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Arterial tortuosity syndrome

Disease Export to PDF
Name:
Arterial tortuosity syndrome
Description:
A rare autosomal recessive 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.
ORPHAcode:
3342
Synonyms:
ATS
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
SLC2A10
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Arterial Tortuosity (2 genes) - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    SLC2A10
    EFEMP2
  • Familial Thoracic Aortic Aneurysm (genepanel) - UZA
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABL1 100.00 0
    ACTA2 100.00 0
    ARIH1 100.00 0
    ASPH 100.00 0
    BGN 100.00 0
    COL3A1 100.00 0
    EFEMP2 100.00 0
    ELN 100.00 0
    EMILIN1 100.00 0
    FBN1 100.00 1
    FBN2 100.00 0
    FKBP14 100.00 0
    FLNA 100.00 0
    FOXE3 100.00 0
    HCN4 100.00 0
    IPO8 100.00 0
    JAG1 100.00 0
    LMOD1 100.00 0
    LOX 100.00 0
    LTBP3 100.00 0
    MAT2A 100.00 0
    MFAP5 100.00 0
    MYH11 100.00 0
    MYLK 100.00 0
    NOTCH1 100.00 0
    NPR3 100.00 0
    PLOD1 100.00 0
    PMEPA1 100.00 0
    PRKG1 100.00 0
    ROBO4 100.00 0
    SKI 100.00 0
    SLC2A10 100.00 0
    SMAD2 100.00 0
    SMAD3 100.00 0
    SMAD4 100.00 0
    SMAD6 100.00 0
    TBX20 100.00 0
    TGFB2 100.00 0
    TGFB3 100.00 0
    TGFBR1 100.00 0
    TGFBR2 100.00 1
    THSD4 100.00 0