Træk
Parkinsonism
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Resumé
- Kropssystem
- Abnormality of the nervous system
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Bestil min Genome Test141 gener knyttet til Parkinsonism
Ændringer i disse gener forårsager sjældne tilstande, hvor Parkinsonism 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 |
|---|---|---|
| ATP6AP2ATPase H+ transporting accessory protein 2 | Altid | I 2 tilstande |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Altid | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Altid | I 1 tilstand |
| CST3cystatin C | Altid | I 1 tilstand |
| DCTN1dynactin subunit 1 | Altid | I 2 tilstande |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Altid | I 1 tilstand |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Altid | I 2 tilstande |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Altid | I 1 tilstand |
| FBXO7F-box protein 7 | Altid | I 2 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Altid | I 2 tilstande |
| GBA1glucosylceramidase beta 1 | Altid | I 4 tilstande |
| GIGYF2GRB10 interacting GYF protein 2 | Altid | I 1 tilstand |
| LRRK2leucine rich repeat kinase 2 | Altid | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Altid | I 3 tilstande |
| PLA2G6phospholipase A2 group VI | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 2 tilstande |
| PRKNparkin RBR E3 ubiquitin protein ligase | Altid | I 1 tilstand |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Altid | I 1 tilstand |
| RAB32RAB32, member RAS oncogene family | Altid | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SLC18A2solute carrier family 18 member A2 | Altid | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Altid | I 1 tilstand |
| SNCAsynuclein alpha | Altid | I 5 tilstande |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
| VPS35VPS35 retromer complex component | Altid | I 2 tilstande |
| APPamyloid beta precursor protein | Meget ofte (80–99 %) | I 2 tilstande |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 4 tilstande |
| COASYCoenzyme A synthase | Meget ofte (80–99 %) | I 1 tilstand |
| PSEN1presenilin 1 | Meget ofte (80–99 %) | I 3 tilstande |
| PSEN2presenilin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC6A3solute carrier family 6 member 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SORL1sortilin related receptor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TOMM40translocase of outer mitochondrial membrane 40 | Meget ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Meget ofte (80–99 %) | I 2 tilstande |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Meget ofte (80–99 %) | I 2 tilstande |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| AOPEPaminopeptidase O (putative) | Ofte (30–79 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 2 tilstande |
Vis 101 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| C19orf12chromosome 19 open reading frame 12 | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 2 tilstande |
| COQ2coenzyme Q2, polyprenyltransferase | Ofte (30–79 %) | I 3 tilstande |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 1 tilstand |
| GCH1GTP cyclohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| IMPDH2inosine monophosphate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Ofte (30–79 %) | I 2 tilstande |
| MAPTmicrotubule associated protein tau | Ofte (30–79 %) | I 7 tilstande |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Ofte (30–79 %) | I 2 tilstande |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 1 tilstand |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Ofte (30–79 %) | I 2 tilstande |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Ofte (30–79 %) | I 2 tilstande |
| PRNPprion protein (Kanno blood group) | Ofte (30–79 %) | I 2 tilstande |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstande |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| STUB1STIP1 homology and U-box containing protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBPTATA-box binding protein | Ofte (30–79 %) | I 3 tilstande |
| THtyrosine hydroxylase | Ofte (30–79 %) | I 2 tilstande |
| TSPOAP1TSPO associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 3 tilstande |
| VPS13Avacuolar protein sorting 13 homolog A | Ofte (30–79 %) | I 2 tilstande |
| WDR45WD repeat domain 45 | Ofte (30–79 %) | I 2 tilstande |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Nogle gange (5–29 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN2ataxin 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ATXN3ataxin 3 | Nogle gange (5–29 %) | I 2 tilstande |
| CBScystathionine beta-synthase | Nogle gange (5–29 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CPceruloplasmin | Nogle gange (5–29 %) | I 1 tilstand |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FTLferritin light chain | Nogle gange (5–29 %) | I 2 tilstande |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| GRNgranulin precursor | Nogle gange (5–29 %) | I 2 tilstande |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| JPH3junctophilin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF5Akinesin family member 5A | Nogle gange (5–29 %) | I 2 tilstande |
| LYSTlysosomal trafficking regulator | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MYORGmyogenesis regulating glycosidase | Nogle gange (5–29 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PDGFBplatelet derived growth factor subunit B | Nogle gange (5–29 %) | I 2 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RRP12ribosomal RNA processing 12 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC20A2solute carrier family 20 member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nogle gange (5–29 %) | I 2 tilstande |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM106Btransmembrane protein 106B | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ATN1atrophin 1 | Sjældent (1–4%) | I 1 tilstand |
| CATcatalase | Sjældent (1–4%) | I 1 tilstand |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Sjældent (1–4%) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Sjældent (1–4%) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Sjældent (1–4%) | I 1 tilstand |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Ikke registreret | I 1 tilstand |
| APOEapolipoprotein E | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 1 tilstand |
| C9orf72C9orf72-SMCR8 complex subunit | Ikke registreret | I 1 tilstand |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Ikke registreret | I 1 tilstand |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Ikke registreret | I 1 tilstand |
| MPOmyeloperoxidase | Ikke registreret | I 1 tilstand |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Ikke registreret | I 1 tilstand |
| PDE10Aphosphodiesterase 10A | Ikke registreret | I 1 tilstand |
| PINK1PTEN induced kinase 1 | Ikke registreret | I 1 tilstand |
| PLAUplasminogen activator, urokinase | Ikke registreret | I 1 tilstand |
| PTS6-pyruvoyltetrahydropterin synthase | Ikke registreret | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ikke registreret | I 1 tilstand |
| SNCAIPsynuclein alpha interacting protein | Ikke registreret | I 1 tilstand |
| SNCBsynuclein beta | Ikke registreret | I 1 tilstand |
| TMEM240transmembrane protein 240 | Ikke registreret | I 1 tilstand |
| TNRtenascin R | 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.
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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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger