Cardiology · Cardiology / Heritable aortic disease
Arterial tortuosity syndrome
also: Arterial tortuosity syndrome
Recessive connective tissue disorder with elongated tortuous arteries and aneurysms.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Heritable aortic disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- SLC2A10
- Alternative names & eponyms
- Arterial tortuosity syndrome
Etiology & mechanism
GLUT10 deficiency alters TGF-beta signaling.
Gene(s) involved (1)
Symptoms & signs (8)
In plain terms, someone with Arterial tortuosity syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Aarskog–Scott syndrome
joint laxity
1 shared
Cutis laxa syndrome
hernias
1 shared
Ehlers–Danlos syndrome, classic and cardiac-valvular types
hyperextensible skin
1 shared
Ehlers–Danlos syndrome, classical type
hyperextensible skin
1 shared
Floppy eyelid syndrome
keratoconus
1 shared
Fragile X syndrome
joint laxity
1 shared
Loeys–Dietz syndrome
joint laxity
1 shared
STAT1 gain-of-function syndrome
aneurysms
Shares genes with
None.
Loading…
Loading…