Tunnus
Abnormal left ventricular function
Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.
Kokkuvõte
- Teised nimetused
- Impaired left ventricular function, Left ventricular dysfunction, Left ventricular failure, Left ventricular impairment, Left-sided heart failure
- Kehasüsteem
- Abnormality of the cardiovascular system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
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Telli oma Genome Test73 geeni on seotud tunnusega Abnormal left ventricular function
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal left ventricular function. 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 |
|---|---|---|
| DSTdystonin | Alati | Esineb 1 haiguses |
| NEXNnexilin F-actin binding protein | Alati | Esineb 1 haiguses |
| FLNCfilamin C | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIF20Akinesin family member 20A | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYPNmyopalladin | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNNI3troponin I3, cardiac type | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNNT2troponin T2, cardiac type | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCG5ATP binding cassette subfamily G member 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ABCG8ATP binding cassette subfamily G member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA2actin alpha 2, smooth muscle | Sageli (30–79%) | Esineb 1 haiguses |
| APOBapolipoprotein B | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ELNelastin | Sageli (30–79%) | Esineb 1 haiguses |
| FBN1fibrillin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FOXE3forkhead box E3 | Sageli (30–79%) | Esineb 1 haiguses |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LDLRlow density lipoprotein receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 2 haiguses |
| LOXlysyl oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| MAT2Amethionine adenosyltransferase 2A | Sageli (30–79%) | Esineb 1 haiguses |
| MFAP5microfibril associated protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MYH11myosin heavy chain 11 | Sageli (30–79%) | Esineb 3 haiguses |
| MYLKmyosin light chain kinase | Sageli (30–79%) | Esineb 1 haiguses |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG1protein kinase cGMP-dependent 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD2SMAD family member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD3SMAD family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB3transforming growth factor beta 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBR1transforming growth factor beta receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFBR2transforming growth factor beta receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| THSD4thrombospondin type 1 domain containing 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTC1actin alpha cardiac muscle 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 33 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOCADfocadhesin | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA6GATA binding protein 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH6myosin heavy chain 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OTUD5OTU deubiquitinase 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SAA1serum amyloid A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX20T-box transcription factor 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TLL1tolloid like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VHLvon Hippel-Lindau tumor suppressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| LDB3LIM domain binding 3 | Harva (1–4%) | Esineb 1 haiguses |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Pole registreeritud | Esineb 1 haiguses |
| FKRPfukutin related protein | Pole registreeritud | Esineb 1 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Pole registreeritud | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Pole registreeritud | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Pole registreeritud | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Pole registreeritud | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Pole registreeritud | Esineb 1 haiguses |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Pole registreeritud | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Pole registreeritud | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Pole registreeritud | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Pole registreeritud | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 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.
Kitsamad tunnused
- Left ventricular systolic dysfunction64 geeni
- Left ventricular outflow tract obstruction9 geeni
- Left ventricular diastolic dysfunction7 geeni
- Elevated left ventricular end-diastolic diameter5 geeni
- Abnormal left ventricular ejection fraction
- Abnormal left ventricular end-diastolic volume
- Abnormal regional left ventricular contraction
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast