Tunnus
Bulge in wall of large artery that carries blood away from heart
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Enlarged aorta
- Kehasüsteem
- Abnormality of the cardiovascular system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test66 geeni on seotud tunnusega Bulge in wall of large artery that carries blood away from heart
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Bulge in wall of large artery that carries blood away from heart. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FBN1fibrillin 1 | Alati | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| TNNT2troponin T2, cardiac type | Alati | Esineb 1 haiguses |
| IPO8importin 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TGFB2transforming growth factor beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPH5diphthamide biosynthesis 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| FBLN5fibulin 5 | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH3notch receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RIN2Ras and Rab interactor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A24solute carrier family 25 member 24 | Sageli (30–79%) | Esineb 1 haiguses |
| TAB2TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARF1ARF GTPase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCRBCR activator of RhoGEF and GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRKLCRK like proto-oncogene, adaptor protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNAfilamin A | Mõnikord (5–29%) | Esineb 1 haiguses |
| HGDhomogentisate 1,2-dioxygenase | Mõnikord (5–29%) | Esineb 2 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAP1Bmicrotubule associated protein 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH3myosin heavy chain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOD2nucleotide binding oligomerization domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 26 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD6SMAD family member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNXBtenascin XB | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADARadenosine deaminase RNA specific | Harva (1–4%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Harva (1–4%) | Esineb 1 haiguses |
| IFNGinterferon gamma | Harva (1–4%) | Esineb 1 haiguses |
| LSM11LSM11, U7 small nuclear RNA associated | Harva (1–4%) | Esineb 1 haiguses |
| RNASEH2Aribonuclease H2 subunit A | Harva (1–4%) | Esineb 1 haiguses |
| RNASEH2Bribonuclease H2 subunit B | Harva (1–4%) | Esineb 1 haiguses |
| RNASEH2Cribonuclease H2 subunit C | Harva (1–4%) | Esineb 1 haiguses |
| RNU7-1RNA, U7 small nuclear 1 | Harva (1–4%) | Esineb 1 haiguses |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| TREX1three prime repair exonuclease 1 | Harva (1–4%) | Esineb 1 haiguses |
| TSC1TSC complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| TSC2TSC complex subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Pole registreeritud | Esineb 1 haiguses |
| C12orf57chromosome 12 open reading frame 57 | Pole registreeritud | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| FLNBfilamin B | Pole registreeritud | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Pole registreeritud | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast