Details of Disease

Disease Name

Arterial tortuosity syndrome

ATS; arterial tortuosity; arterial tortuosity syndrome

Definition

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

Disease Hierarchy

DISVS67S: Vascular disease

DIS8I9FS: Hereditary disorder of connective tissue

DIS0OJ0Q: Inherited cutis laxa

DISWG36B: Arterial tortuosity syndrome

Disease Identifiers

MONDO ID

MONDO_0008818

MESH ID

C565942

UMLS CUI

C1859726

OMIM ID

208050

MedGen ID

347942

Orphanet ID

3342

SNOMED CT ID

458432002

General Information of Disease (ID: DISWG36B)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATRAID	TTFLIKM	moderate	Biomarker	[1]
SMAD3	TTHQZV7	moderate	Genetic Variation	[2]
TGFB2	TTI0KH6	moderate	Genetic Variation	[3]
TGFBR1	TTP4520	Strong	Genetic Variation	[4]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A10	DT3BI6S	Definitive	Autosomal recessive	[5]
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This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL4A3	OT6SB8X5	moderate	Biomarker	[6]
COL4A5	OTHG60RE	moderate	Genetic Variation	[6]
EEF1E1	OTRA6XOB	moderate	Biomarker	[1]
LAMTOR1	OTIBJBW9	moderate	Biomarker	[1]
MAFK	OTZJUE4P	moderate	Biomarker	[1]
TPPP2	OTI3WA6X	moderate	Biomarker	[1]
COL4A4	OT9G0MCT	Strong	Biomarker	[6]
EFEMP2	OT0I2B4J	Strong	Genetic Variation	[7]
MUS81	OTVZ4E60	Strong	Biomarker	[8]
SLC2A10	OTL32QH7	Definitive	Autosomal recessive	[5]
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⏷ Show the Full List of 10 DOT(s)

References

1	Oxygen-Induced Retinopathy and Choroidopathy: In Vivo Longitudinal Observation of Vascular Changes Using OCTA.Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):3932-3942. doi: 10.1167/iovs.18-24320.
2	Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23.
3	A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.Eur J Hum Genet. 2014 Jul;22(7):944-8. doi: 10.1038/ejhg.2013.252. Epub 2013 Nov 6.
4	International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).Circ Cardiovasc Genet. 2016 Dec;9(6):548-558. doi: 10.1161/CIRCGENETICS.116.001485. Epub 2016 Nov 21.
5	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
6	Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.Pediatr Nephrol. 2016 Jun;31(6):941-55. doi: 10.1007/s00467-015-3302-4. Epub 2016 Jan 25.
7	Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.Pediatr Dev Pathol. 2012 Mar-Apr;15(2):137-41. doi: 10.2350/11-03-1010-CR.1. Epub 2011 Nov 9.
8	Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice.Circ Res. 2007 Mar 16;100(5):738-46. doi: 10.1161/01.RES.0000260181.19449.95. Epub 2007 Feb 9.