Piirre
Stretched and thinned heart muscle
Kliininen nimi: 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.
Yhteenveto
- Tunnetaan myös nimellä
- Cardiomyopathy, dilated, Congestive cardiomyopathy, DCM
- Elimistön järjestelmä
- Abnormality of the cardiovascular system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test197 geeniä, jotka liittyvät piirteeseen Stretched and thinned heart muscle
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Stretched and thinned heart muscle esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCC6ATP binding cassette subfamily C member 6 | Aina | 1 sairaudessa |
| ABCC9ATP binding cassette subfamily C member 9 | Aina | 2 sairaudessa |
| ACTN2actinin alpha 2 | Aina | 2 sairaudessa |
| ALPK3alpha kinase 3 | Aina | 1 sairaudessa |
| BAG5BAG cochaperone 5 | Aina | 2 sairaudessa |
| BOLA3bolA family member 3 | Aina | 2 sairaudessa |
| C10orf71chromosome 10 open reading frame 71 | Aina | 1 sairaudessa |
| CAP2cyclase associated actin cytoskeleton regulatory protein 2 | Aina | 2 sairaudessa |
| CRYABcrystallin alpha B | Aina | 2 sairaudessa |
| CSRP3cysteine and glycine rich protein 3 | Aina | 2 sairaudessa |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Aina | 2 sairaudessa |
| DSG2desmoglein 2 | Aina | 2 sairaudessa |
| DSPdesmoplakin | Aina | 4 sairaudessa |
| DSTdystonin | Aina | 1 sairaudessa |
| EMDemerin | Aina | 1 sairaudessa |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Aina | 1 sairaudessa |
| FKTNfukutin | Aina | 4 sairaudessa |
| FLIIFLII actin remodeling protein | Aina | 1 sairaudessa |
| GATAD1GATA zinc finger domain containing 1 | Aina | 2 sairaudessa |
| JPH2junctophilin 2 | Aina | 2 sairaudessa |
| LAMA4laminin subunit alpha 4 | Aina | 2 sairaudessa |
| LAMP2lysosome associated membrane protein 2 | Aina | 2 sairaudessa |
| LDB3LIM domain binding 3 | Aina | 3 sairaudessa |
| LMOD2leiomodin 2 | Aina | 2 sairaudessa |
| MMABmetabolism of cobalamin associated B | Aina | 1 sairaudessa |
| MYH6myosin heavy chain 6 | Aina | 2 sairaudessa |
| MYPNmyopalladin | Aina | 2 sairaudessa |
| MYZAPmyocardial zonula adherens protein | Aina | 1 sairaudessa |
| NEXNnexilin F-actin binding protein | Aina | 3 sairaudessa |
| NRAPnebulin related anchoring protein | Aina | 2 sairaudessa |
| PLNphospholamban | Aina | 2 sairaudessa |
| PPCSphosphopantothenoylcysteine synthetase | Aina | 2 sairaudessa |
| PPP1R13Lprotein phosphatase 1 regulatory subunit 13 like | Aina | 1 sairaudessa |
| PSEN1presenilin 1 | Aina | 2 sairaudessa |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Aina | 2 sairaudessa |
| RNF220ring finger protein 220 | Aina | 1 sairaudessa |
| RPL3Lribosomal protein L3 like | Aina | 2 sairaudessa |
| RRAGCRas related GTP binding C | Aina | 1 sairaudessa |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Aina | 3 sairaudessa |
| SDHDsuccinate dehydrogenase complex subunit D | Aina | 1 sairaudessa |
Näytä 157 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| SGCAsarcoglycan alpha | Aina | 1 sairaudessa |
| SLC6A6solute carrier family 6 member 6 | Aina | 1 sairaudessa |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Aina | 3 sairaudessa |
| TNNI3troponin I3, cardiac type | Aina | 3 sairaudessa |
| TTNtitin | Aina | 3 sairaudessa |
| VCLvinculin | Aina | 2 sairaudessa |
| VEZF1vascular endothelial zinc finger 1 | Aina | 2 sairaudessa |
| ACTC1actin alpha cardiac muscle 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| ANKRD1ankyrin repeat domain 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BAG3BAG cochaperone 3 | Hyvin usein (80–99%) | 2 sairaudessa |
| DESdesmin | Hyvin usein (80–99%) | 3 sairaudessa |
| DMDdystrophin | Hyvin usein (80–99%) | 4 sairaudessa |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Hyvin usein (80–99%) | 2 sairaudessa |
| DOLKdolichol kinase | Hyvin usein (80–99%) | 3 sairaudessa |
| EYA4EYA transcriptional coactivator and phosphatase 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| FHL2four and a half LIM domains 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| FLNCfilamin C | Hyvin usein (80–99%) | 1 sairaudessa |
| GET3guided entry of tail-anchored proteins factor 3, ATPase | Hyvin usein (80–99%) | 1 sairaudessa |
| HAND2heart and neural crest derivatives expressed 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| LMNAlamin A/C | Hyvin usein (80–99%) | 11 sairaudessa |
| MYBPC3myosin binding protein C3 | Hyvin usein (80–99%) | 2 sairaudessa |
| MYH7myosin heavy chain 7 | Hyvin usein (80–99%) | 5 sairaudessa |
| PRDM16PR/SET domain 16 | Hyvin usein (80–99%) | 3 sairaudessa |
| PSEN2presenilin 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| RBM20RNA binding motif protein 20 | Hyvin usein (80–99%) | 2 sairaudessa |
| RRAGDRas related GTP binding D | Hyvin usein (80–99%) | 2 sairaudessa |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Hyvin usein (80–99%) | 2 sairaudessa |
| SGCDsarcoglycan delta | Hyvin usein (80–99%) | 2 sairaudessa |
| TAF1ATATA-box binding protein associated factor, RNA polymerase I subunit A | Hyvin usein (80–99%) | 1 sairaudessa |
| TCAPtitin-cap | Hyvin usein (80–99%) | 1 sairaudessa |
| TMPOthymopoietin | Hyvin usein (80–99%) | 1 sairaudessa |
| TNNC1troponin C1, slow skeletal and cardiac type | Hyvin usein (80–99%) | 2 sairaudessa |
| TNNT2troponin T2, cardiac type | Hyvin usein (80–99%) | 2 sairaudessa |
| TPM1tropomyosin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TXNRD2thioredoxin reductase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| ACAD9acyl-CoA dehydrogenase family member 9 | Usein (30–79%) | 2 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Usein (30–79%) | 2 sairaudessa |
| ATP5F1AATP synthase F1 subunit alpha | Usein (30–79%) | 1 sairaudessa |
| ATP5F1DATP synthase F1 subunit delta | Usein (30–79%) | 2 sairaudessa |
| ATP5F1EATP synthase F1 subunit epsilon | Usein (30–79%) | 1 sairaudessa |
| ATP5MKATP synthase membrane subunit k | Usein (30–79%) | 1 sairaudessa |
| ATP5POATP synthase peripheral stalk subunit OSCP | Usein (30–79%) | 1 sairaudessa |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Usein (30–79%) | 1 sairaudessa |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Usein (30–79%) | 1 sairaudessa |
| CASQ2calsequestrin 2 | Usein (30–79%) | 1 sairaudessa |
| CHKBcholine kinase beta | Usein (30–79%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Usein (30–79%) | 1 sairaudessa |
| DEF6DEF6 guanine nucleotide exchange factor | Usein (30–79%) | 1 sairaudessa |
| FHL1four and a half LIM domains 1 | Usein (30–79%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Usein (30–79%) | 1 sairaudessa |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Usein (30–79%) | 1 sairaudessa |
| HAMPhepcidin antimicrobial peptide | Usein (30–79%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Usein (30–79%) | 1 sairaudessa |
| HJVhemojuvelin BMP co-receptor | Usein (30–79%) | 2 sairaudessa |
| LRP12LDL receptor related protein 12 | Usein (30–79%) | 1 sairaudessa |
| MGME1mitochondrial genome maintenance exonuclease 1 | Usein (30–79%) | 2 sairaudessa |
