Požymis
Lower limb muscle weakness
Weakness of the muscles of the legs.
Santrauka
- Taip pat vadinama
- Leg weakness, Lower extremity weakness, Lower limb weakness, Muscle weakness in lower limbs
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Lower limb muscle weakness, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test172 genų susiję su Lower limb muscle weakness
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Lower limb muscle weakness. 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 |
|---|---|---|
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Visada | 2 ligose |
| ARHGAP19Rho GTPase activating protein 19 | Visada | 1 ligoje |
| ATL1atlastin GTPase 1 | Visada | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Visada | 1 ligoje |
| CFL2cofilin 2 | Visada | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Visada | 1 ligoje |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Visada | 1 ligoje |
| DSTYKdual serine/threonine and tyrosine protein kinase | Visada | 1 ligoje |
| EIF2B2eukaryotic translation initiation factor 2B subunit beta | Visada | 1 ligoje |
| EIF2B3eukaryotic translation initiation factor 2B subunit gamma | Visada | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Visada | 2 ligose |
| EXTL3exostosin like glycosyltransferase 3 | Visada | 1 ligoje |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| FDX2ferredoxin 2 | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| GAAalpha glucosidase | Visada | 1 ligoje |
| GARS1glycyl-tRNA synthetase 1 | Visada | 1 ligoje |
| GBA2glucosylceramidase beta 2 | Visada | 1 ligoje |
| HSPB8heat shock protein family B (small) member 8 | Visada | 1 ligoje |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| KIF5Akinesin family member 5A | Visada | 2 ligose |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| KPNA3karyopherin subunit alpha 3 | Visada | 2 ligose |
| MTRFRmitochondrial translation release factor in rescue | Visada | 3 ligose |
| NDC1NDC1 transmembrane nucleoporin | Visada | 1 ligoje |
| NEFHneurofilament heavy chain | Visada | 2 ligose |
| NEFLneurofilament light chain | Visada | 3 ligose |
| PDXKpyridoxal kinase | Visada | 1 ligoje |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Visada | 1 ligoje |
| PI4KAphosphatidylinositol 4-kinase alpha | Visada | 1 ligoje |
| REEP1receptor accessory protein 1 | Visada | 1 ligoje |
| RETREG1reticulophagy regulator 1 | Visada | 1 ligoje |
| RTN2reticulon 2 | Visada | 2 ligose |
| SBF1SET binding factor 1 | Visada | 1 ligoje |
| SIGMAR1sigma receptor chaperone 1 | Visada | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Visada | 1 ligoje |
| SMN1survival of motor neuron 1, telomeric | Visada | 1 ligoje |
| SMN2survival of motor neuron 2, centromeric | Visada | 1 ligoje |
| SPARTspartin | Visada | 1 ligoje |
Rodyti dar 132 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Visada | 1 ligoje |
| TPM2tropomyosin 2 | Visada | 2 ligose |
| ASAH1N-acylsphingosine amidohydrolase 1 | Labai dažnai (80–99%) | 1 ligoje |
| B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Labai dažnai (80–99%) | 1 ligoje |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Labai dažnai (80–99%) | 2 ligose |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Labai dažnai (80–99%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Labai dažnai (80–99%) | 1 ligoje |
| HSPB1heat shock protein family B (small) member 1 | Labai dažnai (80–99%) | 1 ligoje |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| KCNJ18potassium inwardly rectifying channel subfamily J member 18 | Labai dažnai (80–99%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Labai dažnai (80–99%) | 2 ligose |
| MPV17mitochondrial inner membrane protein MPV17 | Labai dažnai (80–99%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Labai dažnai (80–99%) | 1 ligoje |
| PDK3pyruvate dehydrogenase kinase 3 | Labai dažnai (80–99%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Labai dažnai (80–99%) | 1 ligoje |
| PRNPprion protein (Kanno blood group) | Labai dažnai (80–99%) | 2 ligose |
| SBF2SET binding factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Labai dažnai (80–99%) | 2 ligose |
| TFGtrafficking from ER to golgi regulator | Labai dažnai (80–99%) | 1 ligoje |
| UBAP1ubiquitin associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Labai dažnai (80–99%) | 2 ligose |
| AARS1alanyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| ANGangiogenin | Dažnai (30–79%) | 1 ligoje |
| ANXA11annexin A11 | Dažnai (30–79%) | 1 ligoje |
| AP5Z1adaptor related protein complex 5 subunit zeta 1 | Dažnai (30–79%) | 2 ligose |
| ATXN2ataxin 2 | Dažnai (30–79%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Dažnai (30–79%) | 1 ligoje |
| CAPN1calpain 1 | Dažnai (30–79%) | 2 ligose |
| CAPN3calpain 3 | Dažnai (30–79%) | 2 ligose |
| CAV1caveolin 1 | 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 |
| COL25A1collagen type XXV alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| DAOD-amino acid oxidase | Dažnai (30–79%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Dažnai (30–79%) | 2 ligose |
| DDHD1DDHD domain containing 1 | Dažnai (30–79%) | 2 ligose |
| DGUOKdeoxyguanosine kinase | Dažnai (30–79%) | 1 ligoje |
| DYSFdysferlin | Dažnai (30–79%) | 2 ligose |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Dažnai (30–79%) | 1 ligoje |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FMR1fragile X messenger ribonucleoprotein 1 | Dažnai (30–79%) | 1 ligoje |
| FUSFUS RNA binding protein | Dažnai (30–79%) | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| GLE1GLE1 RNA export mediator | Dažnai (30–79%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Dažnai (30–79%) | 1 ligoje |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Dažnai (30–79%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Dažnai (30–79%) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Dažnai (30–79%) | 2 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Dažnai (30–79%) | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Dažnai (30–79%) | 1 ligoje |
| KIF1Akinesin family member 1A | Dažnai (30–79%) | 1 ligoje |
| L1CAML1 cell adhesion molecule | Dažnai (30–79%) | 1 ligoje |
| LIPElipase E, hormone sensitive type | Dažnai (30–79%) | 1 ligoje |
| MATR3matrin 3 | Dažnai (30–79%) | 1 ligoje |
| MPZmyelin protein zero | Dažnai (30–79%) | 1 ligoje |
| MRPS2mitochondrial ribosomal protein S2 | Dažnai (30–79%) | 1 ligoje |
| MYH14myosin heavy chain 14 | Dažnai (30–79%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Dažnai (30–79%) | 1 ligoje |
| OPTNoptineurin | Dažnai (30–79%) | 1 ligoje |
| PFN1profilin 1 | Dažnai (30–79%) | 1 ligoje |
| PMP22peripheral myelin protein 22 | Dažnai (30–79%) | 1 ligoje |
| PRPHperipherin | Dažnai (30–79%) | 1 ligoje |
| RFXAPregulatory factor X associated protein | Dažnai (30–79%) | 1 ligoje |
| RNF170ring finger protein 170 | Dažnai (30–79%) | 1 ligoje |
| RNF31ring finger protein 31 | Dažnai (30–79%) | 1 ligoje |
| SCO2synthesis of cytochrome C oxidase 2 | Dažnai (30–79%) | 2 ligose |
| SCYL2SCY1 like pseudokinase 2 | Dažnai (30–79%) | 1 ligoje |
| SLC33A1solute carrier family 33 member 1 | Dažnai (30–79%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Dažnai (30–79%) | 1 ligoje |
| SPASTspastin | Dažnai (30–79%) | 2 ligose |
| SPG21SPG21 abhydrolase domain containing, maspardin | Dažnai (30–79%) | 2 ligose |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Dažnai (30–79%) | 2 ligose |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Dažnai (30–79%) | 2 ligose |
| SQSTM1sequestosome 1 | Dažnai (30–79%) | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Dažnai (30–79%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Dažnai (30–79%) | 1 ligoje |
| TARDBPTAR DNA binding protein | 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 |
| TUBA4Atubulin alpha 4a | Dažnai (30–79%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Dažnai (30–79%) | 2 ligose |
| VCPvalosin containing protein | Dažnai (30–79%) | 2 ligose |
| VPS13Dvacuolar protein sorting 13 homolog D | Dažnai (30–79%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Kartais (5–29%) | 1 ligoje |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| GALCgalactosylceramidase | Kartais (5–29%) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Kartais (5–29%) | 1 ligoje |
| LPIN1lipin 1 | Kartais (5–29%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Kartais (5–29%) | 1 ligoje |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Kartais (5–29%) | 1 ligoje |
| MYPNmyopalladin | Kartais (5–29%) | 1 ligoje |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Kartais (5–29%) | 1 ligoje |
| NUP54nucleoporin 54 | Kartais (5–29%) | 1 ligoje |
| NUP62nucleoporin 62 | Kartais (5–29%) | 1 ligoje |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Kartais (5–29%) | 1 ligoje |
| PDGFBplatelet derived growth factor subunit B | Kartais (5–29%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Kartais (5–29%) | 2 ligose |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RAB3ARAB3A, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RASA1RAS p21 protein activator 1 | Kartais (5–29%) | 1 ligoje |
| RNASEH1ribonuclease H1 | Kartais (5–29%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Kartais (5–29%) | 1 ligoje |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Kartais (5–29%) | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TERTtelomerase reverse transcriptase | Kartais (5–29%) | 1 ligoje |
| TNNT1troponin T1, slow skeletal type | Kartais (5–29%) | 1 ligoje |
| TPM3tropomyosin 3 | Kartais (5–29%) | 1 ligoje |
| TRAF7TNF receptor associated factor 7 | Kartais (5–29%) | 1 ligoje |
| ABCD1ATP binding cassette subfamily D member 1 | Neužfiksuota | 1 ligoje |
| ATP5MC3ATP synthase membrane subunit c locus 3 | Neužfiksuota | 1 ligoje |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Neužfiksuota | 1 ligoje |
| DDHD2DDHD domain containing 2 | Neužfiksuota | 1 ligoje |
| FBXO38F-box protein 38 | Neužfiksuota | 1 ligoje |
| FHL1four and a half LIM domains 1 | Neužfiksuota | 1 ligoje |
| NF1neurofibromin 1 | Neužfiksuota | 1 ligoje |
| NIPA1NIPA magnesium transporter 1 | Neužfiksuota | 1 ligoje |
| PLP1proteolipid protein 1 | Neužfiksuota | 1 ligoje |
| ZFYVE26zinc finger FYVE-type containing 26 | 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.
Siauresni požymiai
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites