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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessAortectasia, thoracic; differential diagnosis

Summary

Short information

Especially comprehensive differential diagnostic panel for thoracic aortectasia comprising 22 guideline-curated and altogether 39 curated genes

ID
AP0010
Number of genes
36 Accredited laboratory test
Examined sequence length
34,9 kb (Core-/Core-canditate-Genes)
109,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ACTA21134AD
COL3A14401AD, AR
FBN18616AD
LOX1254AD
MYH115919AD
MYLK5745AD
PRKG12061AR
SMAD31278AD
TGFB21245AD
TGFBR11512AD
TGFBR21704AD
ABL13450AD
ADAMTSL43225AR
BGN1107XL
COL1A14395AD
COL1A24101AD
COL5A15517AD
COL5A24500AD
EFEMP21332AR
ELN2175AD
FBLN51347AD, AR
FBN28739AD
FKBP14636AR
FLCN1740AD
FLNA7920XL
IPO83198AR
MAT2A1188AD
MFAP5522AD
NOTCH17668AD
PLOD12184AR
SKI2187AD
SLC2A101626AD
SMAD21404AD
SMAD41659AD
SMAD61491AD, SMu, Sus
TGFB31239AD

Informations about the disease

Clinical Comment

Vascular disease affecting one or more segments (root, ascending, arch or descending aorta). Depending on size, location, progression rate of dilatation/dissection, patients may be asymptomatic or present dyspnea, cough, jaw, neck, chest/back pain, head, neck/upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Increased risk of presenting life threatening aortic rupture

 

Synonyms
  • Alias: Aortic aneurysm, familial thoracic
  • Alias: Familial TAAD
  • Alias: Familiäre TAAD
  • Alias: Heritable thoracic aortic aneurysm or dissection, HTAD
  • Alias: Thoracic aortic aneurysm or dissection, TAD
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
  • Allelic: Caffey disease (COL1A1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Colorectal cancer, somatic (FLCN)
  • Allelic: Craniosynostosis 7, susceptibility to (SMAD6)
  • Allelic: Ectopia lentis et pupillae (ADAMTSL4)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Ectopia lentis, isolated, AR (ADAMTSL4)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: Leukemia, Philadelphia chromosome +, resistant to imatinib (ABL1)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Macular degeneration, early-onset (FBN2)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MYLK)
  • Allelic: Moyamoya disease 5 (ACTA2)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Multisystemic smooth muscle dysfunction (ACTA2)
  • Allelic: Neuropathy, hereditary, +/- age-related macular degeneration (FBLN5)
  • Allelic: Opitz-Kaveggia syndrome (MED12)
  • Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
  • Allelic: Polymicrogyria with or without vascular-type EDS (COL3A1)
  • Allelic: Radioulnar synostosis, nonsyndromic (SMAD6)
  • Allelic: Renal carcinoma, chromophobe, somatic (FLCN)
  • Allelic: Spondyloepimetaphyseal dysplasia, XL (BGN)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Supravalvar aortic stenosis (ELN)
  • Allelic: Thrombosis, hyperhomocysteinemic (CBS)
  • Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
  • Alport syndrome 1, XL (COL4A5)
  • Aortic aneurysm, familial thoracic 10 (LOX)
  • Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
  • Aortic aneurysm, familial thoracic 4 (MYH11)
  • Aortic aneurysm, familial thoracic 6 (ACTA2)
  • Aortic aneurysm, familial thoracic 7 (MYLK)
  • Aortic aneurysm, familial thoracic 8 (PRKG1)
  • Aortic aneurysm, familial thoracic 9 (MFAP5)
  • Aortic valve disease 2 (SMAD6)
  • Birt-Hogg-Dube syndrome (FLCN)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Congenital heart defects + skeletal malformations syndrome (ABL1)
  • Contractural arachnodactyly, congenital (FBN2)
  • Cutis laxa, AD 2 (FBLN5)
  • Cutis laxa, AR, type IA (FBLN5)
  • Cutis laxa, autosomal dominant (ELN)
  • Cutis laxa, autosomal recessive, type IB (EFEMP2)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Ehlers-Danlos syndrome, classic type, 1 (COL5A1)
  • Ehlers-Danlos syndrome, classic type, 2 (COL5A2)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Familial thoracic aortic aneurysm, aortic dissection (FOXE3, MFAP5)
  • Homocystinuria, B6-responsive + nonresponsive types (CBS)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Lujan-Fryns syndrome (MED12)
  • Marfan syndrome (FBN1)
  • Meester-Loeys syndrome (BGN)
  • Ohdo syndrome, XL (MED12)
  • Pneumothorax, primary spontaneous (FLCN)
  • Polycystic kidney disease 1 (PKD1)
  • Polycystic kidney disease 2 (PKD2)
  • VISS syndrome (IPO8)
Heredity, heredity patterns etc.
  • AD
  • AR
  • SMu
  • Sus
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I71.2

Bioinformatics and clinical interpretation

No text defined