ARTERIAL TORTUOSITY SYNDROME (ATS)

rare autosomal recessive loss-of-function mutations in the SLC2A10 gene encoding GLUT10

Question 1

What is  ARTERIAL TORTUOSITY SYNDROME (ATS)?

Accepted Answer

rare
autosomal recessive
loss-of-function mutations in the SLC2A10 gene encoding GLUT10

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Arterial-Tortuosity-Syndrom; Geschlängelte Arterien

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 208050

Question 4

Which enzymes are involved?

Accepted Answer

Solute carrier family 2, facilitated glucose transporter member 10 (SLC2A10)

Disease	ARTERIAL TORTUOSITY SYNDROME (ATS)
Synonym	ARTERIAL TORTUOSITY
OMIM	208050 OMIM = Online Mendelian Inheritance of Men
Orphanet	3342
Protein (UniProt)	Solute carrier family 2, facilitated glucose transporter member 10 (SLC2A10)
Gene locus	20q13.12
ICD	I77.1
Summary	rare autosomal recessive loss-of-function mutations in the SLC2A10 gene encoding GLUT10
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	aneurysms of arteries aortic stenosis arachnodyctyly arterial tortuosity corneal deposits heart involvement hernia high arched palate hypertelorism hypertension hypotonia joint hypermobilty, dislocations, laxity joint laxity long, broad, prominent philtrum mental retardation myopia onset, neonatal pulmonary artery stenosis skeletal changes, skeletal abnormalities skin hyperelasticity small chin or micrognathia strokelike episodes thrombosis