Tunnus
Peripheral nerve disease
Kliiniline nimetus: Polyneuropathy
A generalized disorder of peripheral nerves.
Kokkuvõte
- Kehasüsteem
- Abnormality of the nervous system
Read the genes linked to Peripheral nerve disease, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test75 geeni on seotud tunnusega Peripheral nerve disease
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Peripheral nerve disease. 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 |
|---|---|---|
| ABCC8ATP binding cassette subfamily C member 8 | Alati | Esineb 1 haiguses |
| ARHGAP19Rho GTPase activating protein 19 | Alati | Esineb 1 haiguses |
| ATXN10ataxin 10 | Alati | Esineb 1 haiguses |
| B2Mbeta-2-microglobulin | Alati | Esineb 1 haiguses |
| COX18cytochrome c oxidase assembly factor COX18 | Alati | Esineb 1 haiguses |
| DHHdesert hedgehog signaling molecule | Alati | Esineb 2 haiguses |
| DMXL2Dmx like 2 | Alati | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 1 haiguses |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Alati | Esineb 1 haiguses |
| KLC4kinesin light chain 4 | Alati | Esineb 1 haiguses |
| LITAFlipopolysaccharide induced TNF factor | Alati | Esineb 1 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| NDC1NDC1 transmembrane nucleoporin | Alati | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Alati | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Alati | Esineb 1 haiguses |
| PSAPprosaposin | Alati | Esineb 1 haiguses |
| PTCRApre T cell antigen receptor alpha | Alati | Esineb 1 haiguses |
| RAB32RAB32, member RAS oncogene family | Alati | Esineb 1 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Alati | Esineb 1 haiguses |
| TBCBtubulin folding cofactor B | Alati | Esineb 1 haiguses |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEPTIN9septin 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTRtransthyretin | Väga sageli (80–99%) | Esineb 3 haiguses |
| UQCRC1ubiquinol-cytochrome c reductase core protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARL6IP1ARL6 interacting reticulophagy regulator 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GSNgelsolin | Sageli (30–79%) | Esineb 2 haiguses |
| MTRFRmitochondrial translation release factor in rescue | Sageli (30–79%) | Esineb 1 haiguses |
| PSMC3proteasome 26S subunit, ATPase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ALADaminolevulinate dehydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP7BATPase copper transporting beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| BCKDKbranched chain keto acid dehydrogenase kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GRM1glutamate metabotropic receptor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| NF1neurofibromin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDYNprodynorphin | Mõnikord (5–29%) | Esineb 1 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Harva (1–4%) | Esineb 1 haiguses |
Näita veel 35 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Harva (1–4%) | Esineb 1 haiguses |
| NAGSN-acetylglutamate synthase | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Harva (1–4%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Pole registreeritud | Esineb 1 haiguses |
| CD59CD59 molecule (CD59 blood group) | Pole registreeritud | Esineb 1 haiguses |
| COQ7coenzyme Q7, hydroxylase | Pole registreeritud | Esineb 1 haiguses |
| DGUOKdeoxyguanosine kinase | Pole registreeritud | Esineb 1 haiguses |
| EDNRBendothelin receptor type B | Pole registreeritud | Esineb 1 haiguses |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Pole registreeritud | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Pole registreeritud | Esineb 1 haiguses |
| LDB3LIM domain binding 3 | Pole registreeritud | Esineb 1 haiguses |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Pole registreeritud | Esineb 1 haiguses |
| MT-CYBmitochondrially encoded cytochrome b | Pole registreeritud | Esineb 1 haiguses |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Pole registreeritud | Esineb 1 haiguses |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| MYD88MYD88 innate immune signal transduction adaptor | Pole registreeritud | Esineb 1 haiguses |
| MYOTmyotilin | Pole registreeritud | Esineb 1 haiguses |
| OPA1OPA1 mitochondrial dynamin like GTPase | Pole registreeritud | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Pole registreeritud | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Pole registreeritud | Esineb 1 haiguses |
| PMM2phosphomannomutase 2 | Pole registreeritud | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Pole registreeritud | Esineb 1 haiguses |
| RPIAribose 5-phosphate isomerase A | Pole registreeritud | Esineb 1 haiguses |
| SETXsenataxin | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| SNAP29synaptosome associated protein 29 | 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.
Laiemad tunnused
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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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast