Træk
Peripheral axonal neuropathy
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Resumé
- Også kaldet
- Axonal neuropathy, Axonal peripheral neuropathy
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test144 gener knyttet til Peripheral axonal neuropathy
Ændringer i disse gener forårsager sjældne tilstande, hvor Peripheral axonal neuropathy 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 2 tilstande |
| ARHGAP19Rho GTPase activating protein 19 | Altid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Altid | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Altid | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Altid | I 1 tilstand |
| FBLN5fibulin 5 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KIF1Bkinesin family member 1B | Altid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Altid | I 1 tilstand |
| MFN2mitofusin 2 | Altid | I 2 tilstande |
| MPV17mitochondrial inner membrane protein MPV17 | Altid | I 2 tilstande |
| NEMFnuclear export mediator factor | Altid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Altid | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 1 tilstand |
| PSAPprosaposin | Altid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Altid | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Altid | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SERPING1serpin family G member 1 | Altid | I 1 tilstand |
| SETXsenataxin | Altid | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Altid | I 2 tilstande |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 2 tilstande |
| VPS13Avacuolar protein sorting 13 homolog A | Altid | I 2 tilstande |
| VPS41VPS41 subunit of HOPS complex | Altid | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Meget ofte (80–99 %) | I 2 tilstande |
| COASYCoenzyme A synthase | Meget ofte (80–99 %) | I 1 tilstand |
| HK1hexokinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HSPB1heat shock protein family B (small) member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Meget ofte (80–99 %) | I 2 tilstande |
| MMEmembrane metalloendopeptidase | Meget ofte (80–99 %) | I 1 tilstand |
| NEFLneurofilament light chain | Meget ofte (80–99 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Meget ofte (80–99 %) | I 2 tilstande |
| ABCA1ATP binding cassette subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Ofte (30–79 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ofte (30–79 %) | I 3 tilstande |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Ofte (30–79 %) | I 2 tilstande |
Vis 104 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| DDHD1DDHD domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| DHX9DExH-box helicase 9 | Ofte (30–79 %) | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL5ELOVL fatty acid elongase 5 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Ofte (30–79 %) | I 2 tilstande |
| KIF1Akinesin family member 1A | Ofte (30–79 %) | I 2 tilstande |
| KIF5Akinesin family member 5A | Ofte (30–79 %) | I 1 tilstand |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| MPZmyelin protein zero | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 2 tilstande |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 3 tilstande |
| RNF220ring finger protein 220 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 2 tilstande |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ofte (30–79 %) | I 1 tilstand |
| SPTBN4spectrin beta, non-erythrocytic 4 | Ofte (30–79 %) | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstande |
| TUBB3tubulin beta 3 class III | Ofte (30–79 %) | I 1 tilstand |
| TYMPthymidine phosphorylase | Ofte (30–79 %) | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ZFYVE26zinc finger FYVE-type containing 26 | Ofte (30–79 %) | I 2 tilstande |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN3ataxin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| DNM2dynamin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC3exosome component 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC8exosome component 8 | Nogle gange (5–29 %) | I 1 tilstand |
| EXOSC9exosome component 9 | Nogle gange (5–29 %) | I 1 tilstand |
| GCKglucokinase | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFRD1interferon related developmental regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INSinsulin | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Nogle gange (5–29 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Nogle gange (5–29 %) | I 1 tilstand |
| MYF6myogenic factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PDX1pancreatic and duodenal homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXNA1plexin A1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF170ring finger protein 170 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TNXBtenascin XB | Nogle gange (5–29 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 2 tilstande |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL9kelch like family member 9 | Sjældent (1–4%) | I 1 tilstand |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sjældent (1–4%) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registreret | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registreret | I 1 tilstand |
| ATL1atlastin GTPase 1 | Ikke registreret | I 1 tilstand |
| CCT5chaperonin containing TCP1 subunit 5 | Ikke registreret | I 1 tilstand |
| COA7cytochrome c oxidase assembly factor 7 | Ikke registreret | I 1 tilstand |
| DCAF8DDB1 and CUL4 associated factor 8 | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Ikke registreret | I 1 tilstand |
| NAGAalpha-N-acetylgalactosaminidase | Ikke registreret | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registreret | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registreret | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registreret | I 1 tilstand |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Ikke registreret | I 1 tilstand |
| TRIM2tripartite motif containing 2 | Ikke registreret | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ikke registreret | I 1 tilstand |
| TTRtransthyretin | Ikke registreret | I 1 tilstand |
| VPS13Dvacuolar protein sorting 13 homolog D | 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.
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