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ErkrankungAortenerweiterung, thorakale; Differentialdiagnose

Zusammenfassung

Kurzinformation

Besonders umfassendes differentialdiagnostisches panel für thorakale Aortenerweiterung mit 22 Leitlinien-kuratierten und insgesamt 39 kuratierten Genen

ID
AP0010
Anzahl Gene
36 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
34,9 kb (Core-/Basis-Gene)
109,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACTA21134AD und/oder Mult
COL3A14401AD und/oder AR und/oder Mult
FBN18616AD und/oder Mult
LOX1254AD
MYH115919AD
MYLK5745AD
PRKG12061AD
SMAD31278AD
TGFB21245AD
TGFBR11512AD
TGFBR21704AD
ABL13450AD und/oder SMu
ADAMTSL43225AR
BGN1107XL
COL1A14395AD
COL1A24101AD und/oder AR
COL5A15517AD
COL5A24500AD
EFEMP21332AR
ELN2175AD
FBLN51347AD und/oder AR
FBN28739AD
FKBP14636AR
FLCN1740AD und/oder SMu und/oder Sus
FLNA7920XL
IPO83198AR
MAT2A1188AD
MFAP5522AD
NOTCH17668AD und/oder SMu
PLOD12184AR
SKI2187AD
SLC2A101626AR
SMAD21404AD
SMAD41659AD und/oder SMu und/oder Sus
SMAD61491AD
TGFB31239AD

Infos zur Erkrankung

Klinischer Kommentar

Gefäß-Erkrankung, die eines oder mehrere Segmente der Aorta betrifft: Wurzel, aufsteigende, Bogen oder absteigende Aorta. Abhängig von Größe, Lokalisation, Progression der Dilatation/Dissektion, können die Patienten asymptomatisch sein oder Dyspnoe, Husten, Kiefer-, Nacken-, Brustkorb-/Rückenschmerzen haben sowie Ödeme am Kopf, Hals/obere Gliedmaßen, Schluckschwierigkeiten, heisere Stimme, bleiche Haut, schwachen Puls und/oder Gefühllosigkeit/Kribbeln in den Gliedmaßen. Hohes Risiko für lebensbedrohende Aortenruptur!

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Mult
  • AD und/oder Mult
  • AD und/oder SMu
  • AD und/oder SMu und/oder Sus
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
I71.2

Bioinformatik und klinische Interpretation

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