Požymis
Brain degeneration
Klinikinis pavadinimas: Brain atrophy
Partial or complete wasting (loss) of brain tissue that was once present.
Santrauka
- Taip pat vadinama
- Brain wasting
- Kūno sistema
- Abnormality of the nervous system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Brain degeneration, and the rest of your genome, with one test.
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Įsigyti savo Genome Test202 genų susiję su Brain degeneration
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Brain degeneration. 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 |
|---|---|---|
| ATP5POATP synthase peripheral stalk subunit OSCP | Visada | 1 ligoje |
| CBScystathionine beta-synthase | Visada | 1 ligoje |
| COX11cytochrome c oxidase copper chaperone COX11 | Visada | 1 ligoje |
| COX8Acytochrome c oxidase subunit 8A | Visada | 1 ligoje |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Visada | 1 ligoje |
| FBXO28F-box protein 28 | Visada | 2 ligose |
| GLULglutamate-ammonia ligase | Visada | 1 ligoje |
| GOLGA2golgin A2 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HTRA1HtrA serine peptidase 1 | Visada | 1 ligoje |
| INTS11integrator complex subunit 11 | Visada | 1 ligoje |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Visada | 1 ligoje |
| LRP12LDL receptor related protein 12 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 2 ligose |
| MRAPmelanocortin 2 receptor accessory protein | Visada | 1 ligoje |
| MYORGmyogenesis regulating glycosidase | Visada | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Visada | 1 ligoje |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Visada | 1 ligoje |
| NECAP1NECAP endocytosis associated 1 | Visada | 2 ligose |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Visada | 1 ligoje |
| NOTCH3notch receptor 3 | Visada | 2 ligose |
| NUP133nucleoporin 133 | Visada | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Visada | 1 ligoje |
| RFXANKregulatory factor X associated ankyrin containing protein | Visada | 1 ligoje |
| RFXAPregulatory factor X associated protein | Visada | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Visada | 1 ligoje |
| SCO1synthesis of cytochrome C oxidase 1 | Visada | 1 ligoje |
| VCPvalosin containing protein | Visada | 2 ligose |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Visada | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Labai dažnai (80–99%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Labai dažnai (80–99%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
| GRNgranulin precursor | Labai dažnai (80–99%) | 1 ligoje |
| MAPTmicrotubule associated protein tau | Labai dažnai (80–99%) | 1 ligoje |
| PSEN1presenilin 1 | Labai dažnai (80–99%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM106Btransmembrane protein 106B | Labai dažnai (80–99%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 162 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ZNF335zinc finger protein 335 | Labai dažnai (80–99%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Dažnai (30–79%) | 1 ligoje |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Dažnai (30–79%) | 1 ligoje |
| BORCS5BLOC-1 related complex subunit 5 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COX16cytochrome c oxidase assembly factor COX16 | Dažnai (30–79%) | 1 ligoje |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Dažnai (30–79%) | 1 ligoje |
| DNM1dynamin 1 | Dažnai (30–79%) | 2 ligose |
| ECHS1enoyl-CoA hydratase, short chain 1 | Dažnai (30–79%) | 1 ligoje |
| ELOVL4ELOVL fatty acid elongase 4 | Dažnai (30–79%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Dažnai (30–79%) | 2 ligose |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Dažnai (30–79%) | 1 ligoje |
| HID1HID1 domain containing | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Dažnai (30–79%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Dažnai (30–79%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Dažnai (30–79%) | 1 ligoje |
| MED11mediator complex subunit 11 | Dažnai (30–79%) | 1 ligoje |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Dažnai (30–79%) | 1 ligoje |
| NKX6-2NK6 homeobox 2 | Dažnai (30–79%) | 1 ligoje |
| NTNG2netrin G2 | Dažnai (30–79%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Dažnai (30–79%) | 1 ligoje |
| PODXLpodocalyxin like | Dažnai (30–79%) | 1 ligoje |
| PURApurine rich element binding protein A | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| RBMXRNA binding motif protein X-linked | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Dažnai (30–79%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Dažnai (30–79%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Dažnai (30–79%) | 1 ligoje |
| SERAC1serine active site containing 1 | Dažnai (30–79%) | 1 ligoje |
| SLC16A2solute carrier family 16 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Dažnai (30–79%) | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Dažnai (30–79%) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Dažnai (30–79%) | 2 ligose |
| SYNJ1synaptojanin 1 | Dažnai (30–79%) | 2 ligose |
| TPRKBTP53RK binding protein | Dažnai (30–79%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Dažnai (30–79%) | 1 ligoje |
| TRMT5tRNA methyltransferase 5 | Dažnai (30–79%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Dažnai (30–79%) | 2 ligose |
| WDR73WD repeat domain 73 | Dažnai (30–79%) | 1 ligoje |
| ZNF592zinc finger protein 592 | Dažnai (30–79%) | 1 ligoje |
| ZNF668zinc finger protein 668 | Dažnai (30–79%) | 1 ligoje |
| AARS1alanyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| ACTL6Bactin like 6B | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 2 ligose |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Kartais (5–29%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Kartais (5–29%) | 1 ligoje |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| ATP6V1AATPase H+ transporting V1 subunit A | Kartais (5–29%) | 1 ligoje |
| AXIN1axin 1 | Kartais (5–29%) | 1 ligoje |
| BCAP31B cell receptor associated protein 31 | Kartais (5–29%) | 1 ligoje |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Kartais (5–29%) | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Kartais (5–29%) | 1 ligoje |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Kartais (5–29%) | 1 ligoje |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Kartais (5–29%) | 1 ligoje |
| CDK19cyclin dependent kinase 19 | Kartais (5–29%) | 1 ligoje |
| CELF2CUGBP Elav-like family member 2 | Kartais (5–29%) | 1 ligoje |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Kartais (5–29%) | 1 ligoje |
| DALRD3DALR anticodon binding domain containing 3 | Kartais (5–29%) | 1 ligoje |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Kartais (5–29%) | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| DIAPH1diaphanous related formin 1 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DPH5diphthamide biosynthesis 5 | Kartais (5–29%) | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Kartais (5–29%) | 1 ligoje |
| EPM2AEPM2A glucan phosphatase, laforin | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FBXO22F-box protein 22 | Kartais (5–29%) | 1 ligoje |
| FGF12fibroblast growth factor 12 | Kartais (5–29%) | 1 ligoje |
| FOXG1forkhead box G1 | Kartais (5–29%) | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Kartais (5–29%) | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Kartais (5–29%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Kartais (5–29%) | 1 ligoje |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Kartais (5–29%) | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Kartais (5–29%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Kartais (5–29%) | 1 ligoje |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Kartais (5–29%) | 1 ligoje |
| GLYCTKglycerate kinase | Kartais (5–29%) | 1 ligoje |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Kartais (5–29%) | 1 ligoje |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Kartais (5–29%) | 1 ligoje |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Kartais (5–29%) | 1 ligoje |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Kartais (5–29%) | 1 ligoje |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Kartais (5–29%) | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Kartais (5–29%) | 1 ligoje |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Kartais (5–29%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Kartais (5–29%) | 1 ligoje |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Kartais (5–29%) | 1 ligoje |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| NAXENAD(P)HX epimerase | Kartais (5–29%) | 2 ligose |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Kartais (5–29%) | 1 ligoje |
| PACS2phosphofurin acidic cluster sorting protein 2 | Kartais (5–29%) | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Kartais (5–29%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Kartais (5–29%) | 2 ligose |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PUS7pseudouridine synthase 7 | Kartais (5–29%) | 1 ligoje |
| SBF1SET binding factor 1 | Kartais (5–29%) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Kartais (5–29%) | 1 ligoje |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Kartais (5–29%) | 1 ligoje |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Kartais (5–29%) | 1 ligoje |
| SLC13A5solute carrier family 13 member 5 | Kartais (5–29%) | 1 ligoje |
| SLC1A2solute carrier family 1 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC38A3solute carrier family 38 member 3 | Kartais (5–29%) | 1 ligoje |
| SMG8SMG8 nonsense mediated mRNA decay factor | Kartais (5–29%) | 1 ligoje |
| STAG1STAG1 cohesin complex component | Kartais (5–29%) | 1 ligoje |
| SZT2SZT2 subunit of KICSTOR complex | Kartais (5–29%) | 1 ligoje |
| TRAK1trafficking kinesin protein 1 | Kartais (5–29%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Kartais (5–29%) | 1 ligoje |
| UFSP2UFM1 specific peptidase 2 | Kartais (5–29%) | 1 ligoje |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 1 ligoje |
| YME1L1YME1 like 1 ATPase | Kartais (5–29%) | 1 ligoje |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Kartais (5–29%) | 1 ligoje |
| ACBD6acyl-CoA binding domain containing 6 | Retai (1–4 %) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Retai (1–4 %) | 1 ligoje |
| ASPAaspartoacylase | Neužfiksuota | 1 ligoje |
| EXOC8exocyst complex component 8 | Neužfiksuota | 1 ligoje |
| ITPAinosine triphosphatase | Neužfiksuota | 1 ligoje |
| KIF7kinesin family member 7 | Neužfiksuota | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Neužfiksuota | 1 ligoje |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Neužfiksuota | 1 ligoje |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Neužfiksuota | 1 ligoje |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Neužfiksuota | 1 ligoje |
| PDE10Aphosphodiesterase 10A | Neužfiksuota | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Neužfiksuota | 1 ligoje |
| TBCKTBC1 domain containing kinase | Neužfiksuota | 1 ligoje |
| TRAPPC4trafficking protein particle complex subunit 4 | Neužfiksuota | 1 ligoje |
| WDR81WD repeat domain 81 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | 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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- 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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