Arterial tortuosity syndrome
Encyclopedia
Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity
of the major arteries
including the aorta
. It is associated with hyperextensible skin
and hypermobility of joint
s.
It exhibits autosomal recessive
inheritance, and the responsible gene is located at chromosome 20q13
.
It is associated with GLUT10 (also known as SLC2A10
) and TGFBR2.
Tortuosity
Tortuosity is a property of curve being tortuous . There have been several attempts to quantify this property. Tortuosity is commonly used to describe diffusion in porous media...
of the major arteries
Artery
Arteries are blood vessels that carry blood away from the heart. This blood is normally oxygenated, exceptions made for the pulmonary and umbilical arteries....
including the aorta
Aorta
The aorta is the largest artery in the body, originating from the left ventricle of the heart and extending down to the abdomen, where it branches off into two smaller arteries...
. It is associated with hyperextensible skin
Skin
-Dermis:The dermis is the layer of skin beneath the epidermis that consists of connective tissue and cushions the body from stress and strain. The dermis is tightly connected to the epidermis by a basement membrane. It also harbors many Mechanoreceptors that provide the sense of touch and heat...
and hypermobility of joint
Joint
A joint is the location at which two or more bones make contact. They are constructed to allow movement and provide mechanical support, and are classified structurally and functionally.-Classification:...
s.
It exhibits autosomal recessive
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
inheritance, and the responsible gene is located at chromosome 20q13
Chromosome 20 (human)
Chromosome 20 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 20 spans around 63 million base pairs and represents between 2 and 2.5 percent of the total DNA in cells...
.
It is associated with GLUT10 (also known as SLC2A10
SLC2A10
Solute carrier family 2, facilitated glucose transporter member 10 is a protein that in humans is encoded by the SLC2A10 gene.-See also:* Glucose transporter* Solute carrier family* Arterial tortuosity syndrome-Further reading:...
) and TGFBR2.