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)
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
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
ACTA2 | 1134 | AD | |
COL3A1 | 4401 | AD, AR | |
FBN1 | 8616 | AD | |
LOX | 1254 | AD | |
MYH11 | 5919 | AD | |
MYLK | 5745 | AD | |
PRKG1 | 2061 | AR | |
SMAD3 | 1278 | AD | |
TGFB2 | 1245 | AD | |
TGFBR1 | 1512 | AD | |
TGFBR2 | 1704 | AD | |
ABL1 | 3450 | AD | |
ADAMTSL4 | 3225 | AR | |
BGN | 1107 | XL | |
COL1A1 | 4395 | AD | |
COL1A2 | 4101 | AD | |
COL5A1 | 5517 | AD | |
COL5A2 | 4500 | AD | |
EFEMP2 | 1332 | AR | |
ELN | 2175 | AD | |
FBLN5 | 1347 | AD, AR | |
FBN2 | 8739 | AD | |
FKBP14 | 636 | AR | |
FLCN | 1740 | AD | |
FLNA | 7920 | XL | |
IPO8 | 3198 | AR | |
MAT2A | 1188 | AD | |
MFAP5 | 522 | AD | |
NOTCH1 | 7668 | AD | |
PLOD1 | 2184 | AR | |
SKI | 2187 | AD | |
SLC2A10 | 1626 | AD | |
SMAD2 | 1404 | AD | |
SMAD4 | 1659 | AD | |
SMAD6 | 1491 | AD, SMu, Sus | |
TGFB3 | 1239 | AD |
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