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Požymis
Distal muscle wasting
Klinikinis pavadinimas: Distal amyotrophy
Muscular atrophy affecting muscles in the distal portions of the extremities.
Santrauka
- Taip pat vadinama
- Amyotrophy of distal limb muscles, Distal amyotrophy, especially of the hands and feet, Distal limb muscle atrophy, Distal muscle atrophy, Distal muscle atrophy, upper and lower limbs, Distal muscle degeneration, Distal muscular atrophy, Muscle atrophy, distal
- Kūno sistema
- Abnormality of the musculoskeletal system
Distal muscle wastingHP:0003693
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Read the genes linked to Distal muscle wasting, and the rest of your genome, with one test.
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Įsigyti savo Genome Test163 genų susiję su Distal muscle wasting
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Distal muscle wasting. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ADCY6adenylate cyclase 6 | Visada | 1 ligoje |
| ADSS1adenylosuccinate synthase 1 | Visada | 1 ligoje |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 2 ligose |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Visada | 1 ligoje |
| APTXaprataxin | Visada | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Visada | 3 ligose |
| CCT5chaperonin containing TCP1 subunit 5 | Visada | 2 ligose |
| CHP1calcineurin like EF-hand protein 1 | Visada | 1 ligoje |
| COA7cytochrome c oxidase assembly factor 7 | Visada | 1 ligoje |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| DNM2dynamin 2 | Visada | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Visada | 4 ligose |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Visada | 1 ligoje |
| KIF1Bkinesin family member 1B | Visada | 1 ligoje |
| LRP12LDL receptor related protein 12 | Visada | 2 ligose |
| MARS1methionyl-tRNA synthetase 1 | Visada | 1 ligoje |
| MFN2mitofusin 2 | Visada | 2 ligose |
| MPZmyelin protein zero | Visada | 8 ligose |
| MTMR2myotubularin related protein 2 | Visada | 1 ligoje |
| MYH14myosin heavy chain 14 | Visada | 1 ligoje |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NEFLneurofilament light chain | Visada | 3 ligose |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Visada | 1 ligoje |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Visada | 1 ligoje |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Visada | 2 ligose |
| PMP2peripheral myelin protein 2 | Visada | 1 ligoje |
| PMP22peripheral myelin protein 22 | Visada | 6 ligose |
| SCO2synthesis of cytochrome C oxidase 2 | Visada | 1 ligoje |
| SETXsenataxin | Visada | 2 ligose |
| SIGMAR1sigma receptor chaperone 1 | Visada | 2 ligose |
| SLC25A21solute carrier family 25 member 21 | Visada | 1 ligoje |
| SPARTspartin | Visada | 2 ligose |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Visada | 3 ligose |
| TBCEtubulin folding cofactor E | Visada | 2 ligose |
| TBCKTBC1 domain containing kinase | Visada | 1 ligoje |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Visada | 2 ligose |
| YARS1tyrosyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Labai dažnai (80–99%) | 2 ligose |
| ATP13A2ATPase cation transporting 13A2 | Labai dažnai (80–99%) | 1 ligoje |
| ERLIN1ER lipid raft associated 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 123 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FBLN5fibulin 5 | Labai dažnai (80–99%) | 1 ligoje |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| FUSFUS RNA binding protein | Labai dažnai (80–99%) | 2 ligose |
| GDAP1ganglioside induced differentiation associated protein 1 | Labai dažnai (80–99%) | 5 ligose |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 2 ligose |
| KIF1Akinesin family member 1A | Labai dažnai (80–99%) | 2 ligose |
| KLC2kinesin light chain 2 | Labai dažnai (80–99%) | 2 ligose |
| PTRH2peptidyl-tRNA hydrolase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Labai dažnai (80–99%) | 2 ligose |
| SORDsorbitol dehydrogenase | Labai dažnai (80–99%) | 1 ligoje |
| SPTBN4spectrin beta, non-erythrocytic 4 | Labai dažnai (80–99%) | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Labai dažnai (80–99%) | 2 ligose |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Labai dažnai (80–99%) | 2 ligose |
| TRMT2BtRNA methyltransferase 2B | Labai dažnai (80–99%) | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Labai dažnai (80–99%) | 2 ligose |
| UBQLN2ubiquilin 2 | Labai dažnai (80–99%) | 2 ligose |
| ZBTB20zinc finger and BTB domain containing 20 | Labai dažnai (80–99%) | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Labai dažnai (80–99%) | 2 ligose |
| ANGangiogenin | Dažnai (30–79%) | 2 ligose |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| ATXN2ataxin 2 | Dažnai (30–79%) | 2 ligose |
| C19orf12chromosome 19 open reading frame 12 | Dažnai (30–79%) | 2 ligose |
| CADM3cell adhesion molecule 3 | Dažnai (30–79%) | 1 ligoje |
| CCNFcyclin F | Dažnai (30–79%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Dažnai (30–79%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Dažnai (30–79%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Dažnai (30–79%) | 1 ligoje |
| COASYCoenzyme A synthase | Dažnai (30–79%) | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 2 ligose |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HK1hexokinase 1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 2 ligose |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 1 ligoje |
| KIF1Ckinesin family member 1C | Dažnai (30–79%) | 2 ligose |
| LMNAlamin A/C | Dažnai (30–79%) | 3 ligose |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MMEmembrane metalloendopeptidase | Dažnai (30–79%) | 2 ligose |
| MORC2MORC family CW-type zinc finger 2 | Dažnai (30–79%) | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Dažnai (30–79%) | 1 ligoje |
| MYOTmyotilin | Dažnai (30–79%) | 2 ligose |
| NDRG1N-myc downstream regulated 1 | Dažnai (30–79%) | 1 ligoje |
| NEFHneurofilament heavy chain | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| NEMFnuclear export mediator factor | Dažnai (30–79%) | 1 ligoje |
| NOTCH2NLCnotch 2 N-terminal like C | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Dažnai (30–79%) | 3 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| REEP1receptor accessory protein 1 | Dažnai (30–79%) | 2 ligose |
| SBF2SET binding factor 2 | Dažnai (30–79%) | 1 ligoje |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Dažnai (30–79%) | 1 ligoje |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Dažnai (30–79%) | 1 ligoje |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Dažnai (30–79%) | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Dažnai (30–79%) | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Dažnai (30–79%) | 1 ligoje |
| SMN2survival of motor neuron 2, centromeric | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 1 ligoje |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| SYT2synaptotagmin 2 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Dažnai (30–79%) | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Dažnai (30–79%) | 1 ligoje |
| TWNKtwinkle mtDNA helicase | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 3 ligose |
| VCPvalosin containing protein | Dažnai (30–79%) | 3 ligose |
| VPS13Avacuolar protein sorting 13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Dažnai (30–79%) | 1 ligoje |
| ANO5anoctamin 5 | Kartais (5–29%) | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Kartais (5–29%) | 1 ligoje |
| ATL1atlastin GTPase 1 | Kartais (5–29%) | 1 ligoje |
| ATL3atlastin GTPase 3 | Kartais (5–29%) | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Kartais (5–29%) | 1 ligoje |
| SACSsacsin molecular chaperone | Kartais (5–29%) | 2 ligose |
| SLC25A46solute carrier family 25 member 46 | Kartais (5–29%) | 1 ligoje |
| SPASTspastin | Kartais (5–29%) | 1 ligoje |
| STUB1STIP1 homology and U-box containing protein 1 | Kartais (5–29%) | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | Kartais (5–29%) | 2 ligose |
| ABCA1ATP binding cassette subfamily A member 1 | Neužfiksuota | 1 ligoje |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Neužfiksuota | 1 ligoje |
| ACTN2actinin alpha 2 | Neužfiksuota | 1 ligoje |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Neužfiksuota | 1 ligoje |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| ATXN1ataxin 1 | Neužfiksuota | 1 ligoje |
| ATXN3ataxin 3 | Neužfiksuota | 1 ligoje |
| DCAF8DDB1 and CUL4 associated factor 8 | Neužfiksuota | 1 ligoje |
| DOK7docking protein 7 | Neužfiksuota | 1 ligoje |
| DYSFdysferlin | Neužfiksuota | 1 ligoje |
| EGR2early growth response 2 | Neužfiksuota | 3 ligose |
| GANgigaxonin | Neužfiksuota | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Neužfiksuota | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Neužfiksuota | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Neužfiksuota | 1 ligoje |
| JPH1junctophilin 1 | Neužfiksuota | 1 ligoje |
| LITAFlipopolysaccharide induced TNF factor | Neužfiksuota | 1 ligoje |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Neužfiksuota | 1 ligoje |
| MED25mediator complex subunit 25 | Neužfiksuota | 1 ligoje |
| MPV17mitochondrial inner membrane protein MPV17 | Neužfiksuota | 1 ligoje |
| MRE11MRE11 double strand break repair nuclease | Neužfiksuota | 1 ligoje |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Neužfiksuota | 1 ligoje |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Neužfiksuota | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 1 ligoje |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Neužfiksuota | 1 ligoje |
| PRXperiaxin | Neužfiksuota | 2 ligose |
| RAB7ARAB7A, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SLC5A7solute carrier family 5 member 7 | Neužfiksuota | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Neužfiksuota | 1 ligoje |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Neužfiksuota | 1 ligoje |
| TYMPthymidine phosphorylase | Neužfiksuota | 1 ligoje |
| VPS13Dvacuolar protein sorting 13 homolog D | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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