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Tunnus
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Kokkuvõte
- Teised nimetused
- Generalised muscle weakness, Generalised weakness, Generalized weakness, Muscle weakness, diffuse, Muscle weakness, generalised, Muscle weakness, generalized
- Kehasüsteem
- Abnormality of the musculoskeletal system
Generalized muscle weaknessHP:0003324
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Read the genes linked to Generalized muscle weakness, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test122 geeni on seotud tunnusega Generalized muscle weakness
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Generalized muscle weakness. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Alati | Esineb 5 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Alati | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Alati | Esineb 1 haiguses |
| FKRPfukutin related protein | Alati | Esineb 2 haiguses |
| FKTNfukutin | Alati | Esineb 2 haiguses |
| GAAalpha glucosidase | Alati | Esineb 2 haiguses |
| LMOD3leiomodin 3 | Alati | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Alati | Esineb 1 haiguses |
| MEGF10multiple EGF like domains 10 | Alati | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Alati | Esineb 1 haiguses |
| MYL2myosin light chain 2 | Alati | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Alati | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Alati | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Alati | Esineb 3 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 1 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Alati | Esineb 1 haiguses |
| TTNtitin | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 2 haiguses |
| VCPvalosin containing protein | Alati | Esineb 2 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANGangiogenin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANXA11annexin A11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CAPN3calpain 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CCNFcyclin F | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Väga sageli (80–99%) | Esineb 2 haiguses |
| COL6A3collagen type VI alpha 3 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Väga sageli (80–99%) | Esineb 2 haiguses |
| DAOD-amino acid oxidase | Väga sageli (80–99%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Väga sageli (80–99%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 82 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GLE1GLE1 RNA export mediator | Väga sageli (80–99%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MATR3matrin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEBnebulin | Väga sageli (80–99%) | Esineb 2 haiguses |
| NEFHneurofilament heavy chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OPTNoptineurin | Väga sageli (80–99%) | Esineb 1 haiguses |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PFN1profilin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPHperipherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Väga sageli (80–99%) | Esineb 4 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Väga sageli (80–99%) | Esineb 1 haiguses |
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Sageli (30–79%) | Esineb 1 haiguses |
| ACAD9acyl-CoA dehydrogenase family member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ACY1aminoacylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADCY5adenylate cyclase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| AGKacylglycerol kinase | Sageli (30–79%) | Esineb 1 haiguses |
| BAG3BAG cochaperone 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CCND1cyclin D1 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Sageli (30–79%) | Esineb 2 haiguses |
| COA8cytochrome c oxidase assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| HTThuntingtin | Sageli (30–79%) | Esineb 1 haiguses |
| IBA57iron-sulfur cluster assembly factor IBA57 | Sageli (30–79%) | Esineb 1 haiguses |
| MEN1menin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MYL1myosin light chain 1 | Sageli (30–79%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RANBP2RAN binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Sageli (30–79%) | Esineb 1 haiguses |
| SDHDsuccinate dehydrogenase complex subunit D | Sageli (30–79%) | Esineb 1 haiguses |
| SLC2A3solute carrier family 2 member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| ATP13A2ATPase cation transporting 13A2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DMDdystrophin | Mõnikord (5–29%) | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 2 haiguses |
| HADHBhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITGA7integrin subunit alpha 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLECplectin | Mõnikord (5–29%) | Esineb 2 haiguses |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNKDPNKD metallo-beta-lactamase domain containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRRT2proline rich transmembrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAPSNreceptor associated protein of the synapse | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 2 haiguses |
| SLC16A2solute carrier family 16 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC52A3solute carrier family 52 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA1ubiquitin like modifier activating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LDB3LIM domain binding 3 | Harva (1–4%) | Esineb 1 haiguses |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Pole registreeritud | Esineb 1 haiguses |
| CAVIN1caveolae associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CLCNKBchloride voltage-gated channel Kb | Pole registreeritud | Esineb 1 haiguses |
| FGF23fibroblast growth factor 23 | Pole registreeritud | Esineb 1 haiguses |
| FXYD2FXYD domain containing ion transport regulator 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Pole registreeritud | Esineb 1 haiguses |
| MTM1myotubularin 1 | Pole registreeritud | Esineb 1 haiguses |
| MYH2myosin heavy chain 2 | Pole registreeritud | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Pole registreeritud | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Pole registreeritud | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Pole registreeritud | Esineb 2 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Pole registreeritud | Esineb 1 haiguses |
| SLC12A1solute carrier family 12 member 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC12A3solute carrier family 12 member 3 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A4solute carrier family 25 member 4 | Pole registreeritud | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast