AtlasTunnus
Abnormal aortic morphology
An abnormality of the aorta.
Kokkuvõte
- Teised nimetused
- Abnormal aorta morphology, Abnormality of the aorta
- Kehasüsteem
- Abnormality of the cardiovascular system
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-aortic-morphology.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Abnormal aortic morphology-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test22 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Fanconi AnemiaReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- DNA Repair DiseaseReads 18 of these genesBRCA1BRCA2BRIP1ERCC4FANCAFANCBAbout this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 2 of these genesBRCA1BRCA2About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 3 of these genesBUB1BCEP57TRIP13About this report →
Show 18 more reports
- Breast and Ovarian Cancer Genes Beyond BRCA1/2Reads 3 of these genesBRIP1PALB2RAD51CAbout this report →
- FANCM-Related Genomic Instability DisorderReads 1 of these genesFANCMAbout this report →
- PALB2 related diseasesReads 1 of these genesPALB2About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesGATA4TBX5About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Female InfertilityReads 2 of these genesFANCMTRIP13About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesGATA4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGNAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesGATA4About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Noonan SyndromeReads 1 of these genesKRASAbout this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR1About this report →
- Diabetes MellitusReads 1 of these genesGATA4About this report →
- Male InfertilityReads 1 of these genesFANCMAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesKRASAbout this report →
- Congenital Disorders of GlycosylationReads 1 of these genesPIGNAbout this report →
- Other Inborn Errors of ImmunityReads 1 of these genesKRASAbout this report →
Lugege välja geenid, mis on seotud Abnormal aortic morphology-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test36 geeni on seotud tunnusega Abnormal aortic morphology
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal aortic morphology. 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 |
|---|---|---|
| BRCA1BRCA1 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRCA2BRCA2 DNA repair associated | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRIP1BRCA1 interacting DNA helicase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCAFA complementation group A | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCBFA complementation group B | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCCFA complementation group C | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCD2FA complementation group D2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCEFA complementation group E | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCFFA complementation group F | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCGFA complementation group G | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCIFA complementation group I | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCLFA complementation group L | Mõnikord (5–29%) | Esineb 1 haiguses |
| FANCMFA complementation group M | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAD2L2mitotic arrest deficient 2 like 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PALB2partner and localizer of BRCA2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51RAD51 recombinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAD51CRAD51 paralog C | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFWD3ring finger and WD repeat domain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLX4SLX4 structure-specific endonuclease subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBE2Tubiquitin conjugating enzyme E2 T | Mõnikord (5–29%) | Esineb 1 haiguses |
| XRCC2X-ray repair cross complementing 2 | Mõnikord (5–29%) | 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
- Narrowing of aorta159 geeni
- Bulge in wall of large artery that carries blood away from heart66 geeni
- Tear in inner wall of large artery that carries blood away from heart35 geeni
- Overriding aorta27 geeni
- Calcification of the aorta20 geeni
- Aortopulmonary collateral arteries15 geeni
- Abnormal aortic arch morphology14 geeni
- Aortic atherosclerotic lesion9 geeni
- Aortic tortuosity8 geeni
- Aortic rupture2 geeni
- Abnormal ascending aorta morphology
- Medial degeneration
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 2026.10.19-9814e911.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
