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Trait
Proximal neurogenic muscle weakness
Clinical name: Proximal muscle weakness
A lack of strength of the proximal muscles.
Summary
- Also called
- Weakness in muscles of upper arms and upper legs, Muscle weakness, proximal, Proximal limb muscle weakness, Proximal limb weakness
- Body system
- Abnormality of the musculoskeletal system
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library(jsonlite)
url <- "https://dantelabs.com/traits/proximal-muscle-weakness.json"
page <- fromJSON(url)
page$trait$nameProximal neurogenic muscle weaknessHP:0003701
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Get my Genome Test192 genes linked to Proximal neurogenic muscle weakness
Changes in these genes cause rare conditions in which Proximal neurogenic muscle weakness is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Always | In 1 condition |
| ASAH1N-acylsphingosine amidohydrolase 1 | Always | In 1 condition |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Always | In 1 condition |
| BIN1bridging integrator 1 | Always | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Always | In 1 condition |
| CAV3caveolin 3 | Always | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Always | In 2 conditions |
| COL12A1collagen type XII alpha 1 chain | Always | In 2 conditions |
| COL6A1collagen type VI alpha 1 chain | Always | In 2 conditions |
| COL6A2collagen type VI alpha 2 chain | Always | In 3 conditions |
| CPT1Ccarnitine palmitoyltransferase 1C | Always | In 1 condition |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Always | In 2 conditions |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Always | In 1 condition |
| DYSFdysferlin | Always | In 2 conditions |
| EGR2early growth response 2 | Always | In 1 condition |
| FBXO38F-box protein 38 | Always | In 1 condition |
| FDX2ferredoxin 2 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| FHL1four and a half LIM domains 1 | Always | In 4 conditions |
| FKRPfukutin related protein | Always | In 4 conditions |
| FKTNfukutin | Always | In 2 conditions |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Always | In 2 conditions |
| GUK1guanylate kinase 1 | Always | In 1 condition |
| GYS1glycogen synthase 1 | Always | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Always | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Always | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 3 conditions |
| LRIF1ligand dependent nuclear receptor interacting factor 1 | Always | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 2 conditions |
| MICU1mitochondrial calcium uptake 1 | Always | In 2 conditions |
| MPZmyelin protein zero | Always | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Always | In 1 condition |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Always | In 1 condition |
| NDRG1N-myc downstream regulated 1 | Always | In 2 conditions |
| NUTM2B-AS1NUTM2B antisense RNA 1 | Always | In 1 condition |
| PABPN1poly(A) binding protein nuclear 1 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 2 conditions |
Show 152 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PNPLA8patatin like domain 8, phospholipase A2 | Always | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Always | In 4 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Always | In 3 conditions |
| PREPLprolyl endopeptidase like | Always | In 1 condition |
| PRXperiaxin | Always | In 1 condition |
| RYR1ryanodine receptor 1 | Always | In 4 conditions |
| RYR3ryanodine receptor 3 | Always | In 1 condition |
| SGCAsarcoglycan alpha | Always | In 2 conditions |
| SGCDsarcoglycan delta | Always | In 1 condition |
| SLC25A21solute carrier family 25 member 21 | Always | In 1 condition |
| SLC25A42solute carrier family 25 member 42 | Always | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Always | In 2 conditions |
| SMN2survival of motor neuron 2, centromeric | Always | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Always | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Always | In 3 conditions |
| TAMM41TAM41 mitochondrial translocator assembly and maintenance homolog | Always | In 1 condition |
| TK2thymidine kinase 2 | Always | In 2 conditions |
| TMEM43transmembrane protein 43 | Always | In 1 condition |
| TOP3ADNA topoisomerase III alpha | Always | In 2 conditions |
| TRIM32tripartite motif containing 32 | Always | In 1 condition |
| TRIM63tripartite motif containing 63 | Always | In 1 condition |
| TTNtitin | Always | In 3 conditions |
| VCPvalosin containing protein | Always | In 5 conditions |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 2 conditions |
| ANO5anoctamin 5 | Very often (80–99%) | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Very often (80–99%) | In 1 condition |
| DMDdystrophin | Very often (80–99%) | In 2 conditions |
| GANgigaxonin | Very often (80–99%) | In 2 conditions |
| HMGCS13-hydroxy-3-methylglutaryl-CoA synthase 1 | Very often (80–99%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Very often (80–99%) | In 1 condition |
| LAMB2laminin subunit beta 2 | Very often (80–99%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| MYOTmyotilin | Very often (80–99%) | In 2 conditions |
| UNC45Bunc-45 myosin chaperone B | Very often (80–99%) | In 1 condition |
| VAPBVAMP associated protein B and C | Very often (80–99%) | In 2 conditions |
| ACADMacyl-CoA dehydrogenase medium chain | Often (30–79%) | In 1 condition |
| AGRNagrin | Often (30–79%) | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Often (30–79%) | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Often (30–79%) | In 2 conditions |
| ARMC5armadillo repeat containing 5 | Often (30–79%) | In 1 condition |
| BAG3BAG cochaperone 3 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 1 condition |
| CAPN3calpain 3 | Often (30–79%) | In 2 conditions |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 2 conditions |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| COQ8Acoenzyme Q8A | Often (30–79%) | In 2 conditions |
| DNM2dynamin 2 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 2 conditions |
| GAAalpha glucosidase | Often (30–79%) | In 2 conditions |
| GDAP1ganglioside induced differentiation associated protein 1 | Often (30–79%) | In 2 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 3 conditions |
| GNASGNAS complex locus | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| HK1hexokinase 1 | Often (30–79%) | In 1 condition |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Often (30–79%) | In 1 condition |
| KDM1Alysine demethylase 1A | Often (30–79%) | In 1 condition |
| LRP12LDL receptor related protein 12 | Often (30–79%) | In 1 condition |
| MLIPmuscular LMNA interacting protein | Often (30–79%) | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 2 conditions |
| MTMR14myotubularin related protein 14 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 2 conditions |
| MYL1myosin light chain 1 | Often (30–79%) | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Often (30–79%) | In 1 condition |
| NEFLneurofilament light chain | Often (30–79%) | In 2 conditions |
| OPA1OPA1 mitochondrial dynamin like GTPase | Often (30–79%) | In 1 condition |
| POLR3GLRNA polymerase III subunit GL | Often (30–79%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 2 conditions |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Often (30–79%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Often (30–79%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 1 condition |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| STIM1stromal interaction molecule 1 | Often (30–79%) | In 2 conditions |
| SYT2synaptotagmin 2 | Often (30–79%) | In 1 condition |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 2 conditions |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Often (30–79%) | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Often (30–79%) | In 2 conditions |
| TPM2tropomyosin 2 | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 2 conditions |
| TRDNtriadin | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 3 conditions |
| UBA1ubiquitin like modifier activating enzyme 1 | Often (30–79%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ATP13A2ATPase cation transporting 13A2 | Sometimes (5–29%) | In 1 condition |
| ATXN1ataxin 1 | Sometimes (5–29%) | In 1 condition |
| BTNL2butyrophilin like 2 | Sometimes (5–29%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Sometimes (5–29%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sometimes (5–29%) | In 1 condition |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Sometimes (5–29%) | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| LIPElipase E, hormone sensitive type | Sometimes (5–29%) | In 1 condition |
| MORC2MORC family CW-type zinc finger 2 | Sometimes (5–29%) | In 3 conditions |
| MYH14myosin heavy chain 14 | Sometimes (5–29%) | In 1 condition |
| NEFHneurofilament heavy chain | Sometimes (5–29%) | In 1 condition |
| POLRMTRNA polymerase mitochondrial | Sometimes (5–29%) | In 1 condition |
| RRM1ribonucleotide reductase catalytic subunit M1 | Sometimes (5–29%) | In 1 condition |
| SIGMAR1sigma receptor chaperone 1 | Sometimes (5–29%) | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC52A3solute carrier family 52 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Sometimes (5–29%) | In 1 condition |
| SORDsorbitol dehydrogenase | Sometimes (5–29%) | In 1 condition |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Sometimes (5–29%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Sometimes (5–29%) | In 1 condition |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Sometimes (5–29%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Sometimes (5–29%) | In 1 condition |
| TNXBtenascin XB | Sometimes (5–29%) | In 1 condition |
| TRMT2BtRNA methyltransferase 2B | Sometimes (5–29%) | In 1 condition |
| UBQLN2ubiquilin 2 | Sometimes (5–29%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Rarely (1–4%) | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 2 conditions |
| CASQ1calsequestrin 1 | Not recorded | In 1 condition |
| CAVIN1caveolae associated protein 1 | Not recorded | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| FLAD1flavin adenine dinucleotide synthetase 1 | Not recorded | In 1 condition |
| FLNCfilamin C | Not recorded | In 2 conditions |
| FXR1FMR1 autosomal homolog 1 | Not recorded | In 1 condition |
| INPP5Kinositol polyphosphate-5-phosphatase K | Not recorded | In 1 condition |
| JPH1junctophilin 1 | Not recorded | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Not recorded | In 1 condition |
| MTAPmethylthioadenosine phosphorylase | Not recorded | In 1 condition |
| MTMR2myotubularin related protein 2 | Not recorded | In 1 condition |
| MYBPC1myosin binding protein C1 | Not recorded | In 1 condition |
| MYH2myosin heavy chain 2 | Not recorded | In 1 condition |
| NEBnebulin | Not recorded | In 1 condition |
| OATornithine aminotransferase | Not recorded | In 1 condition |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Not recorded | In 2 conditions |
| PLECplectin | Not recorded | In 1 condition |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Not recorded | In 1 condition |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Not recorded | In 1 condition |
| POPDC1popeye domain cAMP effector 1 | Not recorded | In 1 condition |
| POPDC3popeye domain cAMP effector 3 | Not recorded | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Not recorded | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Not recorded | In 1 condition |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Not recorded | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Not recorded | In 1 condition |
| TFGtrafficking from ER to golgi regulator | Not recorded | In 1 condition |
| TPM3tropomyosin 3 | Not recorded | In 2 conditions |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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