Požymis
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.
Santrauka
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test141 genas susijęs su Parkinsonism
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Parkinsonism. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ATP6AP2ATPase H+ transporting accessory protein 2 | Visada | 2 ligose |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Visada | 1 ligoje |
| CSF1Rcolony stimulating factor 1 receptor | Visada | 1 ligoje |
| CST3cystatin C | Visada | 1 ligoje |
| DCTN1dynactin subunit 1 | Visada | 2 ligose |
| DNAJC13DnaJ heat shock protein family (Hsp40) member C13 | Visada | 1 ligoje |
| EIF4G1eukaryotic translation initiation factor 4 gamma 1 | Visada | 2 ligose |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Visada | 1 ligoje |
| FBXO7F-box protein 7 | Visada | 2 ligose |
| FMR1fragile X messenger ribonucleoprotein 1 | Visada | 2 ligose |
| GBA1glucosylceramidase beta 1 | Visada | 4 ligose |
| GIGYF2GRB10 interacting GYF protein 2 | Visada | 1 ligoje |
| LRRK2leucine rich repeat kinase 2 | Visada | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Visada | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Visada | 3 ligose |
| PLA2G6phospholipase A2 group VI | Visada | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Visada | 2 ligose |
| PRKNparkin RBR E3 ubiquitin protein ligase | Visada | 1 ligoje |
| PTRHD1peptidyl-tRNA hydrolase domain containing 1 | Visada | 1 ligoje |
| RAB32RAB32, member RAS oncogene family | Visada | 1 ligoje |
| RAB39BRAB39B, member RAS oncogene family | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Visada | 2 ligose |
| SLC9A6solute carrier family 9 member A6 | Visada | 1 ligoje |
| SNCAsynuclein alpha | Visada | 5 ligose |
| SYNJ1synaptojanin 1 | Visada | 1 ligoje |
| VPS35VPS35 retromer complex component | Visada | 2 ligose |
| APPamyloid beta precursor protein | Labai dažnai (80–99%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 4 ligose |
| COASYCoenzyme A synthase | Labai dažnai (80–99%) | 1 ligoje |
| PSEN1presenilin 1 | Labai dažnai (80–99%) | 3 ligose |
| PSEN2presenilin 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC6A3solute carrier family 6 member 3 | Labai dažnai (80–99%) | 2 ligose |
| SORL1sortilin related receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| TOMM40translocase of outer mitochondrial membrane 40 | Labai dažnai (80–99%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 2 ligose |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Labai dažnai (80–99%) | 2 ligose |
| ACBD6acyl-CoA binding domain containing 6 | Dažnai (30–79%) | 1 ligoje |
| AOPEPaminopeptidase O (putative) | Dažnai (30–79%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 101 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| C19orf12chromosome 19 open reading frame 12 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 2 ligose |
| COQ2coenzyme Q2, polyprenyltransferase | Dažnai (30–79%) | 3 ligose |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 2 ligose |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Dažnai (30–79%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Dažnai (30–79%) | 1 ligoje |
| GCH1GTP cyclohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| IMPDH2inosine monophosphate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| JAM2junctional adhesion molecule 2 | Dažnai (30–79%) | 2 ligose |
| MAPTmicrotubule associated protein tau | Dažnai (30–79%) | 7 ligose |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Dažnai (30–79%) | 2 ligose |
| PANK2pantothenate kinase 2 | Dažnai (30–79%) | 2 ligose |
| PCDH19protocadherin 19 | Dažnai (30–79%) | 1 ligoje |
| PPP2R2Bprotein phosphatase 2 regulatory subunit Bbeta | Dažnai (30–79%) | 2 ligose |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Dažnai (30–79%) | 1 ligoje |
| PRKRAprotein activator of interferon induced protein kinase EIF2AK2 | Dažnai (30–79%) | 2 ligose |
| PRNPprion protein (Kanno blood group) | Dažnai (30–79%) | 2 ligose |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Dažnai (30–79%) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Dažnai (30–79%) | 1 ligoje |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Dažnai (30–79%) | 1 ligoje |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 2 ligose |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Dažnai (30–79%) | 2 ligose |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TBPTATA-box binding protein | Dažnai (30–79%) | 3 ligose |
| THtyrosine hydroxylase | Dažnai (30–79%) | 2 ligose |
| TSPOAP1TSPO associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| VCPvalosin containing protein | Dažnai (30–79%) | 3 ligose |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 2 ligose |
| WDR45WD repeat domain 45 | Dažnai (30–79%) | 2 ligose |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Kartais (5–29%) | 2 ligose |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Kartais (5–29%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Kartais (5–29%) | 2 ligose |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| ATXN2ataxin 2 | Kartais (5–29%) | 3 ligose |
| ATXN3ataxin 3 | Kartais (5–29%) | 2 ligose |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CPceruloplasmin | Kartais (5–29%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC12DnaJ heat shock protein family (Hsp40) member C12 | Kartais (5–29%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Kartais (5–29%) | 1 ligoje |
| FTLferritin light chain | Kartais (5–29%) | 2 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| GRNgranulin precursor | Kartais (5–29%) | 2 ligose |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| JPH3junctophilin 3 | Kartais (5–29%) | 1 ligoje |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Kartais (5–29%) | 1 ligoje |
| KIF5Akinesin family member 5A | Kartais (5–29%) | 2 ligose |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Kartais (5–29%) | 2 ligose |
| MYORGmyogenesis regulating glycosidase | Kartais (5–29%) | 2 ligose |
| NOTCH3notch receptor 3 | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 2 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 2 ligose |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| RRP12ribosomal RNA processing 12 homolog | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Kartais (5–29%) | 1 ligoje |
| SLC20A2solute carrier family 20 member 2 | Kartais (5–29%) | 1 ligoje |
| SORDsorbitol dehydrogenase | Kartais (5–29%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Kartais (5–29%) | 2 ligose |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Kartais (5–29%) | 1 ligoje |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Kartais (5–29%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Kartais (5–29%) | 1 ligoje |
| TRMT2BtRNA methyltransferase 2B | Kartais (5–29%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Kartais (5–29%) | 1 ligoje |
| UBTFupstream binding transcription factor | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| XPR1xenotropic and polytropic retrovirus receptor 1 | Kartais (5–29%) | 2 ligose |
| ATN1atrophin 1 | Retai (1–4 %) | 1 ligoje |
| CATcatalase | Retai (1–4 %) | 1 ligoje |
| PCBD1pterin-4 alpha-carbinolamine dehydratase 1 | Retai (1–4 %) | 1 ligoje |
| SCARB2scavenger receptor class B member 2 | Retai (1–4 %) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Retai (1–4 %) | 1 ligoje |
| ADH1Calcohol dehydrogenase 1C (class I), gamma polypeptide | Neužfiksuota | 1 ligoje |
| APOEapolipoprotein E | Neužfiksuota | 1 ligoje |
| ATXN8OSATXN8 opposite strand lncRNA | Neužfiksuota | 1 ligoje |
| C9orf72C9orf72-SMCR8 complex subunit | Neužfiksuota | 1 ligoje |
| DNAJC5DnaJ heat shock protein family (Hsp40) member C5 | Neužfiksuota | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Neužfiksuota | 1 ligoje |
| MPOmyeloperoxidase | Neužfiksuota | 1 ligoje |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Neužfiksuota | 1 ligoje |
| PDE10Aphosphodiesterase 10A | Neužfiksuota | 1 ligoje |
| PINK1PTEN induced kinase 1 | Neužfiksuota | 1 ligoje |
| PLAUplasminogen activator, urokinase | Neužfiksuota | 1 ligoje |
| PTS6-pyruvoyltetrahydropterin synthase | Neužfiksuota | 1 ligoje |
| SLC30A10solute carrier family 30 member 10 | Neužfiksuota | 1 ligoje |
| SNCAIPsynuclein alpha interacting protein | Neužfiksuota | 1 ligoje |
| SNCBsynuclein beta | Neužfiksuota | 1 ligoje |
| TMEM240transmembrane protein 240 | Neužfiksuota | 1 ligoje |
| TNRtenascin R | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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