Cecha
Peripheral neuropathy
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Podsumowanie
- Znana także jako
- Peripheral nerve damage, Peripheral neuritis
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Peripheral neuropathy, and the rest of your genome, with one test.
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Zamawiam Genome Test271 genów powiązanych z Peripheral neuropathy
Zmiany w tych genach powodują rzadkie choroby, w których występuje Peripheral neuropathy. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ACER3alkaline ceramidase 3 | Zawsze | W 1 chorobie |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Zawsze | W 1 chorobie |
| BAG3BAG cochaperone 3 | Zawsze | W 1 chorobie |
| C19orf12chromosome 19 open reading frame 12 | Zawsze | W 1 chorobie |
| CADM3cell adhesion molecule 3 | Zawsze | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| DMXL2Dmx like 2 | Zawsze | W 1 chorobie |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EGR2early growth response 2 | Zawsze | W 2 chorobach |
| GDAP1ganglioside induced differentiation associated protein 1 | Zawsze | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Zawsze | W 1 chorobie |
| HSPB8heat shock protein family B (small) member 8 | Zawsze | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Zawsze | W 3 chorobach |
| INF2inverted formin 2 | Zawsze | W 1 chorobie |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Zawsze | W 1 chorobie |
| MFN2mitofusin 2 | Zawsze | W 2 chorobach |
| NDC1NDC1 transmembrane nucleoporin | Zawsze | W 1 chorobie |
| NGFnerve growth factor | Zawsze | W 1 chorobie |
| OPA1OPA1 mitochondrial dynamin like GTPase | Zawsze | W 3 chorobach |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Zawsze | W 1 chorobie |
| PEX5peroxisomal biogenesis factor 5 | Zawsze | W 1 chorobie |
| PNKPpolynucleotide kinase 3'-phosphatase | Zawsze | W 2 chorobach |
| POLGDNA polymerase gamma, catalytic subunit | Zawsze | W 5 chorobach |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Zawsze | W 6 chorobach |
| PSAPprosaposin | Zawsze | W 2 chorobach |
| REEP1receptor accessory protein 1 | Zawsze | W 1 chorobie |
| RFC1replication factor C subunit 1 | Zawsze | W 1 chorobie |
| RFC4replication factor C subunit 4 | Zawsze | W 1 chorobie |
| SCO2synthesis of cytochrome C oxidase 2 | Zawsze | W 1 chorobie |
| SCP2sterol carrier protein 2 | Zawsze | W 1 chorobie |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Zawsze | W 1 chorobie |
| TYMPthymidine phosphorylase | Zawsze | W 2 chorobach |
| ABCD1ATP binding cassette subfamily D member 1 | Bardzo często (80–99%) | W 2 chorobach |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Bardzo często (80–99%) | W 1 chorobie |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Bardzo często (80–99%) | W 1 chorobie |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Bardzo często (80–99%) | W 2 chorobach |
| APTXaprataxin | Bardzo często (80–99%) | W 1 chorobie |
| ATXN1ataxin 1 | Bardzo często (80–99%) | W 2 chorobach |
| ATXN3ataxin 3 | Bardzo często (80–99%) | W 2 chorobach |
Pokaż jeszcze 231 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| CCT5chaperonin containing TCP1 subunit 5 | Bardzo często (80–99%) | W 1 chorobie |
| ELP1elongator acetyltransferase complex subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| GBE11,4-alpha-glucan branching enzyme 1 | Bardzo często (80–99%) | W 1 chorobie |
| GCLCglutamate-cysteine ligase catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| LYSTlysosomal trafficking regulator | Bardzo często (80–99%) | W 2 chorobach |
| MYOTmyotilin | Bardzo często (80–99%) | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Bardzo często (80–99%) | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| PMP22peripheral myelin protein 22 | Bardzo często (80–99%) | W 3 chorobach |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Bardzo często (80–99%) | W 1 chorobie |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Bardzo często (80–99%) | W 1 chorobie |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Bardzo często (80–99%) | W 2 chorobach |
| SOX10SRY-box transcription factor 10 | Bardzo często (80–99%) | W 1 chorobie |
| TFGtrafficking from ER to golgi regulator | Bardzo często (80–99%) | W 2 chorobach |
| TTPAalpha tocopherol transfer protein | Bardzo często (80–99%) | W 1 chorobie |
| ALADaminolevulinate dehydratase | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP5F1DATP synthase F1 subunit delta | Często (30–79%) | W 1 chorobie |
| ATP5F1EATP synthase F1 subunit epsilon | Często (30–79%) | W 2 chorobach |
| ATP5MKATP synthase membrane subunit k | Często (30–79%) | W 1 chorobie |
| ATP5POATP synthase peripheral stalk subunit OSCP | Często (30–79%) | W 1 chorobie |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Często (30–79%) | W 1 chorobie |
| BORCS5BLOC-1 related complex subunit 5 | Często (30–79%) | W 1 chorobie |
| CAPN1calpain 1 | Często (30–79%) | W 2 chorobach |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Często (30–79%) | W 2 chorobach |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Często (30–79%) | W 2 chorobach |
| DCAF17DDB1 and CUL4 associated factor 17 | Często (30–79%) | W 1 chorobie |
| ELOVL5ELOVL fatty acid elongase 5 | Często (30–79%) | W 1 chorobie |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 3 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 2 chorobach |
| GALCgalactosylceramidase | Często (30–79%) | W 3 chorobach |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Często (30–79%) | W 3 chorobach |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Często (30–79%) | W 2 chorobach |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Często (30–79%) | W 1 chorobie |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| LIG3DNA ligase 3 | Często (30–79%) | W 1 chorobie |
| LRPPRCleucine rich pentatricopeptide repeat containing | Często (30–79%) | W 1 chorobie |
| MARS1methionyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Często (30–79%) | W 1 chorobie |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Często (30–79%) | W 2 chorobach |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Często (30–79%) | W 1 chorobie |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Często (30–79%) | W 2 chorobach |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Często (30–79%) | W 2 chorobach |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Często (30–79%) | W 2 chorobach |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Często (30–79%) | W 2 chorobach |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Często (30–79%) | W 2 chorobach |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Często (30–79%) | W 1 chorobie |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Często (30–79%) | W 1 chorobie |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Często (30–79%) | W 1 chorobie |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Często (30–79%) | W 1 chorobie |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Często (30–79%) | W 1 chorobie |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Często (30–79%) | W 1 chorobie |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Często (30–79%) | W 1 chorobie |
| MTHFRmethylenetetrahydrofolate reductase | Często (30–79%) | W 1 chorobie |
| MTRFRmitochondrial translation release factor in rescue | Często (30–79%) | W 1 chorobie |
| MYH14myosin heavy chain 14 | Często (30–79%) | W 2 chorobach |
| NAGAalpha-N-acetylgalactosaminidase | Często (30–79%) | W 2 chorobach |
| NARS1asparaginyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| NGLY1N-glycanase 1 | Często (30–79%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Często (30–79%) | W 1 chorobie |
| PLA2G6phospholipase A2 group VI | Często (30–79%) | W 1 chorobie |
| PNPLA6patatin like domain 6, lysophospholipase | Często (30–79%) | W 2 chorobach |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Często (30–79%) | W 1 chorobie |
| PRTN3proteinase 3 | Często (30–79%) | W 1 chorobie |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Często (30–79%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Często (30–79%) | W 2 chorobach |
| RRM1ribonucleotide reductase catalytic subunit M1 | Często (30–79%) | W 1 chorobie |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Często (30–79%) | W 2 chorobach |
| SACSsacsin molecular chaperone | Często (30–79%) | W 1 chorobie |
| SCYL1SCY1 like pseudokinase 1 | Często (30–79%) | W 1 chorobie |
| SLC12A6solute carrier family 12 member 6 | Często (30–79%) | W 1 chorobie |
| SLC30A10solute carrier family 30 member 10 | Często (30–79%) | W 1 chorobie |
| SLC46A1solute carrier family 46 member 1 | Często (30–79%) | W 2 chorobach |
| SNAP29synaptosome associated protein 29 | Często (30–79%) | W 2 chorobach |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Często (30–79%) | W 1 chorobie |
| TK2thymidine kinase 2 | Często (30–79%) | W 1 chorobie |
| TNXBtenascin XB | Często (30–79%) | W 1 chorobie |
| TOP3ADNA topoisomerase III alpha | Często (30–79%) | W 1 chorobie |
| TRMT5tRNA methyltransferase 5 | Często (30–79%) | W 1 chorobie |
| ZFRzinc finger RNA binding protein | Często (30–79%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Czasami (5–29%) | W 2 chorobach |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| ADA2adenosine deaminase 2 | Czasami (5–29%) | W 2 chorobach |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Czasami (5–29%) | W 1 chorobie |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Czasami (5–29%) | W 2 chorobach |
| ATL1atlastin GTPase 1 | Czasami (5–29%) | W 2 chorobach |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Czasami (5–29%) | W 1 chorobie |
| BMP6bone morphogenetic protein 6 | Czasami (5–29%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Czasami (5–29%) | W 1 chorobie |
| BTNL2butyrophilin like 2 | Czasami (5–29%) | W 1 chorobie |
| CARS1cysteinyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| CBLIFcobalamin binding intrinsic factor | Czasami (5–29%) | W 1 chorobie |
| CCND1cyclin D1 | Czasami (5–29%) | W 1 chorobie |
| CD28CD28 molecule | Czasami (5–29%) | W 1 chorobie |
| CD4CD4 molecule | Czasami (5–29%) | W 1 chorobie |
| CISD2CDGSH iron sulfur domain 2 | Czasami (5–29%) | W 1 chorobie |
| DBR1debranching RNA lariats 1 | Czasami (5–29%) | W 1 chorobie |
| DDB2damage specific DNA binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Czasami (5–29%) | W 1 chorobie |
| DNASE1L3deoxyribonuclease 1L3 | Czasami (5–29%) | W 1 chorobie |
| DNMT1DNA methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Czasami (5–29%) | W 1 chorobie |
| DSTYKdual serine/threonine and tyrosine protein kinase | Czasami (5–29%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Czasami (5–29%) | W 3 chorobach |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Czasami (5–29%) | W 2 chorobach |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Czasami (5–29%) | W 2 chorobach |
| FBN1fibrillin 1 | Czasami (5–29%) | W 2 chorobach |
| FLNCfilamin C | Czasami (5–29%) | W 1 chorobie |
| GTF2E2general transcription factor IIE subunit 2 | Czasami (5–29%) | W 1 chorobie |
| GTF2H5general transcription factor IIH subunit 5 | Czasami (5–29%) | W 1 chorobie |
| GUK1guanylate kinase 1 | Czasami (5–29%) | W 1 chorobie |
| HADHhydroxyacyl-CoA dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Czasami (5–29%) | W 1 chorobie |
| HFEhomeostatic iron regulator | Czasami (5–29%) | W 1 chorobie |
| HLA-Bmajor histocompatibility complex, class I, B | Czasami (5–29%) | W 1 chorobie |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Czasami (5–29%) | W 2 chorobach |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Czasami (5–29%) | W 1 chorobie |
| INSRinsulin receptor | Czasami (5–29%) | W 1 chorobie |
| IRF4interferon regulatory factor 4 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Czasami (5–29%) | W 1 chorobie |
| MPC1mitochondrial pyruvate carrier 1 | Czasami (5–29%) | W 1 chorobie |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| MPV17mitochondrial inner membrane protein MPV17 | Czasami (5–29%) | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Czasami (5–29%) | W 1 chorobie |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Czasami (5–29%) | W 1 chorobie |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Czasami (5–29%) | W 1 chorobie |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Czasami (5–29%) | W 1 chorobie |
| MYD88MYD88 innate immune signal transduction adaptor | Czasami (5–29%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Czasami (5–29%) | W 1 chorobie |
| NEFLneurofilament light chain | Czasami (5–29%) | W 1 chorobie |
| NFU1NFU1 iron-sulfur cluster scaffold | Czasami (5–29%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Czasami (5–29%) | W 1 chorobie |
| NOTCH2notch receptor 2 | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| PEX1peroxisomal biogenesis factor 1 | Czasami (5–29%) | W 1 chorobie |
| PEX16peroxisomal biogenesis factor 16 | Czasami (5–29%) | W 1 chorobie |
| PEX6peroxisomal biogenesis factor 6 | Czasami (5–29%) | W 1 chorobie |
| PHF6PHD finger protein 6 | Czasami (5–29%) | W 1 chorobie |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Czasami (5–29%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Czasami (5–29%) | W 1 chorobie |
| PMPCApeptidase, mitochondrial processing subunit alpha | Czasami (5–29%) | W 1 chorobie |
| POLG2DNA polymerase gamma 2, accessory subunit | Czasami (5–29%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Czasami (5–29%) | W 2 chorobach |
| POLR3BRNA polymerase III subunit B | Czasami (5–29%) | W 1 chorobie |
| PRF1perforin 1 | Czasami (5–29%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Czasami (5–29%) | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Czasami (5–29%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Czasami (5–29%) | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Czasami (5–29%) | W 1 chorobie |
| RNASEH1ribonuclease H1 | Czasami (5–29%) | W 1 chorobie |
| RNF113Aring finger protein 113A | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| SAA1serum amyloid A1 | Czasami (5–29%) | W 1 chorobie |
| SEPTIN9septin 9 | Czasami (5–29%) | W 2 chorobach |
| SIL1SIL1 nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| SLC25A4solute carrier family 25 member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC52A3solute carrier family 52 member 3 | Czasami (5–29%) | W 1 chorobie |
| SMC1Astructural maintenance of chromosomes 1A | Czasami (5–29%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Czasami (5–29%) | W 1 chorobie |
| SMPD1sphingomyelin phosphodiesterase 1 | Czasami (5–29%) | W 1 chorobie |
| SPG21SPG21 abhydrolase domain containing, maspardin | Czasami (5–29%) | W 1 chorobie |
| STX11syntaxin 11 | Czasami (5–29%) | W 1 chorobie |
| STXBP2syntaxin binding protein 2 | Czasami (5–29%) | W 1 chorobie |
| TARS1threonyl-tRNA synthetase 1 | Czasami (5–29%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Czasami (5–29%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Czasami (5–29%) | W 1 chorobie |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Czasami (5–29%) | W 1 chorobie |
| TNFRSF1BTNF receptor superfamily member 1B | Czasami (5–29%) | W 1 chorobie |
| TWNKtwinkle mtDNA helicase | Czasami (5–29%) | W 1 chorobie |
| UNC13Dunc-13 homolog D | Czasami (5–29%) | W 1 chorobie |
