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Tunnus
Peripheral axonal neuropathy
An abnormality characterized by disruption of the normal functioning of peripheral axons.
Kokkuvõte
- Teised nimetused
- Axonal neuropathy, Axonal peripheral neuropathy
- Kehasüsteem
- Abnormality of the nervous system
Peripheral axonal neuropathyHP:0003477
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Read the genes linked to Peripheral axonal neuropathy, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test144 geeni on seotud tunnusega Peripheral axonal neuropathy
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Peripheral axonal neuropathy. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Alati | Esineb 2 haiguses |
| ARHGAP19Rho GTPase activating protein 19 | Alati | Esineb 1 haiguses |
| ATP11AATPase phospholipid transporting 11A | Alati | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Alati | Esineb 1 haiguses |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Alati | Esineb 1 haiguses |
| FBLN5fibulin 5 | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| KARS1lysyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| KIF1Bkinesin family member 1B | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| MCM3APminichromosome maintenance complex component 3 associated protein | Alati | Esineb 1 haiguses |
| MFN2mitofusin 2 | Alati | Esineb 2 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 2 haiguses |
| NEMFnuclear export mediator factor | Alati | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alati | Esineb 1 haiguses |
| POLG2DNA polymerase gamma 2, accessory subunit | Alati | Esineb 2 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 1 haiguses |
| REEP1receptor accessory protein 1 | Alati | Esineb 1 haiguses |
| RETREG1reticulophagy regulator 1 | Alati | Esineb 1 haiguses |
| RPS6KC1ribosomal protein S6 kinase C1 | Alati | Esineb 1 haiguses |
| SCO2synthesis of cytochrome C oxidase 2 | Alati | Esineb 1 haiguses |
| SERPING1serpin family G member 1 | Alati | Esineb 1 haiguses |
| SETXsenataxin | Alati | Esineb 1 haiguses |
| SLC25A46solute carrier family 25 member 46 | Alati | Esineb 2 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 2 haiguses |
| VPS13Avacuolar protein sorting 13 homolog A | Alati | Esineb 2 haiguses |
| VPS41VPS41 subunit of HOPS complex | Alati | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| COASYCoenzyme A synthase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HSPB1heat shock protein family B (small) member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MMEmembrane metalloendopeptidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEFLneurofilament light chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Väga sageli (80–99%) | Esineb 2 haiguses |
| ABCA1ATP binding cassette subfamily A member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATAD3AATPase family AAA domain containing 3A | Sageli (30–79%) | Esineb 3 haiguses |
| CYP2U1cytochrome P450 family 2 subfamily U member 1 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 104 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DDHD1DDHD domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DHX9DExH-box helicase 9 | Sageli (30–79%) | Esineb 1 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ELOVL5ELOVL fatty acid elongase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sageli (30–79%) | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sageli (30–79%) | Esineb 1 haiguses |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GBA2glucosylceramidase beta 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF1Akinesin family member 1A | Sageli (30–79%) | Esineb 2 haiguses |
| KIF5Akinesin family member 5A | Sageli (30–79%) | Esineb 1 haiguses |
| KLC2kinesin light chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LIG3DNA ligase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MPZmyelin protein zero | Sageli (30–79%) | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Sageli (30–79%) | Esineb 2 haiguses |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Sageli (30–79%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Sageli (30–79%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Sageli (30–79%) | Esineb 3 haiguses |
| RNF220ring finger protein 220 | Sageli (30–79%) | Esineb 1 haiguses |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Sageli (30–79%) | Esineb 2 haiguses |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SPTBN4spectrin beta, non-erythrocytic 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TBCEtubulin folding cofactor E | Sageli (30–79%) | Esineb 2 haiguses |
| TUBB3tubulin beta 3 class III | Sageli (30–79%) | Esineb 1 haiguses |
| TYMPthymidine phosphorylase | Sageli (30–79%) | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 1 haiguses |
| WFS1wolframin ER transmembrane glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| ZFYVE26zinc finger FYVE-type containing 26 | Sageli (30–79%) | Esineb 2 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATXN3ataxin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 2 haiguses |
| DNM2dynamin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOSC3exosome component 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOSC8exosome component 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GCKglucokinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFRD1interferon related developmental regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSinsulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KRASKRas proto-oncogene, GTPase | Mõnikord (5–29%) | Esineb 2 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MICU1mitochondrial calcium uptake 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTMR14myotubularin related protein 14 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYF6myogenic factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDX1pancreatic and duodenal homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLXNA1plexin A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF170ring finger protein 170 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STAT3signal transducer and activator of transcription 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNXBtenascin XB | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 2 haiguses |
| VRK1VRK serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL9kelch like family member 9 | Harva (1–4%) | Esineb 1 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| AMPD2adenosine monophosphate deaminase 2 | Pole registreeritud | Esineb 1 haiguses |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| ATL1atlastin GTPase 1 | Pole registreeritud | Esineb 1 haiguses |
| CCT5chaperonin containing TCP1 subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| COA7cytochrome c oxidase assembly factor 7 | Pole registreeritud | Esineb 1 haiguses |
| DCAF8DDB1 and CUL4 associated factor 8 | Pole registreeritud | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Pole registreeritud | Esineb 1 haiguses |
| GBE11,4-alpha-glucan branching enzyme 1 | Pole registreeritud | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Pole registreeritud | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Pole registreeritud | Esineb 1 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Pole registreeritud | Esineb 1 haiguses |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Pole registreeritud | Esineb 1 haiguses |
| TRIM2tripartite motif containing 2 | Pole registreeritud | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Pole registreeritud | Esineb 1 haiguses |
| TTRtransthyretin | Pole registreeritud | Esineb 1 haiguses |
| VPS13Dvacuolar protein sorting 13 homolog D | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
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Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Logi sisseKüsiAlustaalates 449 $
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast