Træk
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.
Resumé
- Også kaldet
- Peripheral nerve damage, Peripheral neuritis
- Kropssystem
- Abnormality of the nervous system
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Peripheral 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 |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altid | I 1 tilstand |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altid | I 1 tilstand |
| BAG3BAG cochaperone 3 | Altid | I 1 tilstand |
| C19orf12chromosome 19 open reading frame 12 | Altid | I 1 tilstand |
| CADM3cell adhesion molecule 3 | Altid | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 1 tilstand |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EGR2early growth response 2 | Altid | I 2 tilstande |
| GDAP1ganglioside induced differentiation associated protein 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| HSPB8heat shock protein family B (small) member 8 | Altid | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altid | I 3 tilstande |
| INF2inverted formin 2 | Altid | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altid | I 1 tilstand |
| MFN2mitofusin 2 | Altid | I 2 tilstande |
| NDC1NDC1 transmembrane nucleoporin | Altid | I 1 tilstand |
| NGFnerve growth factor | Altid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altid | I 3 tilstande |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altid | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Altid | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Altid | I 2 tilstande |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 5 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altid | I 6 tilstande |
| PSAPprosaposin | Altid | I 2 tilstande |
| REEP1receptor accessory protein 1 | Altid | I 1 tilstand |
| RFC1replication factor C subunit 1 | Altid | I 1 tilstand |
| RFC4replication factor C subunit 4 | Altid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Altid | I 1 tilstand |
| SCP2sterol carrier protein 2 | Altid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 1 tilstand |
| TYMPthymidine phosphorylase | Altid | I 2 tilstande |
| ABCD1ATP binding cassette subfamily D member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| APTXaprataxin | Meget ofte (80–99 %) | I 1 tilstand |
| ATXN1ataxin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ATXN3ataxin 3 | Meget ofte (80–99 %) | I 2 tilstande |
Vis 231 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| CCT5chaperonin containing TCP1 subunit 5 | Meget ofte (80–99 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GBE11,4-alpha-glucan branching enzyme 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GCLCglutamate-cysteine ligase catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| LYSTlysosomal trafficking regulator | Meget ofte (80–99 %) | I 2 tilstande |
| MYOTmyotilin | Meget ofte (80–99 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Meget ofte (80–99 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Meget ofte (80–99 %) | I 3 tilstande |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Meget ofte (80–99 %) | I 1 tilstand |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX10SRY-box transcription factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Meget ofte (80–99 %) | I 2 tilstande |
| TTPAalpha tocopherol transfer protein | Meget ofte (80–99 %) | I 1 tilstand |
| ALADaminolevulinate dehydratase | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Ofte (30–79 %) | I 2 tilstande |
| ATP5MKATP synthase membrane subunit k | Ofte (30–79 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Ofte (30–79 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Ofte (30–79 %) | I 1 tilstand |
| BORCS5BLOC-1 related complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| CAPN1calpain 1 | Ofte (30–79 %) | I 2 tilstande |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Ofte (30–79 %) | I 2 tilstande |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Ofte (30–79 %) | I 2 tilstande |
| DCAF17DDB1 and CUL4 associated factor 17 | Ofte (30–79 %) | I 1 tilstand |
| ELOVL5ELOVL fatty acid elongase 5 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 3 tilstande |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Ofte (30–79 %) | I 3 tilstande |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Ofte (30–79 %) | I 2 tilstande |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LIG3DNA ligase 3 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Ofte (30–79 %) | I 2 tilstande |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Ofte (30–79 %) | I 1 tilstand |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Ofte (30–79 %) | I 2 tilstande |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Ofte (30–79 %) | I 2 tilstande |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Ofte (30–79 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Ofte (30–79 %) | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Ofte (30–79 %) | I 1 tilstand |
| MTHFRmethylenetetrahydrofolate reductase | Ofte (30–79 %) | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Ofte (30–79 %) | I 1 tilstand |
| MYH14myosin heavy chain 14 | Ofte (30–79 %) | I 2 tilstande |
| NAGAalpha-N-acetylgalactosaminidase | Ofte (30–79 %) | I 2 tilstande |
| NARS1asparaginyl-tRNA synthetase 1 | Ofte (30–79 %) | I 2 tilstande |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | 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 2 tilstande |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRTN3proteinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Ofte (30–79 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Ofte (30–79 %) | I 2 tilstande |
| RRM1ribonucleotide reductase catalytic subunit M1 | Ofte (30–79 %) | I 1 tilstand |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Ofte (30–79 %) | I 2 tilstande |
| SACSsacsin molecular chaperone | Ofte (30–79 %) | I 1 tilstand |
| SCYL1SCY1 like pseudokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC30A10solute carrier family 30 member 10 | Ofte (30–79 %) | I 1 tilstand |
| SLC46A1solute carrier family 46 member 1 | Ofte (30–79 %) | I 2 tilstande |
| SNAP29synaptosome associated protein 29 | Ofte (30–79 %) | I 2 tilstande |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TK2thymidine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TNXBtenascin XB | Ofte (30–79 %) | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| ZFRzinc finger RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Nogle gange (5–29 %) | I 1 tilstand |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ATL1atlastin GTPase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Nogle gange (5–29 %) | I 1 tilstand |
| BMP6bone morphogenetic protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CBLIFcobalamin binding intrinsic factor | Nogle gange (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| CD28CD28 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CD4CD4 molecule | Nogle gange (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DBR1debranching RNA lariats 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DDB2damage specific DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Nogle gange (5–29 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT1DNA methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 1 tilstand |