| MLYCDmalonyl-CoA decarboxylase | Usein (30–79%) | 1 sairaudessa |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Usein (30–79%) | 2 sairaudessa |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Usein (30–79%) | 1 sairaudessa |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Usein (30–79%) | 2 sairaudessa |
| MYL2myosin light chain 2 | Usein (30–79%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Usein (30–79%) | 2 sairaudessa |
| PGM1phosphoglucomutase 1 | Usein (30–79%) | 1 sairaudessa |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Usein (30–79%) | 1 sairaudessa |
| RYR2ryanodine receptor 2 | Usein (30–79%) | 1 sairaudessa |
| SPEGstriated muscle enriched protein kinase | Usein (30–79%) | 1 sairaudessa |
| TOP3ADNA topoisomerase III alpha | Usein (30–79%) | 1 sairaudessa |
| TRDNtriadin | Usein (30–79%) | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Usein (30–79%) | 1 sairaudessa |
| ACAD8acyl-CoA dehydrogenase family member 8 | Joskus (5–29%) | 2 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Joskus (5–29%) | 2 sairaudessa |
| ADA2adenosine deaminase 2 | Joskus (5–29%) | 1 sairaudessa |
| ADCY5adenylate cyclase 5 | Joskus (5–29%) | 2 sairaudessa |
| ANKRD11ankyrin repeat domain 11 | Joskus (5–29%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Joskus (5–29%) | 1 sairaudessa |
| CASZ1castor zinc finger 1 | Joskus (5–29%) | 1 sairaudessa |
| COL7A1collagen type VII alpha 1 chain | Joskus (5–29%) | 2 sairaudessa |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Joskus (5–29%) | 1 sairaudessa |
| FKRPfukutin related protein | Joskus (5–29%) | 2 sairaudessa |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Joskus (5–29%) | 1 sairaudessa |
| GTPBP3GTP binding protein 3, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| HBBhemoglobin subunit beta | Joskus (5–29%) | 2 sairaudessa |
| HLA-Bmajor histocompatibility complex, class I, B | Joskus (5–29%) | 1 sairaudessa |
| HSPG2heparan sulfate proteoglycan 2 | Joskus (5–29%) | 1 sairaudessa |
| IL12Binterleukin 12B | Joskus (5–29%) | 1 sairaudessa |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Joskus (5–29%) | 1 sairaudessa |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Joskus (5–29%) | 1 sairaudessa |
| KLHL40kelch like family member 40 | Joskus (5–29%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 1 sairaudessa |
| LAMA3laminin subunit alpha 3 | Joskus (5–29%) | 1 sairaudessa |
| LAMB3laminin subunit beta 3 | Joskus (5–29%) | 1 sairaudessa |
| LAMC2laminin subunit gamma 2 | Joskus (5–29%) | 1 sairaudessa |
| LMOD3leiomodin 3 | Joskus (5–29%) | 1 sairaudessa |
| LUZP1leucine zipper protein 1 | Joskus (5–29%) | 1 sairaudessa |
| MEFVMEFV innate immunity regulator, pyrin | Joskus (5–29%) | 2 sairaudessa |
| MLXMAX dimerization protein MLX | Joskus (5–29%) | 1 sairaudessa |
| MMACHCmetabolism of cobalamin associated C | Joskus (5–29%) | 1 sairaudessa |
| MMP1matrix metallopeptidase 1 | Joskus (5–29%) | 1 sairaudessa |
| MMP23Bmatrix metallopeptidase 23B | Joskus (5–29%) | 1 sairaudessa |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Joskus (5–29%) | 1 sairaudessa |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Joskus (5–29%) | 1 sairaudessa |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Joskus (5–29%) | 1 sairaudessa |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Joskus (5–29%) | 2 sairaudessa |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Joskus (5–29%) | 2 sairaudessa |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Joskus (5–29%) | 2 sairaudessa |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Joskus (5–29%) | 2 sairaudessa |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Joskus (5–29%) | 1 sairaudessa |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Joskus (5–29%) | 1 sairaudessa |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Joskus (5–29%) | 2 sairaudessa |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Joskus (5–29%) | 1 sairaudessa |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Joskus (5–29%) | 1 sairaudessa |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Joskus (5–29%) | 1 sairaudessa |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Joskus (5–29%) | 1 sairaudessa |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Joskus (5–29%) | 2 sairaudessa |
| NAXDNAD(P)HX dehydratase | Joskus (5–29%) | 1 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 1 sairaudessa |
| PDPNpodoplanin | Joskus (5–29%) | 1 sairaudessa |
| POLGDNA polymerase gamma, catalytic subunit | Joskus (5–29%) | 3 sairaudessa |
| POLG2DNA polymerase gamma 2, accessory subunit | Joskus (5–29%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Joskus (5–29%) | 1 sairaudessa |
| PRKCZprotein kinase C zeta | Joskus (5–29%) | 1 sairaudessa |
| REREarginine-glutamic acid dipeptide repeats | Joskus (5–29%) | 1 sairaudessa |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Joskus (5–29%) | 1 sairaudessa |
| SGCBsarcoglycan beta | Joskus (5–29%) | 1 sairaudessa |
| SKISKI proto-oncogene | Joskus (5–29%) | 1 sairaudessa |
| SLC25A4solute carrier family 25 member 4 | Joskus (5–29%) | 1 sairaudessa |
| SLC2A10solute carrier family 2 member 10 | Joskus (5–29%) | 1 sairaudessa |
| SLC5A6solute carrier family 5 member 6 | Joskus (5–29%) | 1 sairaudessa |
| SPENspen family transcriptional repressor | Joskus (5–29%) | 1 sairaudessa |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Joskus (5–29%) | 1 sairaudessa |
| TKFCtriokinase and FMN cyclase | Joskus (5–29%) | 1 sairaudessa |
| TMEM43transmembrane protein 43 | Joskus (5–29%) | 1 sairaudessa |
| TSFMTs translation elongation factor, mitochondrial | Joskus (5–29%) | 1 sairaudessa |
| TWNKtwinkle mtDNA helicase | Joskus (5–29%) | 3 sairaudessa |
| UBE4Bubiquitination factor E4B | Joskus (5–29%) | 1 sairaudessa |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Joskus (5–29%) | 1 sairaudessa |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Joskus (5–29%) | 1 sairaudessa |
| ACADVLacyl-CoA dehydrogenase very long chain | Harvinainen (1–4 %) | 1 sairaudessa |
| GATA5GATA binding protein 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| HADHhydroxyacyl-CoA dehydrogenase | Harvinainen (1–4 %) | 2 sairaudessa |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Harvinainen (1–4 %) | 1 sairaudessa |
| NUP107nucleoporin 107 | Harvinainen (1–4 %) | 2 sairaudessa |
| PTPN6protein tyrosine phosphatase non-receptor type 6 | Harvinainen (1–4 %) | 1 sairaudessa |
| VPS13Avacuolar protein sorting 13 homolog A | Harvinainen (1–4 %) | 1 sairaudessa |
| CPT2carnitine palmitoyltransferase 2 | Ei kirjattu | 2 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Ei kirjattu | 1 sairaudessa |
| GLB1galactosidase beta 1 | Ei kirjattu | 1 sairaudessa |
| JUPjunction plakoglobin | Ei kirjattu | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Ei kirjattu | 1 sairaudessa |
| LIMS2LIM zinc finger domain containing 2 | Ei kirjattu | 1 sairaudessa |
| TERTtelomerase reverse transcriptase | Ei kirjattu | 1 sairaudessa |
| TNNI3KTNNI3 interacting kinase | Ei kirjattu | 1 sairaudessa |
| TPM3tropomyosin 3 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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