Požymis
Enlarged heart
Klinikinis pavadinimas: Cardiomegaly
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Santrauka
- Taip pat vadinama
- Increased heart size
- Kūno sistema
- Abnormality of the cardiovascular system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test150 genų susiję su Enlarged heart
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Enlarged heart. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Visada | 3 ligose |
| ALPK3alpha kinase 3 | Visada | 1 ligoje |
| APOA1apolipoprotein A1 | Visada | 1 ligoje |
| COX6B1cytochrome c oxidase subunit 6B1 | Visada | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Visada | 3 ligose |
| DAND5DAN domain BMP antagonist family member 5 | Visada | 1 ligoje |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Visada | 2 ligose |
| ESAMendothelial cell adhesion molecule | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 1 ligoje |
| GATBglutamyl-tRNA amidotransferase subunit B | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| LDB3LIM domain binding 3 | Visada | 1 ligoje |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Visada | 1 ligoje |
| MYBPC3myosin binding protein C3 | Visada | 1 ligoje |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Visada | 1 ligoje |
| NONOnon-POU domain containing octamer binding | Visada | 1 ligoje |
| NRAPnebulin related anchoring protein | Visada | 1 ligoje |
| RRAGCRas related GTP binding C | Visada | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Visada | 1 ligoje |
| SLC31A1solute carrier family 31 member 1 | Visada | 1 ligoje |
| STAT2signal transducer and activator of transcription 2 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| ABCC9ATP binding cassette subfamily C member 9 | Labai dažnai (80–99%) | 2 ligose |
| GAAalpha glucosidase | Labai dažnai (80–99%) | 2 ligose |
| HYMAIhydatidiform mole associated and imprinted | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Labai dažnai (80–99%) | 1 ligoje |
| PLAGL1PLAG1 like zinc finger 1 | Labai dažnai (80–99%) | 1 ligoje |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACADVLacyl-CoA dehydrogenase very long chain | Dažnai (30–79%) | 1 ligoje |
| ACTA2actin alpha 2, smooth muscle | Dažnai (30–79%) | 1 ligoje |
| ACTN2actinin alpha 2 | Dažnai (30–79%) | 1 ligoje |
| C1QBPcomplement C1q binding protein | Dažnai (30–79%) | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Dažnai (30–79%) | 1 ligoje |
| CLIC2CLIC family member 2 | Dažnai (30–79%) | 1 ligoje |
| CLXNcalaxin | Dažnai (30–79%) | 1 ligoje |
| DESdesmin | Dažnai (30–79%) | 1 ligoje |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Dažnai (30–79%) | 1 ligoje |
| ELNelastin | Dažnai (30–79%) | 2 ligose |
Rodyti dar 110 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FBN1fibrillin 1 | Dažnai (30–79%) | 1 ligoje |
| FHL1four and a half LIM domains 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FOXE3forkhead box E3 | Dažnai (30–79%) | 1 ligoje |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Dažnai (30–79%) | 1 ligoje |
| LOXlysyl oxidase | Dažnai (30–79%) | 1 ligoje |
| MAT2Amethionine adenosyltransferase 2A | Dažnai (30–79%) | 1 ligoje |
| MFAP5microfibril associated protein 5 | Dažnai (30–79%) | 1 ligoje |
| MTO1mitochondrial tRNA translation optimization 1 | Dažnai (30–79%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Dažnai (30–79%) | 2 ligose |
| MYLKmyosin light chain kinase | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| NAGAalpha-N-acetylgalactosaminidase | Dažnai (30–79%) | 1 ligoje |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Dažnai (30–79%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| NEXNnexilin F-actin binding protein | Dažnai (30–79%) | 1 ligoje |
| PLXND1plexin D1 | Dažnai (30–79%) | 1 ligoje |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Dažnai (30–79%) | 1 ligoje |
| PRKG1protein kinase cGMP-dependent 1 | Dažnai (30–79%) | 1 ligoje |
| PSMB9proteasome 20S subunit beta 9 | Dažnai (30–79%) | 1 ligoje |
| RBSNrabenosyn, RAB effector | Dažnai (30–79%) | 1 ligoje |
| SMAD2SMAD family member 2 | Dažnai (30–79%) | 1 ligoje |
| SMAD3SMAD family member 3 | Dažnai (30–79%) | 1 ligoje |
| SMAD4SMAD family member 4 | Dažnai (30–79%) | 1 ligoje |
| TGFB2transforming growth factor beta 2 | Dažnai (30–79%) | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Dažnai (30–79%) | 1 ligoje |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| THSD4thrombospondin type 1 domain containing 4 | Dažnai (30–79%) | 1 ligoje |
| TTRtransthyretin | Dažnai (30–79%) | 3 ligose |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| ACADMacyl-CoA dehydrogenase medium chain | Kartais (5–29%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BMP6bone morphogenetic protein 6 | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| DOHHdeoxyhypusine hydroxylase | Kartais (5–29%) | 1 ligoje |
| DSPdesmoplakin | Kartais (5–29%) | 1 ligoje |
| DYSFdysferlin | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Kartais (5–29%) | 2 ligose |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| HFEhomeostatic iron regulator | Kartais (5–29%) | 2 ligose |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 2 ligose |
| JUPjunction plakoglobin | Kartais (5–29%) | 2 ligose |
| KLHL40kelch like family member 40 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MOGSmannosyl-oligosaccharide glucosidase | Kartais (5–29%) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| OXCT13-oxoacid CoA-transferase 1 | Kartais (5–29%) | 1 ligoje |
| PGM1phosphoglucomutase 1 | Kartais (5–29%) | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Kartais (5–29%) | 1 ligoje |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Kartais (5–29%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TET3tet methylcytosine dioxygenase 3 | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| TRIM37tripartite motif containing 37 | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WDR37WD repeat domain 37 | Kartais (5–29%) | 1 ligoje |
| ZIC3Zic family zinc finger 3 | Kartais (5–29%) | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Retai (1–4 %) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Retai (1–4 %) | 1 ligoje |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| CHST3carbohydrate sulfotransferase 3 | Neužfiksuota | 1 ligoje |
| COX5Acytochrome c oxidase subunit 5A | Neužfiksuota | 1 ligoje |
| CPT1Acarnitine palmitoyltransferase 1A | Neužfiksuota | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Neužfiksuota | 2 ligose |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Neužfiksuota | 1 ligoje |
| HBBhemoglobin subunit beta | Neužfiksuota | 1 ligoje |
| HEXBhexosaminidase subunit beta | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| LAMP2lysosome associated membrane protein 2 | Neužfiksuota | 1 ligoje |
| NAGLUN-acetyl-alpha-glucosaminidase | Neužfiksuota | 1 ligoje |
| NEU1neuraminidase 1 | Neužfiksuota | 1 ligoje |
| PAM16presequence translocase associated motor 16 | Neužfiksuota | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Neužfiksuota | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Neužfiksuota | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC22A5solute carrier family 22 member 5 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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