| DSTYKdual serine/threonine and tyrosine protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 3 tilstande |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nogle gange (5–29 %) | I 2 tilstande |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Nogle gange (5–29 %) | I 2 tilstande |
| FBN1fibrillin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FLNCfilamin C | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2E2general transcription factor IIE subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF2H5general transcription factor IIH subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GUK1guanylate kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Nogle gange (5–29 %) | I 1 tilstand |
| HFEhomeostatic iron regulator | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IRF4interferon regulatory factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Nogle gange (5–29 %) | I 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Nogle gange (5–29 %) | I 1 tilstand |
| MYD88MYD88 innate immune signal transduction adaptor | Nogle gange (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFLneurofilament light chain | Nogle gange (5–29 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Nogle gange (5–29 %) | I 1 tilstand |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Nogle gange (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PMPCApeptidase, mitochondrial processing subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| POLG2DNA polymerase gamma 2, accessory subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Nogle gange (5–29 %) | I 2 tilstande |
| POLR3BRNA polymerase III subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| PRF1perforin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Nogle gange (5–29 %) | I 1 tilstand |
| RMND1required for meiotic nuclear division 1 homolog | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH1ribonuclease H1 | Nogle gange (5–29 %) | I 1 tilstand |
| RNF113Aring finger protein 113A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAA1serum amyloid A1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEPTIN9septin 9 | Nogle gange (5–29 %) | I 2 tilstande |
| SIL1SIL1 nucleotide exchange factor | Nogle gange (5–29 %) | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPG21SPG21 abhydrolase domain containing, maspardin | Nogle gange (5–29 %) | I 1 tilstand |
| STX11syntaxin 11 | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP2syntaxin binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TARS1threonyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Nogle gange (5–29 %) | I 1 tilstand |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Nogle gange (5–29 %) | I 1 tilstand |
| TNFRSF1BTNF receptor superfamily member 1B | Nogle gange (5–29 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Nogle gange (5–29 %) | I 1 tilstand |
| UNC13Dunc-13 homolog D | Nogle gange (5–29 %) | I 1 tilstand |
| WASWASP actin nucleation promoting factor | Nogle gange (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Nogle gange (5–29 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Sjældent (1–4%) | I 1 tilstand |
| FA2Hfatty acid 2-hydroxylase | Sjældent (1–4%) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Sjældent (1–4%) | I 1 tilstand |
| GJB2gap junction protein beta 2 | Sjældent (1–4%) | I 1 tilstand |
| GJB6gap junction protein beta 6 | Sjældent (1–4%) | I 1 tilstand |
| KIF1Ckinesin family member 1C | Sjældent (1–4%) | I 1 tilstand |
| LDB3LIM domain binding 3 | Sjældent (1–4%) | I 1 tilstand |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Sjældent (1–4%) | I 1 tilstand |
| TTBK2tau tubulin kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| TTRtransthyretin | Sjældent (1–4%) | I 3 tilstande |
| AGXTalanine--glyoxylate aminotransferase | Ikke registreret | I 1 tilstand |
| ARandrogen receptor | Ikke registreret | I 1 tilstand |
| ATXN8ataxin 8 | Ikke registreret | I 1 tilstand |
| ATXN8OSATXN8 opposite strand lncRNA | Ikke registreret | I 1 tilstand |
| COX6A1cytochrome c oxidase subunit 6A1 | Ikke registreret | I 1 tilstand |
| CPOXcoproporphyrinogen oxidase | Ikke registreret | I 1 tilstand |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Ikke registreret | I 1 tilstand |
| GARS1glycyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| GJB1gap junction protein beta 1 | Ikke registreret | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| HK1hexokinase 1 | Ikke registreret | I 1 tilstand |
| HSPB1heat shock protein family B (small) member 1 | Ikke registreret | I 1 tilstand |
| HSPB3heat shock protein family B (small) member 3 | Ikke registreret | I 1 tilstand |
| KIF1Akinesin family member 1A | Ikke registreret | I 2 tilstande |
| KIF1Bkinesin family member 1B | Ikke registreret | I 1 tilstand |
| MAGmyelin associated glycoprotein | Ikke registreret | I 1 tilstand |
| MFFmitochondrial fission factor | Ikke registreret | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ikke registreret | I 1 tilstand |
| MPZmyelin protein zero | Ikke registreret | I 1 tilstand |
| NAGLUN-acetyl-alpha-glucosaminidase | Ikke registreret | I 1 tilstand |
| PDK3pyruvate dehydrogenase kinase 3 | Ikke registreret | I 1 tilstand |
| PPOXprotoporphyrinogen oxidase | Ikke registreret | I 1 tilstand |
| RAB7ARAB7A, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RETREG1reticulophagy regulator 1 | Ikke registreret | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registreret | I 1 tilstand |
| SLC5A6solute carrier family 5 member 6 | Ikke registreret | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Ikke registreret | I 1 tilstand |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Ikke registreret | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Ikke registreret | I 1 tilstand |
| TGM6transglutaminase 6 | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TXN2thioredoxin 2 | Ikke registreret | I 1 tilstand |
| WNK1WNK lysine deficient protein kinase 1 | 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.
Snævrere træk
- Peripheral axonal neuropathy144 gener
- Nerve damage causing decreased feeling and movement107 gener
- Peripheral nerve disease75 gener
- Damage to nerves that sense feeling59 gener
- Demyelinating peripheral neuropathy58 gener
- Motor polyneuropathy27 gener
- Mixed demyelinating and axonal polyneuropathy19 gener
- Progressive peripheral neuropathy5 gener
- Acute episodes of neuropathic symptoms4 gener
- Single damaged nerve2 gener
- Chronic sensorineural polyneuropathy1 gen
- Entrapment neuropathy1 gen
- Episodic peripheral neuropathy1 gen
Bredere træk
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.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger