Tunnus
Bulge in wall of root of large artery that carries blood away from heart
Kliiniline nimetus: Aortic root aneurysm
An abnormal localized widening (dilatation) of the aortic root.
Kokkuvõte
- Teised nimetused
- Enlarged aortic root, Increased aortic root diameter
- Kehasüsteem
- Abnormality of the cardiovascular system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Bulge in wall of root of large artery that carries blood away from heart, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test76 geeni on seotud tunnusega Bulge in wall of root of large artery that carries blood away from heart
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Bulge in wall of root 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 |
|---|---|---|
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Alati | Esineb 2 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 4 haiguses |
| KLHL20kelch like family member 20 | Alati | Esineb 1 haiguses |
| LOXlysyl oxidase | Alati | Esineb 2 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 2 haiguses |
| BGNbiglycan | Väga sageli (80–99%) | Esineb 1 haiguses |
| IPO8importin 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROBO4roundabout guidance receptor 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC2A10solute carrier family 2 member 10 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TGFB2transforming growth factor beta 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Sageli (30–79%) | Esineb 1 haiguses |
| B3GALT6beta-1,3-galactosyltransferase 6 | Sageli (30–79%) | Esineb 2 haiguses |
| COL1A2collagen type I alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COL5A1collagen type V alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| EMILIN1elastin microfibril interfacer 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FBN2fibrillin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Sageli (30–79%) | Esineb 2 haiguses |
| NPR3natriuretic peptide receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| RAP1BRAP1B, member of RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Sageli (30–79%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Sageli (30–79%) | Esineb 2 haiguses |
| ACTA2actin alpha 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| AEBP1AE binding protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AFF4ALF transcription elongation factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANGPTL6angiopoietin like 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BICC1BicC family RNA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL3A1collagen type III alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL5A2collagen type V alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 36 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ELNelastin | Mõnikord (5–29%) | Esineb 1 haiguses |
| ENGendoglin | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GANABglucosidase II alpha subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFAP5microfibril associated protein 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MID1midline 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYLKmyosin light chain kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK8NIMA related kinase 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NKAPNFKB activating protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGM3phosphoglucomutase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PKD1polycystin 1, transient receptor potential channel interacting | Mõnikord (5–29%) | Esineb 1 haiguses |
| PKD2polycystin 2, transient receptor potential cation channel | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGFBR3transforming growth factor beta receptor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| THSD1thrombospondin type 1 domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3ADNA methyltransferase 3 alpha | Harva (1–4%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Harva (1–4%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | 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.
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