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Træk
Stretched and thinned heart muscle
Klinisk navn: Dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Resumé
- Også kaldet
- Cardiomyopathy, dilated, Congestive cardiomyopathy, DCM
- Kropssystem
- Abnormality of the cardiovascular system
Stretched and thinned heart muscleHP:0001644
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Bestil min Genome Test197 gener knyttet til Stretched and thinned heart muscle
Ændringer i disse gener forårsager sjældne tilstande, hvor Stretched and thinned heart muscle 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 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Altid | I 2 tilstande |
| ACTN2actinin alpha 2 | Altid | I 2 tilstande |
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| BAG5BAG cochaperone 5 | Altid | I 2 tilstande |
| BOLA3bolA family member 3 | Altid | I 2 tilstande |
| C10orf71chromosome 10 open reading frame 71 | Altid | I 1 tilstand |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Altid | I 2 tilstande |
| CRYABcrystallin alpha B | Altid | I 2 tilstande |
| CSRP3cysteine and glycine rich protein 3 | Altid | I 2 tilstande |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altid | I 2 tilstande |
| DSG2desmoglein 2 | Altid | I 2 tilstande |
| DSPdesmoplakin | Altid | I 4 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| EMDemerin | Altid | I 1 tilstand |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Altid | I 1 tilstand |
| FKTNfukutin | Altid | I 4 tilstande |
| FLIIFLII actin remodeling protein | Altid | I 1 tilstand |
| GATAD1GATA zinc finger domain containing 1 | Altid | I 2 tilstande |
| JPH2junctophilin 2 | Altid | I 2 tilstande |
| LAMA4laminin subunit alpha 4 | Altid | I 2 tilstande |
| LAMP2lysosome associated membrane protein 2 | Altid | I 2 tilstande |
| LDB3LIM domain binding 3 | Altid | I 3 tilstande |
| LMOD2leiomodin 2 | Altid | I 2 tilstande |
| MMABmetabolism of cobalamin associated B | Altid | I 1 tilstand |
| MYH6myosin heavy chain 6 | Altid | I 2 tilstande |
| MYPNmyopalladin | Altid | I 2 tilstande |
| MYZAPmyocardial zonula adherens protein | Altid | I 1 tilstand |
| NEXNnexilin F-actin binding protein | Altid | I 3 tilstande |
| NRAPnebulin related anchoring protein | Altid | I 2 tilstande |
| PLNphospholamban | Altid | I 2 tilstande |
| PPCSphosphopantothenoylcysteine synthetase | Altid | I 2 tilstande |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Altid | I 1 tilstand |
| PSEN1presenilin 1 | Altid | I 2 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Altid | I 2 tilstande |
| RNF220ring finger protein 220 | Altid | I 1 tilstand |
| RPL3Lribosomal protein L3 like | Altid | I 2 tilstande |
| RRAGCRas related GTP binding C | Altid | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Altid | I 3 tilstande |
| SDHDsuccinate dehydrogenase complex subunit D | Altid | I 1 tilstand |
Vis 157 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SGCAsarcoglycan alpha | Altid | I 1 tilstand |
| SLC6A6solute carrier family 6 member 6 | Altid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altid | I 3 tilstande |
| TNNI3troponin I3, cardiac type | Altid | I 3 tilstande |
| TTNtitin | Altid | I 3 tilstande |
| VCLvinculin | Altid | I 2 tilstande |
| VEZF1vascular endothelial zinc finger 1 | Altid | I 2 tilstande |
| ACTC1actin alpha cardiac muscle 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ANKRD1ankyrin repeat domain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Meget ofte (80–99 %) | I 2 tilstande |
| DESdesmin | Meget ofte (80–99 %) | I 3 tilstande |
| DMDdystrophin | Meget ofte (80–99 %) | I 4 tilstande |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Meget ofte (80–99 %) | I 2 tilstande |
| DOLKdolichol kinase | Meget ofte (80–99 %) | I 3 tilstande |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Meget ofte (80–99 %) | I 2 tilstande |
| FHL2four and a half LIM domains 2 | Meget ofte (80–99 %) | I 1 tilstand |
| FLNCfilamin C | Meget ofte (80–99 %) | I 1 tilstand |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Meget ofte (80–99 %) | I 1 tilstand |
| HAND2heart and neural crest derivatives expressed 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LMNAlamin A/C | Meget ofte (80–99 %) | I 11 tilstande |
| MYBPC3myosin binding protein C3 | Meget ofte (80–99 %) | I 2 tilstande |
| MYH7myosin heavy chain 7 | Meget ofte (80–99 %) | I 5 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 3 tilstande |
| PSEN2presenilin 2 | Meget ofte (80–99 %) | I 2 tilstande |
| RBM20RNA binding motif protein 20 | Meget ofte (80–99 %) | I 2 tilstande |
| RRAGDRas related GTP binding D | Meget ofte (80–99 %) | I 2 tilstande |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Meget ofte (80–99 %) | I 2 tilstande |
| SGCDsarcoglycan delta | Meget ofte (80–99 %) | I 2 tilstande |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| TCAPtitin-cap | Meget ofte (80–99 %) | I 1 tilstand |
| TMPOthymopoietin | Meget ofte (80–99 %) | I 1 tilstand |
| TNNC1troponin C1, slow skeletal and cardiac type | Meget ofte (80–99 %) | I 2 tilstande |
| TNNT2troponin T2, cardiac type | Meget ofte (80–99 %) | I 2 tilstande |
| TPM1tropomyosin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TXNRD2thioredoxin reductase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ACAD9acyl-CoA dehydrogenase family member 9 | Ofte (30–79 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstande |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 2 tilstande |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CASQ2calsequestrin 2 | Ofte (30–79 %) | I 1 tilstand |
| CHKBcholine kinase beta | Ofte (30–79 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Ofte (30–79 %) | I 1 tilstand |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HAMPhepcidin antimicrobial peptide | Ofte (30–79 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Ofte (30–79 %) | I 1 tilstand |
| HJVhemojuvelin BMP co-receptor | Ofte (30–79 %) | I 2 tilstande |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MLYCDmalonyl-CoA decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstande |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ofte (30–79 %) | I 2 tilstande |
| PGM1phosphoglucomutase 1 | Ofte (30–79 %) | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR2ryanodine receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Ofte (30–79 %) | I 1 tilstand |
| TRDNtriadin | Ofte (30–79 %) | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ofte (30–79 %) | I 1 tilstand |
| ACAD8acyl-CoA dehydrogenase family member 8 | Nogle gange (5–29 %) | I 2 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 2 tilstande |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Nogle gange (5–29 %) | I 2 tilstande |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Nogle gange (5–29 %) | I 2 tilstande |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 2 tilstande |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GTPBP3GTP binding protein 3, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Nogle gange (5–29 %) | I 2 tilstande |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Nogle gange (5–29 %) | I 2 tilstande |
| MLXMAX dimerization protein MLX | Nogle gange (5–29 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Nogle gange (5–29 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 2 tilstande |
| NAXDNAD(P)HX dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Nogle gange (5–29 %) | I 3 tilstande |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Nogle gange (5–29 %) | I 1 tilstand |
| SGCBsarcoglycan beta | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A6solute carrier family 5 member 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Nogle gange (5–29 %) | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 3 tilstande |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| ACADVLacyl-CoA dehydrogenase very long chain | Sjældent (1–4%) | I 1 tilstand |
| GATA5GATA binding protein 5 | Sjældent (1–4%) | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Sjældent (1–4%) | I 2 tilstande |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sjældent (1–4%) | I 1 tilstand |
| NUP107nucleoporin 107 | Sjældent (1–4%) | I 2 tilstande |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Sjældent (1–4%) | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Sjældent (1–4%) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ikke registreret | I 2 tilstande |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| JUPjunction plakoglobin | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| LIMS2LIM zinc finger domain containing 2 | Ikke registreret | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Ikke registreret | I 1 tilstand |
| TNNI3KTNNI3 interacting kinase | Ikke registreret | I 1 tilstand |
| TPM3tropomyosin 3 | 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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