Egenskap
Dystonia
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Sammendrag
- Også kalt
- Dystonic movements
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Dystonia 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ADCY5adenylate cyclase 5 | Alltid | I 4 tilstander |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alltid | I 5 tilstander |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Alltid | I 2 tilstander |
| BCAP31B cell receptor associated protein 31 | Alltid | I 2 tilstander |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alltid | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Alltid | I 1 tilstand |
| COASYCoenzyme A synthase | Alltid | I 1 tilstand |
| COQ4coenzyme Q4 | Alltid | I 1 tilstand |
| COQ9coenzyme Q9 | Alltid | I 1 tilstand |
| CWF19L1CWF19 like cell cycle control factor 1 | Alltid | I 2 tilstander |
| DALRD3DALR anticodon binding domain containing 3 | Alltid | I 1 tilstand |
| DLDdihydrolipoamide dehydrogenase | Alltid | I 1 tilstand |
| DLG5discs large MAGUK scaffold protein 5 | Alltid | I 1 tilstand |
| DMXL2Dmx like 2 | Alltid | I 3 tilstander |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Alltid | I 2 tilstander |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Alltid | I 1 tilstand |
| FDXRferredoxin reductase | Alltid | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Alltid | I 2 tilstander |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 4 tilstander |
| GSX2GS homeobox 2 | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Alltid | I 1 tilstand |
| HTThuntingtin | Alltid | I 3 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alltid | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Alltid | I 2 tilstander |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Alltid | I 3 tilstander |
| KMT2Blysine methyltransferase 2B | Alltid | I 1 tilstand |
| LIPT1lipoyltransferase 1 | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
Vis 415 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Alltid | I 4 tilstander |
| MMADHCmetabolism of cobalamin associated D | Alltid | I 2 tilstander |
| MRE11MRE11 double strand break repair nuclease | Alltid | I 2 tilstander |
| NADK2NAD kinase 2, mitochondrial | Alltid | I 2 tilstander |
| NAV3neuron navigator 3 | Alltid | I 1 tilstand |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alltid | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Alltid | I 1 tilstand |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Alltid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alltid | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Alltid | I 2 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Alltid | I 2 tilstander |
| OGDHoxoglutarate dehydrogenase | Alltid | I 1 tilstand |
| PCDH12protocadherin 12 | Alltid | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Alltid | I 4 tilstander |
| PNPLA8patatin like domain 8, phospholipase A2 | Alltid | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Alltid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Alltid | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| POLR3BRNA polymerase III subunit B | Alltid | I 2 tilstander |
| POLR3KRNA polymerase III subunit K | Alltid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Alltid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Alltid | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Alltid | I 4 tilstander |
| SCP2sterol carrier protein 2 | Alltid | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 1 tilstand |
| SERAC1serine active site containing 1 | Alltid | I 2 tilstander |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Alltid | I 2 tilstander |
| SLC18A2solute carrier family 18 member A2 | Alltid | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 2 tilstander |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Alltid | I 2 tilstander |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Alltid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Alltid | I 4 tilstander |
| TGIF1TGFB induced factor homeobox 1 | Alltid | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Alltid | I 2 tilstander |
| TOR1Atorsin family 1 member A | Alltid | I 2 tilstander |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TREX1three prime repair exonuclease 1 | Alltid | I 2 tilstander |
| TTPAalpha tocopherol transfer protein | Alltid | I 2 tilstander |
| UBA5ubiquitin like modifier activating enzyme 5 | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Alltid | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Alltid | I 1 tilstand |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 3 tilstander |
| WDR45WD repeat domain 45 | Alltid | I 2 tilstander |
| ATXN3ataxin 3 | Svært ofte (80–99 %) | I 5 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Svært ofte (80–99 %) | I 3 tilstander |
| DRD2dopamine receptor D2 | Svært ofte (80–99 %) | I 1 tilstand |
| FTLferritin light chain | Svært ofte (80–99 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 3 tilstander |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 2 tilstander |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Svært ofte (80–99 %) | I 2 tilstander |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Svært ofte (80–99 %) | I 1 tilstand |
| KCTD17potassium channel tetramerization domain containing 17 | Svært ofte (80–99 %) | I 2 tilstander |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Svært ofte (80–99 %) | I 2 tilstander |
| MED27mediator complex subunit 27 | Svært ofte (80–99 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Svært ofte (80–99 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Svært ofte (80–99 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PNKDPNKD metallo-beta-lactamase domain containing | Svært ofte (80–99 %) | I 1 tilstand |
| PODXLpodocalyxin like | Svært ofte (80–99 %) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Svært ofte (80–99 %) | I 4 tilstander |
| PSAPprosaposin | Svært ofte (80–99 %) | I 4 tilstander |
| SGCEsarcoglycan epsilon | Svært ofte (80–99 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Svært ofte (80–99 %) | I 7 tilstander |
| SLC30A10solute carrier family 30 member 10 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC6A3solute carrier family 6 member 3 | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Svært ofte (80–99 %) | I 2 tilstander |
| THAP1THAP domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TMEM151Atransmembrane protein 151A | Svært ofte (80–99 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Svært ofte (80–99 %) | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Svært ofte (80–99 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Svært ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 3 tilstander |
| AFG2BAAA ATPase AFG2B | Ofte (30–79 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstander |
