AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Santrauka
- Taip pat vadinama
- Generalised muscle weakness, Generalised weakness, Generalized weakness, Muscle weakness, diffuse, Muscle weakness, generalised, Muscle weakness, generalized
- Kūno sistema
- Abnormality of the musculoskeletal system
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/generalized-muscle-weakness.json"
page <- fromJSON(url)
page$trait$nameGeneralized muscle weaknessHP:0003324
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Generalized muscle weakness, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test122 genų susiję su Generalized muscle weakness
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Generalized 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Visada | 5 ligose |
| CHRNDcholinergic receptor nicotinic delta subunit | Visada | 1 ligoje |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| FKRPfukutin related protein | Visada | 2 ligose |
| FKTNfukutin | Visada | 2 ligose |
| GAAalpha glucosidase | Visada | 2 ligose |
| LMOD3leiomodin 3 | Visada | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Visada | 1 ligoje |
| MEGF10multiple EGF like domains 10 | Visada | 1 ligoje |
| MUSKmuscle associated receptor tyrosine kinase | Visada | 1 ligoje |
| MYL2myosin light chain 2 | Visada | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 1 ligoje |
| RNU12RNA, U12 small nuclear | Visada | 1 ligoje |
| RYR1ryanodine receptor 1 | Visada | 3 ligose |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Visada | 1 ligoje |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Visada | 1 ligoje |
| TTNtitin | Visada | 1 ligoje |
| UNC13Aunc-13 homolog A | Visada | 2 ligose |
| VCPvalosin containing protein | Visada | 2 ligose |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Labai dažnai (80–99%) | 1 ligoje |
| ANGangiogenin | Labai dažnai (80–99%) | 1 ligoje |
| ANXA11annexin A11 | Labai dažnai (80–99%) | 1 ligoje |
| ATXN2ataxin 2 | Labai dažnai (80–99%) | 1 ligoje |
| CAPN3calpain 3 | Labai dažnai (80–99%) | 1 ligoje |
| CCNFcyclin F | Labai dažnai (80–99%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Labai dažnai (80–99%) | 1 ligoje |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Labai dažnai (80–99%) | 1 ligoje |
| CHMP2Bcharged multivesicular body protein 2B | Labai dažnai (80–99%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Labai dažnai (80–99%) | 2 ligose |
| COL13A1collagen type XIII alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL6A1collagen type VI alpha 1 chain | Labai dažnai (80–99%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Labai dažnai (80–99%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Labai dažnai (80–99%) | 1 ligoje |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Labai dažnai (80–99%) | 2 ligose |
| DAOD-amino acid oxidase | Labai dažnai (80–99%) | 1 ligoje |
| DCTN1dynactin subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Labai dažnai (80–99%) | 1 ligoje |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Labai dažnai (80–99%) | 1 ligoje |
| FUSFUS RNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 82 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| GLE1GLE1 RNA export mediator | Labai dažnai (80–99%) | 1 ligoje |
| GLT8D1glycosyltransferase 8 domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Labai dažnai (80–99%) | 1 ligoje |
| KLHL41kelch like family member 41 | Labai dažnai (80–99%) | 1 ligoje |
| LAMB2laminin subunit beta 2 | Labai dažnai (80–99%) | 1 ligoje |
| LRP12LDL receptor related protein 12 | Labai dažnai (80–99%) | 1 ligoje |
| MATR3matrin 3 | Labai dažnai (80–99%) | 1 ligoje |
| NEBnebulin | Labai dažnai (80–99%) | 2 ligose |
| NEFHneurofilament heavy chain | Labai dažnai (80–99%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| OPTNoptineurin | Labai dažnai (80–99%) | 1 ligoje |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Labai dažnai (80–99%) | 1 ligoje |
| PFN1profilin 1 | Labai dažnai (80–99%) | 1 ligoje |
| PRPHperipherin | Labai dažnai (80–99%) | 1 ligoje |
| SOD1superoxide dismutase 1 | Labai dažnai (80–99%) | 1 ligoje |
| SQSTM1sequestosome 1 | Labai dažnai (80–99%) | 1 ligoje |
| TAF15TATA-box binding protein associated factor 15 | Labai dažnai (80–99%) | 1 ligoje |
| TARDBPTAR DNA binding protein | Labai dažnai (80–99%) | 1 ligoje |
| TBK1TANK binding kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| TPM3tropomyosin 3 | Labai dažnai (80–99%) | 4 ligose |
| TREM2triggering receptor expressed on myeloid cells 2 | Labai dažnai (80–99%) | 1 ligoje |
| UBQLN2ubiquilin 2 | Labai dažnai (80–99%) | 1 ligoje |
| VAPBVAMP associated protein B and C | Labai dažnai (80–99%) | 1 ligoje |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Dažnai (30–79%) | 1 ligoje |
| ACAD9acyl-CoA dehydrogenase family member 9 | Dažnai (30–79%) | 1 ligoje |
| ACY1aminoacylase 1 | Dažnai (30–79%) | 1 ligoje |
| ADCY5adenylate cyclase 5 | Dažnai (30–79%) | 1 ligoje |
| AGKacylglycerol kinase | Dažnai (30–79%) | 1 ligoje |
| BAG3BAG cochaperone 3 | Dažnai (30–79%) | 1 ligoje |
| CCND1cyclin D1 | Dažnai (30–79%) | 1 ligoje |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Dažnai (30–79%) | 2 ligose |
| COA8cytochrome c oxidase assembly factor 8 | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| HTThuntingtin | Dažnai (30–79%) | 1 ligoje |
| IBA57iron-sulfur cluster assembly factor IBA57 | Dažnai (30–79%) | 1 ligoje |
| MEN1menin 1 | Dažnai (30–79%) | 1 ligoje |
| MYL1myosin light chain 1 | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| RANBP2RAN binding protein 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 |
| SLC2A3solute carrier family 2 member 3 | Dažnai (30–79%) | 1 ligoje |
| YY1YY1 transcription factor | Dažnai (30–79%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| DMDdystrophin | Kartais (5–29%) | 1 ligoje |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 2 ligose |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Kartais (5–29%) | 1 ligoje |
| ITGA7integrin subunit alpha 7 | Kartais (5–29%) | 1 ligoje |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 2 ligose |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Kartais (5–29%) | 1 ligoje |
| PNKDPNKD metallo-beta-lactamase domain containing | Kartais (5–29%) | 1 ligoje |
| PRRT2proline rich transmembrane protein 2 | Kartais (5–29%) | 1 ligoje |
| RAPSNreceptor associated protein of the synapse | Kartais (5–29%) | 1 ligoje |
| SELENONselenoprotein N | Kartais (5–29%) | 2 ligose |
| SLC16A2solute carrier family 16 member 2 | Kartais (5–29%) | 1 ligoje |
| SLC52A3solute carrier family 52 member 3 | Kartais (5–29%) | 1 ligoje |
| TPM2tropomyosin 2 | Kartais (5–29%) | 1 ligoje |
| UBA1ubiquitin like modifier activating enzyme 1 | Kartais (5–29%) | 1 ligoje |
| LDB3LIM domain binding 3 | Retai (1–4 %) | 1 ligoje |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Neužfiksuota | 1 ligoje |
| CAVIN1caveolae associated protein 1 | Neužfiksuota | 1 ligoje |
| CLCNKBchloride voltage-gated channel Kb | Neužfiksuota | 1 ligoje |
| FGF23fibroblast growth factor 23 | Neužfiksuota | 1 ligoje |
| FXYD2FXYD domain containing ion transport regulator 2 | Neužfiksuota | 1 ligoje |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Neužfiksuota | 1 ligoje |
| MTM1myotubularin 1 | Neužfiksuota | 1 ligoje |
| MYH2myosin heavy chain 2 | Neužfiksuota | 1 ligoje |
| MYH7myosin heavy chain 7 | Neužfiksuota | 1 ligoje |
| PLA2G6phospholipase A2 group VI | Neužfiksuota | 1 ligoje |
| POLGDNA polymerase gamma, catalytic subunit | Neužfiksuota | 2 ligose |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Neužfiksuota | 1 ligoje |
| SLC12A1solute carrier family 12 member 1 | Neužfiksuota | 1 ligoje |
| SLC12A3solute carrier family 12 member 3 | Neužfiksuota | 1 ligoje |
| SLC25A4solute carrier family 25 member 4 | Neužfiksuota | 1 ligoje |
| TWNKtwinkle mtDNA helicase | 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.
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 2026.10.17-8666dff2.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites