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Trait
Axial muscle weakness
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Summary
- Body system
- Abnormality of the musculoskeletal system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/axial-muscle-weakness.json"
page <- fromJSON(url)
page$trait$nameAxial muscle weaknessHP:0003327
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Read the genes linked to Axial muscle weakness, and the rest of your genome, with one test.
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Get my Genome Test54 genes linked to Axial muscle weakness
Changes in these genes cause rare conditions in which Axial 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 |
|---|---|---|
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Always | In 1 condition |
| COL13A1collagen type XIII alpha 1 chain | Always | In 2 conditions |
| COL6A1collagen type VI alpha 1 chain | Always | In 2 conditions |
| FDXRferredoxin reductase | Always | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Always | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 2 conditions |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Always | In 1 condition |
| MYL1myosin light chain 1 | Always | In 1 condition |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 2 conditions |
| TBCKTBC1 domain containing kinase | Always | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Always | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 3 conditions |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Very often (80–99%) | In 1 condition |
| DESdesmin | Very often (80–99%) | In 1 condition |
| DOK7docking protein 7 | Very often (80–99%) | In 1 condition |
| MBmyoglobin | Very often (80–99%) | In 1 condition |
| MYBPC1myosin binding protein C1 | Very often (80–99%) | In 1 condition |
| SNUPNsnurportin 1 | Very often (80–99%) | In 1 condition |
| BAG3BAG cochaperone 3 | Often (30–79%) | In 1 condition |
| CFL2cofilin 2 | Often (30–79%) | In 1 condition |
| CRYABcrystallin alpha B | Often (30–79%) | In 1 condition |
| KLHL40kelch like family member 40 | Often (30–79%) | In 1 condition |
| KLHL41kelch like family member 41 | Often (30–79%) | In 2 conditions |
| LMOD3leiomodin 3 | Often (30–79%) | In 2 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Often (30–79%) | In 1 condition |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Often (30–79%) | In 1 condition |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| MYMXmyomixer, myoblast fusion factor | Often (30–79%) | In 1 condition |
| NEBnebulin | Often (30–79%) | In 2 conditions |
| PABPN1poly(A) binding protein nuclear 1 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 3 conditions |
| SELENONselenoprotein N | Often (30–79%) | In 2 conditions |
| TPM2tropomyosin 2 | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 1 condition |
| UNC45Bunc-45 myosin chaperone B | Often (30–79%) | In 1 condition |
Show 14 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BICD2BICD cargo adaptor 2 | Sometimes (5–29%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Sometimes (5–29%) | In 1 condition |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sometimes (5–29%) | In 1 condition |
| FKRPfukutin related protein | Sometimes (5–29%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Sometimes (5–29%) | In 2 conditions |
| LAMB2laminin subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| RNASEH1ribonuclease H1 | Sometimes (5–29%) | In 1 condition |
| BIN1bridging integrator 1 | Not recorded | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Not recorded | In 1 condition |
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.
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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