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Egenskap
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.
Sammendrag
- Også kalt
- Increased heart size
- Kroppssystem
- Abnormality of the cardiovascular system
Enlarged heartHP:0001640
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Read the genes linked to Enlarged heart, and the rest of your genome, with one test.
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Få mitt Genome Test150 gener knyttet til Enlarged heart
Endringer i disse genene forårsaker sjeldne tilstander der Enlarged heart forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Alltid | I 3 tilstander |
| ALPK3alpha kinase 3 | Alltid | I 1 tilstand |
| APOA1apolipoprotein A1 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Alltid | I 3 tilstander |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Alltid | I 2 tilstander |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GATBglutamyl-tRNA amidotransferase subunit B | Alltid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| LDB3LIM domain binding 3 | Alltid | I 1 tilstand |
| LYNLYN proto-oncogene, Src family tyrosine kinase | Alltid | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Alltid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Alltid | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Alltid | I 1 tilstand |
| NRAPnebulin related anchoring protein | Alltid | I 1 tilstand |
| RRAGCRas related GTP binding C | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 1 tilstand |
| SLC31A1solute carrier family 31 member 1 | Alltid | I 1 tilstand |
| STAT2signal transducer and activator of transcription 2 | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Svært ofte (80–99 %) | I 2 tilstander |
| GAAalpha glucosidase | Svært ofte (80–99 %) | I 2 tilstander |
| HYMAIhydatidiform mole associated and imprinted | Svært ofte (80–99 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Svært ofte (80–99 %) | I 1 tilstand |
| PLAGL1PLAG1 like zinc finger 1 | Svært 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 tilstander |
Vis 110 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| 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 tilstander |
| 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 tilstander |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| ACADMacyl-CoA dehydrogenase medium chain | Noen ganger (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DOHHdeoxyhypusine hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DSPdesmoplakin | Noen ganger (5–29 %) | I 1 tilstand |
| DYSFdysferlin | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Noen ganger (5–29 %) | I 2 tilstander |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 2 tilstander |
| JUPjunction plakoglobin | Noen ganger (5–29 %) | I 2 tilstander |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Noen ganger (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| OXCT13-oxoacid CoA-transferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Noen ganger (5–29 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Noen ganger (5–29 %) | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Sjelden (1–4%) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Sjelden (1–4%) | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BMP2bone morphogenetic protein 2 | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ikke registrert | I 1 tilstand |
| CPT1Acarnitine palmitoyltransferase 1A | Ikke registrert | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ikke registrert | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registrert | I 1 tilstand |
| HBBhemoglobin subunit beta | Ikke registrert | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registrert | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registrert | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registrert | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registrert | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ikke registrert | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registrert | I 1 tilstand |
| NEU1neuraminidase 1 | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker