Kenmerk
Brain degeneration
Klinische naam: Brain atrophy
Partial or complete wasting (loss) of brain tissue that was once present.
Samenvatting
- Ook bekend als
- Brain wasting
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
Posities op gen- en variantpagina's volgen deze keuze, in deze browser.
Read the genes linked to Brain degeneration, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen202 genen gekoppeld aan Brain degeneration
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Brain degeneration voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ATP5POATP synthase peripheral stalk subunit OSCP | Altijd | In 1 aandoening |
| CBScystathionine beta-synthase | Altijd | In 1 aandoening |
| COX11cytochrome c oxidase copper chaperone COX11 | Altijd | In 1 aandoening |
| COX8Acytochrome c oxidase subunit 8A | Altijd | In 1 aandoening |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Altijd | In 1 aandoening |
| FBXO28F-box protein 28 | Altijd | In 2 aandoeningen |
| GLULglutamate-ammonia ligase | Altijd | In 1 aandoening |
| GOLGA2golgin A2 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HTRA1HtrA serine peptidase 1 | Altijd | In 1 aandoening |
| INTS11integrator complex subunit 11 | Altijd | In 1 aandoening |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Altijd | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Altijd | In 1 aandoening |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Altijd | In 2 aandoeningen |
| MRAPmelanocortin 2 receptor accessory protein | Altijd | In 1 aandoening |
| MYORGmyogenesis regulating glycosidase | Altijd | In 1 aandoening |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Altijd | In 1 aandoening |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Altijd | In 1 aandoening |
| NECAP1NECAP endocytosis associated 1 | Altijd | In 2 aandoeningen |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Altijd | In 1 aandoening |
| NOTCH3notch receptor 3 | Altijd | In 2 aandoeningen |
| NUP133nucleoporin 133 | Altijd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Altijd | In 1 aandoening |
| RFXANKregulatory factor X associated ankyrin containing protein | Altijd | In 1 aandoening |
| RFXAPregulatory factor X associated protein | Altijd | In 1 aandoening |
| RNU4-2RNA, U4 small nuclear 2 | Altijd | In 1 aandoening |
| SCO1synthesis of cytochrome C oxidase 1 | Altijd | In 1 aandoening |
| VCPvalosin containing protein | Altijd | In 2 aandoeningen |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Altijd | In 1 aandoening |
| AFF3ALF transcription elongation factor 3 | Heel vaak (80–99%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Heel vaak (80–99%) | In 1 aandoening |
| COG7component of oligomeric golgi complex 7 | Heel vaak (80–99%) | In 1 aandoening |
| EMC1ER membrane protein complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Heel vaak (80–99%) | In 1 aandoening |
| GRNgranulin precursor | Heel vaak (80–99%) | In 1 aandoening |
| MAPTmicrotubule associated protein tau | Heel vaak (80–99%) | In 1 aandoening |
| PSEN1presenilin 1 | Heel vaak (80–99%) | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM106Btransmembrane protein 106B | Heel vaak (80–99%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 162 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ZNF335zinc finger protein 335 | Heel vaak (80–99%) | In 1 aandoening |
| ADARadenosine deaminase RNA specific | Vaak (30–79%) | In 1 aandoening |
| ARHGEF15Rho guanine nucleotide exchange factor 15 | Vaak (30–79%) | In 1 aandoening |
| BORCS5BLOC-1 related complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COX16cytochrome c oxidase assembly factor COX16 | Vaak (30–79%) | In 1 aandoening |
| DNAJC6DnaJ heat shock protein family (Hsp40) member C6 | Vaak (30–79%) | In 1 aandoening |
| DNM1dynamin 1 | Vaak (30–79%) | In 2 aandoeningen |
| ECHS1enoyl-CoA hydratase, short chain 1 | Vaak (30–79%) | In 1 aandoening |
| ELOVL4ELOVL fatty acid elongase 4 | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 2 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 1 aandoening |
| GEMIN4gem nuclear organelle associated protein 4 | Vaak (30–79%) | In 1 aandoening |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Vaak (30–79%) | In 1 aandoening |
| HID1HID1 domain containing | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Vaak (30–79%) | In 1 aandoening |
| IFIH1interferon induced with helicase C domain 1 | Vaak (30–79%) | In 1 aandoening |
| LSM11LSM11, U7 small nuclear RNA associated | Vaak (30–79%) | In 1 aandoening |
| MED11mediator complex subunit 11 | Vaak (30–79%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Vaak (30–79%) | In 1 aandoening |
| NKX6-2NK6 homeobox 2 | Vaak (30–79%) | In 1 aandoening |
| NTNG2netrin G2 | Vaak (30–79%) | In 1 aandoening |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 1 aandoening |
| PODXLpodocalyxin like | Vaak (30–79%) | In 1 aandoening |
| PURApurine rich element binding protein A | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| RBMXRNA binding motif protein X-linked | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Aribonuclease H2 subunit A | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Bribonuclease H2 subunit B | Vaak (30–79%) | In 1 aandoening |
| RNASEH2Cribonuclease H2 subunit C | Vaak (30–79%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Vaak (30–79%) | In 1 aandoening |
| RUSC2RUN and SH3 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Vaak (30–79%) | In 1 aandoening |
| SERAC1serine active site containing 1 | Vaak (30–79%) | In 1 aandoening |
| SLC16A2solute carrier family 16 member 2 | Vaak (30–79%) | In 1 aandoening |
| SLC1A4solute carrier family 1 member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC25A22solute carrier family 25 member 22 | Vaak (30–79%) | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Vaak (30–79%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| SYNJ1synaptojanin 1 | Vaak (30–79%) | In 2 aandoeningen |
| TPRKBTP53RK binding protein | Vaak (30–79%) | In 1 aandoening |
| TREX1three prime repair exonuclease 1 | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Vaak (30–79%) | In 2 aandoeningen |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 1 aandoening |
| ZNF592zinc finger protein 592 | Vaak (30–79%) | In 1 aandoening |
| ZNF668zinc finger protein 668 | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| ACTL6Bactin like 6B | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Soms (5–29%) | In 2 aandoeningen |
