arterial tortuosity syndrome
Findings
No curated finding names arterial tortuosity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008818), read 2026-09-29. CC BY 4.0.
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
77 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Generalized arterial tortuosityHPOHP:0004955
- 15 of 15 reported patients
- Long faceHPOHP:0000276
- 14 of 14 reported patients
- Frequent (30% to 79% of cases)
- Aortic tortuosityHPOHP:0006687
- 14 of 15 reported patients
- Joint hypermobilityHPOHP:0001382
- 12 of 14 reported patients
- Frequent (30% to 79% of cases)
- Abnormal carotid artery morphologyHPOHP:0005344
- Very frequent (80% to 99% of cases)
- Aortic aneurysmHPOHP:0004942
- Very frequent (80% to 99% of cases)
Show the remaining 65
- Short palpebral fissureHPOHP:0012745
- 9 of 14 reported patients
- Occasional (5% to 29% of cases)
- Abnormal zygomatic bone morphologyHPOHP:0010668
- Frequent (30% to 79% of cases)
- Aortic dissectionHPOHP:0002647
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Femoral herniaHPOHP:0100541
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC2A10HGNC:13444
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021