Details of Disease | DrugMAP

General Information of Disease (ID: DISFGGTG)

Disease Name	Glanzmann thrombasthenia
Synonyms	Glanzmann thrombasthenia
Disease Hierarchy	DIS1DL2M: Inherited blood coagulation disorder DISIUNXT: Inherited bleeding disorder, platelet-type DISFGGTG: Glanzmann thrombasthenia
Disease Identifiers	MONDO ID MONDO_0100326 MESH ID D013915 UMLS CUI C0040015 OMIM ID 273800 MedGen ID 52736 Orphanet ID 849 SNOMED CT ID 32942005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GP6	TTTJUVZ	Limited	Altered Expression	[1]
TLN1	TTQSMFG	Limited	Biomarker	[2]
TUBB1	TT63KYR	Limited	Genetic Variation	[3]
NR1D1	TTAD1O8	moderate	Biomarker	[4]
GP1BA	TTVB0Q9	Strong	Genetic Variation	[5]
ITGB3	TTJA1ZO	Definitive	Autosomal recessive	[6]
ITGB3	TTJA1ZO	Definitive	Genetic Variation	[7]
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⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FERMT3	OTFQOT3C	Limited	Biomarker	[2]
HPSE2	OTGEPP8V	Limited	Genetic Variation	[8]
KCNMB2	OTBXUQGK	Limited	Genetic Variation	[9]
KCNMB3	OT2SRKQE	Limited	Genetic Variation	[9]
LAD1	OT6YGTVX	Limited	Biomarker	[10]
LGALS8	OT71LJ8T	Limited	Biomarker	[11]
PRB2	OTAD4JZ0	Limited	Genetic Variation	[12]
BHLHE22	OTZUQY5L	Strong	Biomarker	[13]
POU2F3	OTIOOJWD	Strong	Genetic Variation	[14]
ITGA2B	OT4Y17PY	Definitive	Autosomal recessive	[6]
ITGB3	OTWCK1K6	Definitive	Autosomal recessive	[6]
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⏷ Show the Full List of 11 DOT(s)

References

1	Mass Cytometry Reveals Distinct Platelet Subtypes in Healthy Subjects and Novel Alterations in Surface Glycoproteins in Glanzmann Thrombasthenia.Sci Rep. 2018 Jul 9;8(1):10300. doi: 10.1038/s41598-018-28211-5.
2	Lessons from rare maladies: leukocyte adhesion deficiency syndromes.Curr Opin Hematol. 2013 Jan;20(1):16-25. doi: 10.1097/MOH.0b013e32835a0091.
3	A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.J Thromb Haemost. 2019 Dec;17(12):2211-2215. doi: 10.1111/jth.14622. Epub 2019 Sep 29.
4	Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17.Br J Haematol. 1998 Jul;102(2):582-7. doi: 10.1046/j.1365-2141.1998.00798.x.
5	Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.Sci Transl Med. 2019 Dec 11;11(522):eaay0203. doi: 10.1126/scitranslmed.aay0203.
6	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
7	Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.Platelets. 2020;31(3):355-359. doi: 10.1080/09537104.2019.1615614. Epub 2019 May 14.
8	Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3.J Thromb Haemost. 2003 Mar;1(3):573-5. doi: 10.1046/j.1538-7836.2003.00107.x.
9	Critical role of beta3 integrin in experimental postmenopausal osteoporosis.J Bone Miner Res. 2005 Dec;20(12):2116-23. doi: 10.1359/JBMR.050724. Epub 2005 Jul 25.
10	Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.Nat Med. 2009 Mar;15(3):306-12. doi: 10.1038/nm.1931. Epub 2009 Feb 22.
11	Human platelets express and are activated by galectin-8.Biochem J. 2010 Dec 15;432(3):535-47. doi: 10.1042/BJ20100538.
12	Inherited platelet disorders and oral health.J Oral Pathol Med. 2013 Feb;42(2):115-24. doi: 10.1111/j.1600-0714.2012.01151.x. Epub 2012 May 15.
13	Patients with Glanzmann thrombasthenia lacking platelet glycoprotein alpha(IIb)beta(3) (GPIIb/IIIa) and alpha(v)beta(3) receptors are not protected from atherosclerosis.Circulation. 2002 Mar 5;105(9):1044-8. doi: 10.1161/hc0902.104676.
14	Modulation of clinical phenotype of Glanzmann's thrombasthenia by thrombogenic mutations.Clin Chim Acta. 2009 May;403(1-2):156-8. doi: 10.1016/j.cca.2009.02.009. Epub 2009 Feb 24.