| AMPD2adenosine monophosphate deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ofte (30–79 %) | I 2 tilstander |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Ofte (30–79 %) | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ofte (30–79 %) | I 1 tilstand |
| APTXaprataxin | Ofte (30–79 %) | I 1 tilstand |
| AQP4aquaporin 4 | Ofte (30–79 %) | I 2 tilstander |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 4 tilstander |
| ATCAYATCAY kinesin light chain interacting caytaxin | Ofte (30–79 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Ofte (30–79 %) | I 4 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 5 tilstander |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| ATP7BATPase copper transporting beta | Ofte (30–79 %) | I 2 tilstander |
| ATXN1ataxin 1 | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 2 tilstander |
| ATXN8ataxin 8 | Ofte (30–79 %) | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ofte (30–79 %) | I 2 tilstander |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 4 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 3 tilstander |
| COXFA4cytochrome c oxidase associated subunit FA4 | Ofte (30–79 %) | I 1 tilstand |
| CPceruloplasmin | Ofte (30–79 %) | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 1 tilstand |
| DDCdopa decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| DLATdihydrolipoamide S-acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Ofte (30–79 %) | I 1 tilstand |
| ECM1extracellular matrix protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Ofte (30–79 %) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| FBLN1fibulin 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO7F-box protein 7 | Ofte (30–79 %) | I 2 tilstander |
| FTH1ferritin heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| GCDHglutaryl-CoA dehydrogenase | Ofte (30–79 %) | I 2 tilstander |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GPRC5BG protein-coupled receptor class C group 5 member B | Ofte (30–79 %) | I 2 tilstander |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Ofte (30–79 %) | I 2 tilstander |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstander |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Ofte (30–79 %) | I 2 tilstander |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 2 tilstander |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| KCNQ3potassium voltage-gated channel subfamily Q member 3 | Ofte (30–79 %) | I 1 tilstand |
| LIPT2lipoyl(octanoyl) transferase 2 | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 3 tilstander |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 2 tilstander |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MED23mediator complex subunit 23 | Ofte (30–79 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Ofte (30–79 %) | I 2 tilstander |
| MMUTmethylmalonyl-CoA mutase | Ofte (30–79 %) | I 2 tilstander |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 4 tilstander |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 2 tilstander |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 3 tilstander |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NIT1nitrilase 1 | Ofte (30–79 %) | I 1 tilstand |
| NTNG1netrin G1 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| OCLNoccludin | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Ofte (30–79 %) | I 1 tilstand |
| PMPCBpeptidase, mitochondrial processing subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Ofte (30–79 %) | I 3 tilstander |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 2 tilstander |
| PPIL1peptidylprolyl isomerase like 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB11BRAB11B, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RARS1arginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstander |
| REPS1RALBP1 associated Eps domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 3 tilstander |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 2 tilstander |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 2 tilstander |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 2 tilstander |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 2 tilstander |
| RRP12ribosomal RNA processing 12 homolog | Ofte (30–79 %) | I 2 tilstander |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A3solute carrier family 1 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC2A3solute carrier family 2 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC44A1solute carrier family 44 member 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SNAPC4small nuclear RNA activating complex polypeptide 4 | Ofte (30–79 %) | I 1 tilstand |
| SNCAsynuclein alpha | Ofte (30–79 %) | I 4 tilstander |
| SORDsorbitol dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstander |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SPTSSAserine palmitoyltransferase small subunit A | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| STN1STN1 subunit of CST complex | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 3 tilstander |
| TM2D3TM2 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| TNRtenascin R | Ofte (30–79 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Ofte (30–79 %) | I 1 tilstand |
| TSEN2tRNA splicing endonuclease subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| TTC19tetratricopeptide repeat domain 19 | Ofte (30–79 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 2 tilstander |
| UBTFupstream binding transcription factor | Ofte (30–79 %) | I 2 tilstander |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 1 tilstand |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Ofte (30–79 %) | I 1 tilstand |
| ZNF142zinc finger protein 142 | Ofte (30–79 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Noen ganger (5–29 %) | I 1 tilstand |
| ACSF3acyl-CoA synthetase family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ASLargininosuccinate lyase | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AUHAU RNA binding methylglutaconyl-CoA hydratase | Noen ganger (5–29 %) | I 2 tilstander |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| BCAS3BCAS3 microtubule associated cell migration factor | Noen ganger (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CDC40cell division cycle 40 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CLTCclathrin heavy chain | Noen ganger (5–29 %) | I 1 tilstand |
| CMPK2cytidine/uridine monophosphate kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A1collagen type IV alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COPB1coat protein complex I subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DCTN1dynactin subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Noen ganger (5–29 %) | I 1 tilstand |
| DNM1Ldynamin 1L | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FHfumarate hydratase | Noen ganger (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRMD5FERM domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| FXNfrataxin | Noen ganger (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GIGYF2GRB10 interacting GYF protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 3 tilstander |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Noen ganger (5–29 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Noen ganger (5–29 %) | I 2 tilstander |
| JPH3junctophilin 3 | Noen ganger (5–29 %) | I 2 tilstander |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MLC1modulator of VRAC current 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MOGSmannosyl-oligosaccharide glucosidase | Noen ganger (5–29 %) | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MTO1mitochondrial tRNA translation optimization 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MYORGmyogenesis regulating glycosidase | Noen ganger (5–29 %) | I 3 tilstander |
| NAXDNAD(P)HX dehydratase | Noen ganger (5–29 %) | I 2 tilstander |
| NBEAneurobeachin | Noen ganger (5–29 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| PARK7Parkinsonism associated deglycase | Noen ganger (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Noen ganger (5–29 %) | I 2 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 2 tilstander |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PGBD5piggyBac transposable element derived 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PPFIBP1PPFIB scaffold protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKNparkin RBR E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 2 tilstander |
| PTS6-pyruvoyltetrahydropterin synthase | Noen ganger (5–29 %) | I 2 tilstander |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNASET2ribonuclease T2 | Noen ganger (5–29 %) | I 1 tilstand |
| SETXsenataxin | Noen ganger (5–29 %) | I 2 tilstander |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC13A5solute carrier family 13 member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC39A8solute carrier family 39 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNORD118small nucleolar RNA, C/D box 118 | Noen ganger (5–29 %) | I 2 tilstander |
| SPOPspeckle type BTB/POZ protein | Noen ganger (5–29 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| SYT1synaptotagmin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TAF1TATA-box binding protein associated factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TANGO2transport and golgi organization 2 homolog | Noen ganger (5–29 %) | I 2 tilstander |
| TMEM163transmembrane protein 163 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM240transmembrane protein 240 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Noen ganger (5–29 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Noen ganger (5–29 %) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| VAMP2vesicle associated membrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Cvacuolar protein sorting 13 homolog C | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35VPS35 retromer complex component | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ARXaristaless related homeobox | Sjelden (1–4%) | I 2 tilstander |
| COQ8Acoenzyme Q8A | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Sjelden (1–4%) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjelden (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjelden (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjelden (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjelden (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjelden (1–4%) | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Sjelden (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjelden (1–4%) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registrert | I 1 tilstand |
| APOEapolipoprotein E | Ikke registrert | I 1 tilstand |
| ATMATM serine/threonine kinase | Ikke registrert | I 1 tilstand |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Ikke registrert | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ikke registrert | I 1 tilstand |
| CHRNA2cholinergic receptor nicotinic alpha 2 subunit | Ikke registrert | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ikke registrert | I 1 tilstand |
| CNTNAP1contactin associated protein 1 | Ikke registrert | I 1 tilstand |
| CTC1CST telomere replication complex component 1 | Ikke registrert | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registrert | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ikke registrert | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| ECHS1enoyl-CoA hydratase, short chain 1 | Ikke registrert | I 1 tilstand |
| FOXG1forkhead box G1 | Ikke registrert | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ikke registrert | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registrert | I 1 tilstand |
| GJC2gap junction protein gamma 2 | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| IREB2iron responsive element binding protein 2 | Ikke registrert | I 1 tilstand |
| MAT1Amethionine adenosyltransferase 1A | Ikke registrert | I 1 tilstand |
| MCOLN1mucolipin TRP cation channel 1 | Ikke registrert | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ikke registrert | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Ikke registrert | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Ikke registrert | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registrert | I 1 tilstand |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Ikke registrert | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registrert | I 1 tilstand |
| NPC1NPC intracellular cholesterol transporter 1 | Ikke registrert | I 1 tilstand |
| NPC2NPC intracellular cholesterol transporter 2 | Ikke registrert | I 1 tilstand |
| PCCApropionyl-CoA carboxylase subunit alpha | Ikke registrert | I 1 tilstand |
| PCCBpropionyl-CoA carboxylase subunit beta | Ikke registrert | I 1 tilstand |
| PDHXpyruvate dehydrogenase complex component X | Ikke registrert | I 1 tilstand |
| PSEN1presenilin 1 | Ikke registrert | I 1 tilstand |
| QDPRquinoid dihydropteridine reductase | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registrert | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registrert | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registrert | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ikke registrert | I 1 tilstand |
| TRIT1tRNA isopentenyltransferase 1 | Ikke registrert | I 1 tilstand |
| TSEN34tRNA splicing endonuclease subunit 34 | Ikke registrert | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registrert | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registrert | I 1 tilstand |
| VCPvalosin containing protein | Ikke registrert | I 1 tilstand |
| VPS13Avacuolar protein sorting 13 homolog A | Ikke registrert | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
Smalere egenskaper
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.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker