Træk
Enlarged heart
Klinisk navn: 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.
Resumé
- Også kaldet
- Increased heart size
- Kropssystem
- Abnormality of the cardiovascular system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test150 gener knyttet til Enlarged heart
Ændringer i disse gener forårsager sjældne tilstande, hvor Enlarged heart ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Altid | I 3 tilstande |
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| APOA1apolipoprotein A1 | Altid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Altid | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Altid | I 3 tilstande |
| DAND5DAN domain BMP antagonist family member 5 | Altid | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Altid | I 2 tilstande |
| ESAMendothelial cell adhesion molecule | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| GATBglutamyl-tRNA amidotransferase subunit B | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| LDB3LIM domain binding 3 | Altid | I 1 tilstand |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Altid | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Altid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Altid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Altid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Altid | I 1 tilstand |
| RRAGCRas related GTP binding C | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Altid | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Meget ofte (80–99 %) | I 2 tilstande |
| GAAalpha glucosidase | Meget ofte (80–99 %) | I 2 tilstande |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Meget ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Ofte (30–79 %) | I 1 tilstand |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 1 tilstand |
| ACTN2actinin alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| C1QBPcomplement C1q binding protein | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Ofte (30–79 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CLXNcalaxin | Ofte (30–79 %) | I 1 tilstand |
| DESdesmin | Ofte (30–79 %) | I 1 tilstand |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 2 tilstande |
Vis 110 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| FBN1fibrillin 1 | Ofte (30–79 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FOXE3forkhead box E3 | Ofte (30–79 %) | I 1 tilstand |
| HEY2hes related family bHLH transcription factor with YRPW motif 2 | Ofte (30–79 %) | I 1 tilstand |
| LOXlysyl oxidase | Ofte (30–79 %) | I 1 tilstand |
| MAT2Amethionine adenosyltransferase 2A | Ofte (30–79 %) | I 1 tilstand |
| MFAP5microfibril associated protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Ofte (30–79 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Ofte (30–79 %) | I 2 tilstande |
| MYLKmyosin light chain kinase | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 1 tilstand |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Ofte (30–79 %) | I 1 tilstand |
| PLXND1plexin D1 | Ofte (30–79 %) | I 1 tilstand |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| PRKG1protein kinase cGMP-dependent 1 | Ofte (30–79 %) | I 1 tilstand |
| PSMB9proteasome 20S subunit beta 9 | Ofte (30–79 %) | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Ofte (30–79 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Ofte (30–79 %) | I 1 tilstand |
| TGFB2transforming growth factor beta 2 | Ofte (30–79 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| THSD4thrombospondin type 1 domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| TTRtransthyretin | Ofte (30–79 %) | I 3 tilstande |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Nogle gange (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Nogle gange (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Nogle gange (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Nogle gange (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Nogle gange (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Nogle gange (5–29 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 2 tilstande |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 2 tilstande |
| JUPjunction plakoglobin | Nogle gange (5–29 %) | I 2 tilstande |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Nogle gange (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| OXCT13-oxoacid CoA-transferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Nogle gange (5–29 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Nogle gange (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Nogle gange (5–29 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Nogle gange (5–29 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Sjældent (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjældent (1–4%) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ikke registreret | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registreret | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registreret | I 2 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| HBBhemoglobin subunit beta | Ikke registreret | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ikke registreret | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registreret | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registreret | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registreret | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registreret | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registreret | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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