| WASWASP actin nucleation promoting factor | Czasami (5–29%) | W 1 chorobie |
| WFS1wolframin ER transmembrane glycoprotein | Czasami (5–29%) | W 1 chorobie |
| XPAXPA, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Czasami (5–29%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Rzadko (1–4%) | W 1 chorobie |
| FA2Hfatty acid 2-hydroxylase | Rzadko (1–4%) | W 1 chorobie |
| GCDHglutaryl-CoA dehydrogenase | Rzadko (1–4%) | W 1 chorobie |
| GJB2gap junction protein beta 2 | Rzadko (1–4%) | W 1 chorobie |
| GJB6gap junction protein beta 6 | Rzadko (1–4%) | W 1 chorobie |
| KIF1Ckinesin family member 1C | Rzadko (1–4%) | W 1 chorobie |
| LDB3LIM domain binding 3 | Rzadko (1–4%) | W 1 chorobie |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Rzadko (1–4%) | W 1 chorobie |
| TTBK2tau tubulin kinase 2 | Rzadko (1–4%) | W 1 chorobie |
| TTRtransthyretin | Rzadko (1–4%) | W 3 chorobach |
| AGXTalanine--glyoxylate aminotransferase | Nie odnotowano | W 1 chorobie |
| ARandrogen receptor | Nie odnotowano | W 1 chorobie |
| ATXN8ataxin 8 | Nie odnotowano | W 1 chorobie |
| ATXN8OSATXN8 opposite strand lncRNA | Nie odnotowano | W 1 chorobie |
| COX6A1cytochrome c oxidase subunit 6A1 | Nie odnotowano | W 1 chorobie |
| CPOXcoproporphyrinogen oxidase | Nie odnotowano | W 1 chorobie |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Nie odnotowano | W 1 chorobie |
| GARS1glycyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| GJB1gap junction protein beta 1 | Nie odnotowano | W 1 chorobie |
| HARS1histidyl-tRNA synthetase 1 | Nie odnotowano | W 1 chorobie |
| HK1hexokinase 1 | Nie odnotowano | W 1 chorobie |
| HSPB1heat shock protein family B (small) member 1 | Nie odnotowano | W 1 chorobie |
| HSPB3heat shock protein family B (small) member 3 | Nie odnotowano | W 1 chorobie |
| KIF1Akinesin family member 1A | Nie odnotowano | W 2 chorobach |
| KIF1Bkinesin family member 1B | Nie odnotowano | W 1 chorobie |
| MAGmyelin associated glycoprotein | Nie odnotowano | W 1 chorobie |
| MFFmitochondrial fission factor | Nie odnotowano | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nie odnotowano | W 1 chorobie |
| MPZmyelin protein zero | Nie odnotowano | W 1 chorobie |
| NAGLUN-acetyl-alpha-glucosaminidase | Nie odnotowano | W 1 chorobie |
| PDK3pyruvate dehydrogenase kinase 3 | Nie odnotowano | W 1 chorobie |
| PPOXprotoporphyrinogen oxidase | Nie odnotowano | W 1 chorobie |
| RAB7ARAB7A, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RETREG1reticulophagy regulator 1 | Nie odnotowano | W 1 chorobie |
| SGPL1sphingosine-1-phosphate lyase 1 | Nie odnotowano | W 1 chorobie |
| SLC5A6solute carrier family 5 member 6 | Nie odnotowano | W 1 chorobie |
| SLC5A7solute carrier family 5 member 7 | Nie odnotowano | W 1 chorobie |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Nie odnotowano | W 1 chorobie |
| SURF1SURF1 cytochrome c oxidase assembly factor | Nie odnotowano | W 1 chorobie |
| TGM6transglutaminase 6 | Nie odnotowano | W 1 chorobie |
| TPI1triosephosphate isomerase 1 | Nie odnotowano | W 1 chorobie |
| TXN2thioredoxin 2 | Nie odnotowano | W 1 chorobie |
| WNK1WNK lysine deficient protein kinase 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy podrzędne
- Peripheral axonal neuropathy144 genów
- Nerve damage causing decreased feeling and movement107 genów
- Peripheral nerve disease75 genów
- Damage to nerves that sense feeling59 genów
- Demyelinating peripheral neuropathy58 genów
- Motor polyneuropathy27 genów
- Mixed demyelinating and axonal polyneuropathy19 genów
- Progressive peripheral neuropathy5 genów
- Acute episodes of neuropathic symptoms4 genów
- Single damaged nerve2 genów
- Chronic sensorineural polyneuropathy1 gen
- Entrapment neuropathy1 gen
- Episodic peripheral neuropathy1 gen
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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