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Træk
Proximal neurogenic muscle weakness
Klinisk navn: Proximal muscle weakness
A lack of strength of the proximal muscles.
Resumé
- Også kaldet
- Weakness in muscles of upper arms and upper legs, Muscle weakness, proximal, Proximal limb muscle weakness, Proximal limb weakness
- Kropssystem
- Abnormality of the musculoskeletal system
Proximal neurogenic muscle weaknessHP:0003701
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Read the genes linked to Proximal neurogenic muscle weakness, and the rest of your genome, with one test.
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Bestil min Genome Test192 gener knyttet til Proximal neurogenic muscle weakness
Ændringer i disse gener forårsager sjældne tilstande, hvor Proximal neurogenic muscle weakness ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Altid | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Altid | I 1 tilstand |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Altid | I 1 tilstand |
| BIN1bridging integrator 1 | Altid | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Altid | I 1 tilstand |
| CAV3caveolin 3 | Altid | I 1 tilstand |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Altid | I 2 tilstande |
| COL12A1collagen type XII alpha 1 chain | Altid | I 2 tilstande |
| COL6A1collagen type VI alpha 1 chain | Altid | I 2 tilstande |
| COL6A2collagen type VI alpha 2 chain | Altid | I 3 tilstande |
| CPT1Ccarnitine palmitoyltransferase 1C | Altid | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Altid | I 2 tilstande |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Altid | I 1 tilstand |
| DYSFdysferlin | Altid | I 2 tilstande |
| EGR2early growth response 2 | Altid | I 1 tilstand |
| FBXO38F-box protein 38 | Altid | I 1 tilstand |
| FDX2ferredoxin 2 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Altid | I 4 tilstande |
| FKRPfukutin related protein | Altid | I 4 tilstande |
| FKTNfukutin | Altid | I 2 tilstande |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Altid | I 2 tilstande |
| GUK1guanylate kinase 1 | Altid | I 1 tilstand |
| GYS1glycogen synthase 1 | Altid | I 1 tilstand |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Altid | I 1 tilstand |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Altid | I 2 tilstande |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 3 tilstande |
| LRIF1ligand dependent nuclear receptor interacting factor 1 | Altid | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Altid | I 1 tilstand |
| MEGF10multiple EGF like domains 10 | Altid | I 1 tilstand |
| MFN2mitofusin 2 | Altid | I 2 tilstande |
| MICU1mitochondrial calcium uptake 1 | Altid | I 2 tilstande |
| MPZmyelin protein zero | Altid | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Altid | I 1 tilstand |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Altid | I 1 tilstand |
| NDRG1N-myc downstream regulated 1 | Altid | I 2 tilstande |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Altid | I 1 tilstand |
| PABPN1poly(A) binding protein nuclear 1 | Altid | I 1 tilstand |
| PMP22peripheral myelin protein 22 | Altid | I 2 tilstande |
Vis 152 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PNPLA8patatin like domain 8, phospholipase A2 | Altid | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Altid | I 4 tilstande |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Altid | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 3 tilstande |
| PREPLprolyl endopeptidase like | Altid | I 1 tilstand |
| PRXperiaxin | Altid | I 1 tilstand |
| RYR1ryanodine receptor 1 | Altid | I 4 tilstande |
| RYR3ryanodine receptor 3 | Altid | I 1 tilstand |
| SGCAsarcoglycan alpha | Altid | I 2 tilstande |
| SGCDsarcoglycan delta | Altid | I 1 tilstand |
| SLC25A21solute carrier family 25 member 21 | Altid | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Altid | I 1 tilstand |
| SMN1survival of motor neuron 1, telomeric | Altid | I 2 tilstande |
| SMN2survival of motor neuron 2, centromeric | Altid | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Altid | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Altid | I 3 tilstande |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Altid | I 1 tilstand |
| TK2thymidine kinase 2 | Altid | I 2 tilstande |
| TMEM43transmembrane protein 43 | Altid | I 1 tilstand |
| TOP3ADNA topoisomerase III alpha | Altid | I 2 tilstande |
| TRIM32tripartite motif containing 32 | Altid | I 1 tilstand |
| TRIM63tripartite motif containing 63 | Altid | I 1 tilstand |
| TTNtitin | Altid | I 3 tilstande |
| VCPvalosin containing protein | Altid | I 5 tilstande |
| ACTA1actin alpha 1, skeletal muscle | Meget ofte (80–99 %) | I 2 tilstande |
| ANO5anoctamin 5 | Meget ofte (80–99 %) | I 1 tilstand |
| COL13A1collagen type XIII alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Meget ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Meget ofte (80–99 %) | I 2 tilstande |
| GANgigaxonin | Meget ofte (80–99 %) | I 2 tilstande |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Meget ofte (80–99 %) | I 1 tilstand |
| LAMB2laminin subunit beta 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| MYOTmyotilin | Meget ofte (80–99 %) | I 2 tilstande |
| UNC45Bunc-45 myosin chaperone B | Meget ofte (80–99 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Meget ofte (80–99 %) | I 2 tilstande |
| ACADMacyl-CoA dehydrogenase medium chain | Ofte (30–79 %) | I 1 tilstand |
| AGRNagrin | Ofte (30–79 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Ofte (30–79 %) | I 2 tilstande |
| ARMC5armadillo repeat containing 5 | Ofte (30–79 %) | I 1 tilstand |
| BAG3BAG cochaperone 3 | Ofte (30–79 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Ofte (30–79 %) | I 1 tilstand |
| CAPN3calpain 3 | Ofte (30–79 %) | I 2 tilstande |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 2 tilstande |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 2 tilstande |
| DNM2dynamin 2 | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| GAAalpha glucosidase | Ofte (30–79 %) | I 2 tilstande |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 3 tilstande |
| GNASGNAS complex locus | Ofte (30–79 %) | I 1 tilstand |
| GOSR2golgi SNAP receptor complex member 2 | Ofte (30–79 %) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HK1hexokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Ofte (30–79 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MLIPmuscular LMNA interacting protein | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstande |
| MTMR14myotubularin related protein 14 | Ofte (30–79 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Ofte (30–79 %) | I 2 tilstande |
| MYL1myosin light chain 1 | Ofte (30–79 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NEFLneurofilament light chain | Ofte (30–79 %) | I 2 tilstande |
| OPA1OPA1 mitochondrial dynamin like GTPase | Ofte (30–79 %) | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Ofte (30–79 %) | I 1 tilstand |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ofte (30–79 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Ofte (30–79 %) | I 1 tilstand |
| SDHDsuccinate dehydrogenase complex subunit D | Ofte (30–79 %) | I 1 tilstand |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Ofte (30–79 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Ofte (30–79 %) | I 2 tilstande |
| SYT2synaptotagmin 2 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 2 tilstande |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Ofte (30–79 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Ofte (30–79 %) | I 2 tilstande |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Ofte (30–79 %) | I 2 tilstande |
| TRDNtriadin | Ofte (30–79 %) | I 1 tilstand |
| TWNKtwinkle mtDNA helicase | Ofte (30–79 %) | I 3 tilstande |
| UBA1ubiquitin like modifier activating enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP13A2ATPase cation transporting 13A2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN1ataxin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ERLIN1ER lipid raft associated 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LIPElipase E, hormone sensitive type | Nogle gange (5–29 %) | I 1 tilstand |
| MORC2MORC family CW-type zinc finger 2 | Nogle gange (5–29 %) | I 3 tilstande |
| MYH14myosin heavy chain 14 | Nogle gange (5–29 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Nogle gange (5–29 %) | I 1 tilstand |
| POLRMTRNA polymerase mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| RRM1ribonucleotide reductase catalytic subunit M1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIGMAR1sigma receptor chaperone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC22A5solute carrier family 22 member 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SORDsorbitol dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SRPK3SRSF protein kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TNXBtenascin XB | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT2BtRNA methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| UBQLN2ubiquilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| VRK1VRK serine/threonine kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| ACTN2actinin alpha 2 | Ikke registreret | I 2 tilstande |
| CASQ1calsequestrin 1 | Ikke registreret | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ikke registreret | I 1 tilstand |
| COL9A3collagen type IX alpha 3 chain | Ikke registreret | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registreret | I 1 tilstand |
| FLAD1flavin adenine dinucleotide synthetase 1 | Ikke registreret | I 1 tilstand |
| FLNCfilamin C | Ikke registreret | I 2 tilstande |
| FXR1FMR1 autosomal homolog 1 | Ikke registreret | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Ikke registreret | I 1 tilstand |
| JPH1junctophilin 1 | Ikke registreret | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ikke registreret | I 1 tilstand |
| MTAPmethylthioadenosine phosphorylase | Ikke registreret | I 1 tilstand |
| MTMR2myotubularin related protein 2 | Ikke registreret | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Ikke registreret | I 1 tilstand |
| MYH2myosin heavy chain 2 | Ikke registreret | I 1 tilstand |
| NEBnebulin | Ikke registreret | I 1 tilstand |
| OATornithine aminotransferase | Ikke registreret | I 1 tilstand |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Ikke registreret | I 2 tilstande |
| PLECplectin | Ikke registreret | I 1 tilstand |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Ikke registreret | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ikke registreret | I 1 tilstand |
| POPDC1popeye domain cAMP effector 1 | Ikke registreret | I 1 tilstand |
| POPDC3popeye domain cAMP effector 3 | Ikke registreret | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ikke registreret | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ikke registreret | I 1 tilstand |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Ikke registreret | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Ikke registreret | I 1 tilstand |
| TPM3tropomyosin 3 | Ikke registreret | I 2 tilstande |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
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