Details of Disease | DrugMAP

General Information of Disease (ID: DIS2DB7A)

Disease Name	Vascular malformation
Synonyms	malformation, vascular; malformations, vascular; vascular malformation
Definition	A non-neoplastic disorder that is the result of defects of vascular morphogenesis.\|The majority are present at birth. Some can be acquired.
Disease Hierarchy	DISVS67S: Vascular disease DIS2DB7A: Vascular malformation
Disease Identifiers	MONDO ID MONDO_0024291 MESH ID D054079 UMLS CUI C0158570 MedGen ID 56387 SNOMED CT ID 783806000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNAQ	TTL1SRG	Limited	Biomarker	[1]
TEK	TT9VGXW	Limited	Genetic Variation	[2]
TIE1	TTT4236	Limited	Biomarker	[3]
ACVRL1	TTGYPTC	moderate	Biomarker	[4]
VWF	TT3SZBT	moderate	Biomarker	[5]
GDF2	TTAP4T1	Strong	Biomarker	[6]
PIK3CA	TTEUNMR	Strong	Autosomal dominant	[7]
RASA1	TTPNZ1F	Strong	Biomarker	[8]
YES1	TT0SQ8J	Strong	Biomarker	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGGF1	OTA7U2T8	Limited	Biomarker	[10]
PDCD10	OTCHJTSF	Limited	Biomarker	[11]
KRIT1	OT58AP1I	moderate	Genetic Variation	[12]
ARL6IP6	OT2OU9R2	Strong	Genetic Variation	[13]
ELMO2	OTKDOC2M	Strong	Genetic Variation	[14]
PIK3CA	OTTOMI8J	Strong	Autosomal dominant	[7]
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⏷ Show the Full List of 6 DOT(s)

References

1	Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome.J Mol Graph Model. 2017 Sep;76:429-440. doi: 10.1016/j.jmgm.2017.07.011. Epub 2017 Jul 29.
2	A Tie2 kinase mutation causing venous malformations increases phosphorylation rates and enhances cooperativity.Biochem Biophys Res Commun. 2019 Feb 19;509(4):898-902. doi: 10.1016/j.bbrc.2019.01.020. Epub 2019 Jan 11.
3	Giant liver hemangioma in three sisters.J Gastroenterol Hepatol. 2004 Mar;19(3):344-5. doi: 10.1111/j.1440-1746.2004.02890.x.
4	Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1.Am J Hum Genet. 2019 Nov 7;105(5):894-906. doi: 10.1016/j.ajhg.2019.09.010. Epub 2019 Oct 17.
5	Large Renal Arteriovenous Malformation in a Patient With von Willebrand Disease.Urology. 2019 Aug;130:211-212. doi: 10.1016/j.urology.2019.04.024. Epub 2019 Apr 30.
6	Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia.Mol Genet Genomic Med. 2018 May;6(3):350-356. doi: 10.1002/mgg3.377. Epub 2018 Mar 6.
7	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
8	RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity.J Clin Invest. 2014 Jun;124(6):2774-84. doi: 10.1172/JCI67084. Epub 2014 May 16.
9	Deletion of yes-associated protein (YAP) specifically in cardiac and vascular smooth muscle cells reveals a crucial role for YAP in mouse cardiovascular development.Circ Res. 2014 Mar 14;114(6):957-65. doi: 10.1161/CIRCRESAHA.114.303411. Epub 2014 Jan 29.
10	Novel roles of GATA1 in regulation of angiogenic factor AGGF1 and endothelial cell function.J Biol Chem. 2009 Aug 28;284(35):23331-43. doi: 10.1074/jbc.M109.036079. Epub 2009 Jun 25.
11	First case of neutropenia and thrombocytopenia in the setting of cerebral cavernous malformation 3.Int J Hematol. 2019 Jul;110(1):95-101. doi: 10.1007/s12185-019-02626-w. Epub 2019 Mar 23.
12	A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family.J Mol Neurosci. 2017 Feb;61(2):221-226. doi: 10.1007/s12031-017-0881-5. Epub 2017 Feb 3.
13	ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015 Aug;134(8):815-22. doi: 10.1007/s00439-015-1561-6. Epub 2015 May 10.
14	Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up.Ann Plast Surg. 2019 Sep;83(3):293-299. doi: 10.1097/SAP.0000000000001786.