| AFG2AAAA ATPase AFG2A | Soms (5–29%) | In 1 aandoening |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Soms (5–29%) | In 1 aandoening |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Soms (5–29%) | In 1 aandoening |
| ASAH1N-acylsphingosine amidohydrolase 1 | Soms (5–29%) | In 1 aandoening |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Soms (5–29%) | In 1 aandoening |
| ATP6V1AATPase H+ transporting V1 subunit A | Soms (5–29%) | In 1 aandoening |
| AXIN1axin 1 | Soms (5–29%) | In 1 aandoening |
| BCAP31B cell receptor associated protein 31 | Soms (5–29%) | In 1 aandoening |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Soms (5–29%) | In 1 aandoening |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Soms (5–29%) | In 1 aandoening |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Soms (5–29%) | In 1 aandoening |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Soms (5–29%) | In 1 aandoening |
| CDK19cyclin dependent kinase 19 | Soms (5–29%) | In 1 aandoening |
| CELF2CUGBP Elav-like family member 2 | Soms (5–29%) | In 1 aandoening |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Soms (5–29%) | In 1 aandoening |
| CLTCclathrin heavy chain | Soms (5–29%) | In 1 aandoening |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Soms (5–29%) | In 1 aandoening |
| COG5component of oligomeric golgi complex 5 | Soms (5–29%) | In 1 aandoening |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Soms (5–29%) | In 1 aandoening |
| DALRD3DALR anticodon binding domain containing 3 | Soms (5–29%) | In 1 aandoening |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Soms (5–29%) | In 1 aandoening |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| DIAPH1diaphanous related formin 1 | Soms (5–29%) | In 1 aandoening |
| DOT1LDOT1 like histone lysine methyltransferase | Soms (5–29%) | In 1 aandoening |
| DPH5diphthamide biosynthesis 5 | Soms (5–29%) | In 1 aandoening |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Soms (5–29%) | In 1 aandoening |
| EPM2AEPM2A glucan phosphatase, laforin | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FGF12fibroblast growth factor 12 | Soms (5–29%) | In 1 aandoening |
| FOXG1forkhead box G1 | Soms (5–29%) | In 1 aandoening |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Soms (5–29%) | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Soms (5–29%) | In 1 aandoening |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Soms (5–29%) | In 1 aandoening |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Soms (5–29%) | In 1 aandoening |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Soms (5–29%) | In 1 aandoening |
| GLYCTKglycerate kinase | Soms (5–29%) | In 1 aandoening |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Soms (5–29%) | In 1 aandoening |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Soms (5–29%) | In 1 aandoening |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Soms (5–29%) | In 1 aandoening |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Soms (5–29%) | In 1 aandoening |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Soms (5–29%) | In 1 aandoening |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Soms (5–29%) | In 1 aandoening |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Soms (5–29%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MORC2MORC family CW-type zinc finger 2 | Soms (5–29%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Soms (5–29%) | In 1 aandoening |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Soms (5–29%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Soms (5–29%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Soms (5–29%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Soms (5–29%) | In 1 aandoening |
| NARS1asparaginyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| NAXENAD(P)HX epimerase | Soms (5–29%) | In 2 aandoeningen |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Soms (5–29%) | In 1 aandoening |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Soms (5–29%) | In 1 aandoening |
| PACS2phosphofurin acidic cluster sorting protein 2 | Soms (5–29%) | In 1 aandoening |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Soms (5–29%) | In 2 aandoeningen |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Soms (5–29%) | In 1 aandoening |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PUS7pseudouridine synthase 7 | Soms (5–29%) | In 1 aandoening |
| SBF1SET binding factor 1 | Soms (5–29%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Soms (5–29%) | In 1 aandoening |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Soms (5–29%) | In 1 aandoening |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Soms (5–29%) | In 1 aandoening |
| SLC13A5solute carrier family 13 member 5 | Soms (5–29%) | In 1 aandoening |
| SLC1A2solute carrier family 1 member 2 | Soms (5–29%) | In 1 aandoening |
| SLC38A3solute carrier family 38 member 3 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| STAG1STAG1 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| SZT2SZT2 subunit of KICSTOR complex | Soms (5–29%) | In 1 aandoening |
| TRAK1trafficking kinesin protein 1 | Soms (5–29%) | In 1 aandoening |
| UBA5ubiquitin like modifier activating enzyme 5 | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 1 aandoening |
| YME1L1YME1 like 1 ATPase | Soms (5–29%) | In 1 aandoening |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| ASPAaspartoacylase | Niet vastgelegd | In 1 aandoening |
| EXOC8exocyst complex component 8 | Niet vastgelegd | In 1 aandoening |
| ITPAinosine triphosphatase | Niet vastgelegd | In 1 aandoening |
| KIF7kinesin family member 7 | Niet vastgelegd | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Niet vastgelegd | In 1 aandoening |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Niet vastgelegd | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Niet vastgelegd | In 1 aandoening |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Niet vastgelegd | In 1 aandoening |
| PDE10Aphosphodiesterase 10A | Niet vastgelegd | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Niet vastgelegd | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Niet vastgelegd | In 1 aandoening |
| TRAPPC4trafficking protein particle complex subunit 4 | Niet vastgelegd | In 1 aandoening |
| WDR81WD repeat domain 81 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken