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Træk

Bulge in wall of large artery that carries blood away from heart

Klinisk navn: Aortic aneurysm

Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.

HPO HP:0004942

Resumé

Også kaldet
Enlarged aorta
Kropssystem
Abnormality of the cardiovascular system

66 gener knyttet til Bulge in wall of large artery that carries blood away from heart

Ændringer i disse gener forårsager sjældne tilstande, hvor Bulge in wall of large artery that carries blood away from heart ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.

GenHvor ofte det sesTilstande
FBN1fibrillin 1AltidI 1 tilstand
POLR1ARNA polymerase I subunit AAltidI 1 tilstand
TAF4TATA-box binding protein associated factor 4AltidI 1 tilstand
TNNT2troponin T2, cardiac typeAltidI 1 tilstand
IPO8importin 8Meget ofte (80–99 %)I 1 tilstand
SLC2A10solute carrier family 2 member 10Meget ofte (80–99 %)I 1 tilstand
SMAD2SMAD family member 2Meget ofte (80–99 %)I 1 tilstand
SMAD3SMAD family member 3Meget ofte (80–99 %)I 2 tilstande
TGFB2transforming growth factor beta 2Meget ofte (80–99 %)I 1 tilstand
TGFB3transforming growth factor beta 3Meget ofte (80–99 %)I 1 tilstand
TGFBR1transforming growth factor beta receptor 1Meget ofte (80–99 %)I 1 tilstand
TGFBR2transforming growth factor beta receptor 2Meget ofte (80–99 %)I 1 tilstand
ALDH18A1aldehyde dehydrogenase 18 family member A1Ofte (30–79 %)I 1 tilstand
DPH5diphthamide biosynthesis 5Ofte (30–79 %)I 1 tilstand
ELNelastinOfte (30–79 %)I 1 tilstand
FBLN5fibulin 5Ofte (30–79 %)I 1 tilstand
NOTCH3notch receptor 3Ofte (30–79 %)I 1 tilstand
RIN2Ras and Rab interactor 2Ofte (30–79 %)I 2 tilstande
SLC25A24solute carrier family 25 member 24Ofte (30–79 %)I 1 tilstand
TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2Ofte (30–79 %)I 1 tilstand
APC2APC regulator of Wnt signaling pathway 2Nogle gange (5–29 %)I 1 tilstand
ARF1ARF GTPase 1Nogle gange (5–29 %)I 1 tilstand
ARFGEF2ARF guanine nucleotide exchange factor 2Nogle gange (5–29 %)I 1 tilstand
BCRBCR activator of RhoGEF and GTPaseNogle gange (5–29 %)I 1 tilstand
CHRNGcholinergic receptor nicotinic gamma subunitNogle gange (5–29 %)I 1 tilstand
COL3A1collagen type III alpha 1 chainNogle gange (5–29 %)I 1 tilstand
CRKLCRK like proto-oncogene, adaptor proteinNogle gange (5–29 %)I 1 tilstand
ERMARDER membrane associated RNA degradationNogle gange (5–29 %)I 1 tilstand
FBN2fibrillin 2Nogle gange (5–29 %)I 1 tilstand
FBXO11F-box protein 11Nogle gange (5–29 %)I 1 tilstand
FLNAfilamin ANogle gange (5–29 %)I 1 tilstand
HGDhomogentisate 1,2-dioxygenaseNogle gange (5–29 %)I 2 tilstande
HNRNPKheterogeneous nuclear ribonucleoprotein KNogle gange (5–29 %)I 2 tilstande
MAP1Bmicrotubule associated protein 1BNogle gange (5–29 %)I 1 tilstand
MAPK1mitogen-activated protein kinase 1Nogle gange (5–29 %)I 1 tilstand
MED12mediator complex subunit 12Nogle gange (5–29 %)I 1 tilstand
MYH3myosin heavy chain 3Nogle gange (5–29 %)I 1 tilstand
NEDD4LNEDD4 like E3 ubiquitin protein ligaseNogle gange (5–29 %)I 1 tilstand
NOD2nucleotide binding oligomerization domain containing 2Nogle gange (5–29 %)I 1 tilstand
NSD1nuclear receptor binding SET domain protein 1Nogle gange (5–29 %)I 1 tilstand
Vis 26 gener mere
GenHvor ofte det sesTilstande
PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1Nogle gange (5–29 %)I 1 tilstand
PTENphosphatase and tensin homologNogle gange (5–29 %)I 1 tilstand
RAI1retinoic acid induced 1Nogle gange (5–29 %)I 1 tilstand
SKISKI proto-oncogeneNogle gange (5–29 %)I 1 tilstand
SMAD6SMAD family member 6Nogle gange (5–29 %)I 1 tilstand
TMTC3transmembrane O-mannosyltransferase targeting cadherins 3Nogle gange (5–29 %)I 1 tilstand
TNXBtenascin XBNogle gange (5–29 %)I 1 tilstand
ADARadenosine deaminase RNA specificSjældent (1–4%)I 1 tilstand
IFIH1interferon induced with helicase C domain 1Sjældent (1–4%)I 1 tilstand
IFNGinterferon gammaSjældent (1–4%)I 1 tilstand
LSM11LSM11, U7 small nuclear RNA associatedSjældent (1–4%)I 1 tilstand
RNASEH2Aribonuclease H2 subunit ASjældent (1–4%)I 1 tilstand
RNASEH2Bribonuclease H2 subunit BSjældent (1–4%)I 1 tilstand
RNASEH2Cribonuclease H2 subunit CSjældent (1–4%)I 1 tilstand
RNU7-1RNA, U7 small nuclear 1Sjældent (1–4%)I 1 tilstand
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1Sjældent (1–4%)I 1 tilstand
SPTBN1spectrin beta, non-erythrocytic 1Sjældent (1–4%)I 1 tilstand
TREX1three prime repair exonuclease 1Sjældent (1–4%)I 1 tilstand
TSC1TSC complex subunit 1Sjældent (1–4%)I 1 tilstand
TSC2TSC complex subunit 2Sjældent (1–4%)I 1 tilstand
ACTA2actin alpha 2, smooth muscleIkke registreretI 1 tilstand
C12orf57chromosome 12 open reading frame 57Ikke registreretI 1 tilstand
COL1A1collagen type I alpha 1 chainIkke registreretI 1 tilstand
FLNBfilamin BIkke registreretI 1 tilstand
FOXE3forkhead box E3Ikke registreretI 1 tilstand
MYLKmyosin light chain kinaseIkke registreretI 1 tilstand

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Snævrere træk

Bredere træk

Abnormal aortic morphologyAneurysm

Hvor oplysningerne kommer fra

  • Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
  • Dataudgivelse 2026.10.17-8666dff2.

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