2019 May;222:83-90. doi: 10.1016/j.chemosphere.2019.01.117. Epub 2019 Jan 22.
4	Apparent Affinity Estimates and Reversal of the Effects of Synthetic Cannabinoids AM-2201, CP-47,497, JWH-122, and JWH-250 by Rimonabant in Rhesus Monkeys.J Pharmacol Exp Ther. 2017 Aug;362(2):278-286. doi: 10.1124/jpet.117.240572. Epub 2017 May 22.
5	X-linked thrombocytopenia with thalassemia displays bone marrow reticulin fibrosis and enhanced angiogenesis: comparisons with primary myelofibrosis.Am J Hematol. 2015 Mar;90(3):E44-8. doi: 10.1002/ajh.23907. Epub 2015 Jan 16.
6	Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.J Clin Immunol. 2010 Jul;30(4):593-601. doi: 10.1007/s10875-010-9381-x. Epub 2010 Mar 16.
7	Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome.Blood. 2014 Nov 27;124(23):3409-19. doi: 10.1182/blood-2014-07-587642. Epub 2014 Sep 24.