Kenmerk
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.
Samenvatting
- Ook bekend als
- Peripheral nerve damage, Peripheral neuritis
- Lichaamssysteem
- Abnormality of the nervous system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Peripheral neuropathy voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ACER3alkaline ceramidase 3 | Altijd | In 1 aandoening |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Altijd | In 1 aandoening |
| BAG3BAG cochaperone 3 | Altijd | In 1 aandoening |
| C19orf12chromosome 19 open reading frame 12 | Altijd | In 1 aandoening |
| CADM3cell adhesion molecule 3 | Altijd | In 1 aandoening |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| DMXL2Dmx like 2 | Altijd | In 1 aandoening |
| DNAJC3DnaJ heat shock protein family (Hsp40) member C3 | Altijd | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| EGR2early growth response 2 | Altijd | In 2 aandoeningen |
| GDAP1ganglioside induced differentiation associated protein 1 | Altijd | In 1 aandoening |
| GTPBP2GTP binding protein 2 | Altijd | In 1 aandoening |
| HSPB8heat shock protein family B (small) member 8 | Altijd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Altijd | In 3 aandoeningen |
| INF2inverted formin 2 | Altijd | In 1 aandoening |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Altijd | In 1 aandoening |
| MFN2mitofusin 2 | Altijd | In 2 aandoeningen |
| NDC1NDC1 transmembrane nucleoporin | Altijd | In 1 aandoening |
| NGFnerve growth factor | Altijd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 3 aandoeningen |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Altijd | In 1 aandoening |
| PEX5peroxisomal biogenesis factor 5 | Altijd | In 1 aandoening |
| PNKPpolynucleotide kinase 3'-phosphatase | Altijd | In 2 aandoeningen |
| POLGDNA polymerase gamma, catalytic subunit | Altijd | In 5 aandoeningen |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Altijd | In 6 aandoeningen |
| PSAPprosaposin | Altijd | In 2 aandoeningen |
| REEP1receptor accessory protein 1 | Altijd | In 1 aandoening |
| RFC1replication factor C subunit 1 | Altijd | In 1 aandoening |
| RFC4replication factor C subunit 4 | Altijd | In 1 aandoening |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SCP2sterol carrier protein 2 | Altijd | In 1 aandoening |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altijd | In 1 aandoening |
| TYMPthymidine phosphorylase | Altijd | In 2 aandoeningen |
| ABCD1ATP binding cassette subfamily D member 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Heel vaak (80–99%) | In 1 aandoening |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Heel vaak (80–99%) | In 1 aandoening |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| APTXaprataxin | Heel vaak (80–99%) | In 1 aandoening |
| ATXN1ataxin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATXN3ataxin 3 | Heel vaak (80–99%) | In 2 aandoeningen |
Toon nog 231 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| CCT5chaperonin containing TCP1 subunit 5 | Heel vaak (80–99%) | In 1 aandoening |
| ELP1elongator acetyltransferase complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| GBE11,4-alpha-glucan branching enzyme 1 | Heel vaak (80–99%) | In 1 aandoening |
| GCLCglutamate-cysteine ligase catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| LYSTlysosomal trafficking regulator | Heel vaak (80–99%) | In 2 aandoeningen |
| MYOTmyotilin | Heel vaak (80–99%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Heel vaak (80–99%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Heel vaak (80–99%) | In 1 aandoening |
| PMP22peripheral myelin protein 22 | Heel vaak (80–99%) | In 3 aandoeningen |
| SCN10Asodium voltage-gated channel alpha subunit 10 | Heel vaak (80–99%) | In 1 aandoening |
| SCN11Asodium voltage-gated channel alpha subunit 11 | Heel vaak (80–99%) | In 1 aandoening |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Heel vaak (80–99%) | In 2 aandoeningen |
| TTPAalpha tocopherol transfer protein | Heel vaak (80–99%) | In 1 aandoening |
| ALADaminolevulinate dehydratase | Vaak (30–79%) | In 1 aandoening |
| ATP5F1AATP synthase F1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| ATP5F1DATP synthase F1 subunit delta | Vaak (30–79%) | In 1 aandoening |
| ATP5F1EATP synthase F1 subunit epsilon | Vaak (30–79%) | In 2 aandoeningen |
| ATP5MKATP synthase membrane subunit k | Vaak (30–79%) | In 1 aandoening |
| ATP5POATP synthase peripheral stalk subunit OSCP | Vaak (30–79%) | In 1 aandoening |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Vaak (30–79%) | In 1 aandoening |
| BORCS5BLOC-1 related complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| CAPN1calpain 1 | Vaak (30–79%) | In 2 aandoeningen |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Vaak (30–79%) | In 2 aandoeningen |
| DCAF17DDB1 and CUL4 associated factor 17 | Vaak (30–79%) | In 1 aandoening |
| ELOVL5ELOVL fatty acid elongase 5 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Vaak (30–79%) | In 1 aandoening |
| FMR1fragile X messenger ribonucleoprotein 1 | Vaak (30–79%) | In 2 aandoeningen |
| GALCgalactosylceramidase | Vaak (30–79%) | In 3 aandoeningen |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Vaak (30–79%) | In 3 aandoeningen |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Vaak (30–79%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| LIG3DNA ligase 3 | Vaak (30–79%) | In 1 aandoening |
| LRPPRCleucine rich pentatricopeptide repeat containing | Vaak (30–79%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 2 aandoeningen |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Vaak (30–79%) | In 2 aandoeningen |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Vaak (30–79%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Vaak (30–79%) | In 1 aandoening |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Vaak (30–79%) | In 1 aandoening |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Vaak (30–79%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Vaak (30–79%) | In 1 aandoening |
| MTHFRmethylenetetrahydrofolate reductase | Vaak (30–79%) | In 1 aandoening |
| MTRFRmitochondrial translation release factor in rescue | Vaak (30–79%) | In 1 aandoening |
| MYH14myosin heavy chain 14 | Vaak (30–79%) | In 2 aandoeningen |
| NAGAalpha-N-acetylgalactosaminidase | Vaak (30–79%) | In 2 aandoeningen |
| NARS1asparaginyl-tRNA synthetase 1 | Vaak (30–79%) | In 2 aandoeningen |
| NGLY1N-glycanase 1 | Vaak (30–79%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Vaak (30–79%) | In 1 aandoening |
| PLA2G6phospholipase A2 group VI | Vaak (30–79%) | In 1 aandoening |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 2 aandoeningen |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Vaak (30–79%) | In 1 aandoening |
| PRTN3proteinase 3 | Vaak (30–79%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Vaak (30–79%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Vaak (30–79%) | In 2 aandoeningen |
| RRM1ribonucleotide reductase catalytic subunit M1 | Vaak (30–79%) | In 1 aandoening |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Vaak (30–79%) | In 2 aandoeningen |
| SACSsacsin molecular chaperone | Vaak (30–79%) | In 1 aandoening |
| SCYL1SCY1 like pseudokinase 1 | Vaak (30–79%) | In 1 aandoening |
| SLC12A6solute carrier family 12 member 6 | Vaak (30–79%) | In 1 aandoening |
| SLC30A10solute carrier family 30 member 10 | Vaak (30–79%) | In 1 aandoening |
| SLC46A1solute carrier family 46 member 1 | Vaak (30–79%) | In 2 aandoeningen |
| SNAP29synaptosome associated protein 29 | Vaak (30–79%) | In 2 aandoeningen |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| TK2thymidine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TNXBtenascin XB | Vaak (30–79%) | In 1 aandoening |
| TOP3ADNA topoisomerase III alpha | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| ZFRzinc finger RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Soms (5–29%) | In 2 aandoeningen |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ADA2adenosine deaminase 2 | Soms (5–29%) | In 2 aandoeningen |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Soms (5–29%) | In 1 aandoening |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Soms (5–29%) | In 2 aandoeningen |
| ATL1atlastin GTPase 1 | Soms (5–29%) | In 2 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Soms (5–29%) | In 1 aandoening |
| BMP6bone morphogenetic protein 6 | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| CARS1cysteinyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| CBLIFcobalamin binding intrinsic factor | Soms (5–29%) | In 1 aandoening |
| CCND1cyclin D1 | Soms (5–29%) | In 1 aandoening |
| CD28CD28 molecule | Soms (5–29%) | In 1 aandoening |
| CD4CD4 molecule | Soms (5–29%) | In 1 aandoening |
| CISD2CDGSH iron sulfur domain 2 | Soms (5–29%) | In 1 aandoening |
| DBR1debranching RNA lariats 1 | Soms (5–29%) | In 1 aandoening |
| DDB2damage specific DNA binding protein 2 | Soms (5–29%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Soms (5–29%) | In 1 aandoening |
| DNASE1L3deoxyribonuclease 1L3 | Soms (5–29%) | In 1 aandoening |
| DNMT1DNA methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Soms (5–29%) | In 1 aandoening |
| DSTYKdual serine/threonine and tyrosine protein kinase | Soms (5–29%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Soms (5–29%) | In 3 aandoeningen |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Soms (5–29%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Soms (5–29%) | In 2 aandoeningen |
| FBN1fibrillin 1 | Soms (5–29%) | In 2 aandoeningen |
| FLNCfilamin C | Soms (5–29%) | In 1 aandoening |
| GTF2E2general transcription factor IIE subunit 2 | Soms (5–29%) | In 1 aandoening |
| GTF2H5general transcription factor IIH subunit 5 | Soms (5–29%) | In 1 aandoening |
| GUK1guanylate kinase 1 | Soms (5–29%) | In 1 aandoening |
| HADHhydroxyacyl-CoA dehydrogenase | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HFEhomeostatic iron regulator | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 2 aandoeningen |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Soms (5–29%) | In 1 aandoening |
| INSRinsulin receptor | Soms (5–29%) | In 1 aandoening |
| IRF4interferon regulatory factor 4 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MPC1mitochondrial pyruvate carrier 1 | Soms (5–29%) | In 1 aandoening |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| MPV17mitochondrial inner membrane protein MPV17 | Soms (5–29%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND4Lmitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L | Soms (5–29%) | In 1 aandoening |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Soms (5–29%) | In 1 aandoening |
| MTRR5-methyltetrahydrofolate-homocysteine methyltransferase reductase | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Soms (5–29%) | In 1 aandoening |
| NEFLneurofilament light chain | Soms (5–29%) | In 1 aandoening |
| NFU1NFU1 iron-sulfur cluster scaffold | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PEX1peroxisomal biogenesis factor 1 | Soms (5–29%) | In 1 aandoening |
| PEX16peroxisomal biogenesis factor 16 | Soms (5–29%) | In 1 aandoening |
| PEX6peroxisomal biogenesis factor 6 | Soms (5–29%) | In 1 aandoening |
| PHF6PHD finger protein 6 | Soms (5–29%) | In 1 aandoening |
| PLEKHG4pleckstrin homology and RhoGEF domain containing G4 | Soms (5–29%) | In 1 aandoening |
| PMM2phosphomannomutase 2 | Soms (5–29%) | In 1 aandoening |
| PMPCApeptidase, mitochondrial processing subunit alpha | Soms (5–29%) | In 1 aandoening |
| POLG2DNA polymerase gamma 2, accessory subunit | Soms (5–29%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Soms (5–29%) | In 2 aandoeningen |
| POLR3BRNA polymerase III subunit B | Soms (5–29%) | In 1 aandoening |
| PRF1perforin 1 | Soms (5–29%) | In 1 aandoening |
| RAB18RAB18, member RAS oncogene family | Soms (5–29%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Soms (5–29%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Soms (5–29%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Soms (5–29%) | In 1 aandoening |
| RNASEH1ribonuclease H1 | Soms (5–29%) | In 1 aandoening |
| RNF113Aring finger protein 113A | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| SAA1serum amyloid A1 | Soms (5–29%) | In 1 aandoening |
| SEPTIN9septin 9 | Soms (5–29%) | In 2 aandoeningen |
| SIL1SIL1 nucleotide exchange factor | Soms (5–29%) | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Soms (5–29%) | In 1 aandoening |
| SLC52A3solute carrier family 52 member 3 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| SPG21SPG21 abhydrolase domain containing, maspardin | Soms (5–29%) | In 1 aandoening |
| STX11syntaxin 11 | Soms (5–29%) | In 1 aandoening |
| STXBP2syntaxin binding protein 2 | Soms (5–29%) | In 1 aandoening |
| TARS1threonyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Soms (5–29%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Soms (5–29%) | In 1 aandoening |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Soms (5–29%) | In 1 aandoening |
| TNFRSF1BTNF receptor superfamily member 1B | Soms (5–29%) | In 1 aandoening |
| TWNKtwinkle mtDNA helicase | Soms (5–29%) | In 1 aandoening |
| UNC13Dunc-13 homolog D | Soms (5–29%) | In 1 aandoening |
| WASWASP actin nucleation promoting factor | Soms (5–29%) | In 1 aandoening |
| WFS1wolframin ER transmembrane glycoprotein | Soms (5–29%) | In 1 aandoening |
| XPAXPA, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Soms (5–29%) | In 1 aandoening |
| ADAT3adenosine deaminase tRNA specific 3 | Zelden (1–4%) | In 1 aandoening |
| FA2Hfatty acid 2-hydroxylase | Zelden (1–4%) | In 1 aandoening |
| GCDHglutaryl-CoA dehydrogenase | Zelden (1–4%) | In 1 aandoening |
| GJB2gap junction protein beta 2 | Zelden (1–4%) | In 1 aandoening |
| GJB6gap junction protein beta 6 | Zelden (1–4%) | In 1 aandoening |
| KIF1Ckinesin family member 1C | Zelden (1–4%) | In 1 aandoening |
| LDB3LIM domain binding 3 | Zelden (1–4%) | In 1 aandoening |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Zelden (1–4%) | In 1 aandoening |
| TTBK2tau tubulin kinase 2 | Zelden (1–4%) | In 1 aandoening |
| TTRtransthyretin | Zelden (1–4%) | In 3 aandoeningen |
| AGXTalanine--glyoxylate aminotransferase | Niet vastgelegd | In 1 aandoening |
| ARandrogen receptor | Niet vastgelegd | In 1 aandoening |
| ATXN8ataxin 8 | Niet vastgelegd | In 1 aandoening |
| ATXN8OSATXN8 opposite strand lncRNA | Niet vastgelegd | In 1 aandoening |
| COX6A1cytochrome c oxidase subunit 6A1 | Niet vastgelegd | In 1 aandoening |
| CPOXcoproporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Niet vastgelegd | In 1 aandoening |
| GARS1glycyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| GJB1gap junction protein beta 1 | Niet vastgelegd | In 1 aandoening |
| HARS1histidyl-tRNA synthetase 1 | Niet vastgelegd | In 1 aandoening |
| HK1hexokinase 1 | Niet vastgelegd | In 1 aandoening |
| HSPB1heat shock protein family B (small) member 1 | Niet vastgelegd | In 1 aandoening |
| HSPB3heat shock protein family B (small) member 3 | Niet vastgelegd | In 1 aandoening |
| KIF1Akinesin family member 1A | Niet vastgelegd | In 2 aandoeningen |
| KIF1Bkinesin family member 1B | Niet vastgelegd | In 1 aandoening |
| MAGmyelin associated glycoprotein | Niet vastgelegd | In 1 aandoening |
| MFFmitochondrial fission factor | Niet vastgelegd | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Niet vastgelegd | In 1 aandoening |
| MPZmyelin protein zero | Niet vastgelegd | In 1 aandoening |
| NAGLUN-acetyl-alpha-glucosaminidase | Niet vastgelegd | In 1 aandoening |
| PDK3pyruvate dehydrogenase kinase 3 | Niet vastgelegd | In 1 aandoening |
| PPOXprotoporphyrinogen oxidase | Niet vastgelegd | In 1 aandoening |
| RAB7ARAB7A, member RAS oncogene family | Niet vastgelegd | In 1 aandoening |
| RETREG1reticulophagy regulator 1 | Niet vastgelegd | In 1 aandoening |
| SGPL1sphingosine-1-phosphate lyase 1 | Niet vastgelegd | In 1 aandoening |
| SLC5A6solute carrier family 5 member 6 | Niet vastgelegd | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Niet vastgelegd | In 1 aandoening |
| SUCLA2succinate-CoA ligase ADP-forming subunit beta | Niet vastgelegd | In 1 aandoening |
| SURF1SURF1 cytochrome c oxidase assembly factor | Niet vastgelegd | In 1 aandoening |
| TGM6transglutaminase 6 | Niet vastgelegd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| TXN2thioredoxin 2 | Niet vastgelegd | In 1 aandoening |
| WNK1WNK lysine deficient protein kinase 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
- Peripheral axonal neuropathy144 genen
- Nerve damage causing decreased feeling and movement107 genen
- Peripheral nerve disease75 genen
- Damage to nerves that sense feeling59 genen
- Demyelinating peripheral neuropathy58 genen
- Motor polyneuropathy27 genen
- Mixed demyelinating and axonal polyneuropathy19 genen
- Progressive peripheral neuropathy5 genen
- Acute episodes of neuropathic symptoms4 genen
- Single damaged nerve2 genen
- Chronic sensorineural polyneuropathy1 gen
- Entrapment neuropathy1 gen
- Episodic peripheral neuropathy1 gen
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
Eén test. Een leven lang antwoorden.
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