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Trait
Progressive muscle weakness
Summary
- Also called
- Muscle weakness, progressive, Progressive muscular weakness
- 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/progressive-muscle-weakness.json"
page <- fromJSON(url)
page$trait$nameProgressive muscle weaknessHP:0003323
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Get my Genome Test64 genes linked to Progressive muscle weakness
Changes in these genes cause rare conditions in which Progressive 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| GGPS1geranylgeranyl diphosphate synthase 1 | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 1 condition |
| MIEF2mitochondrial elongation factor 2 | Always | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Always | In 1 condition |
| TNNT1troponin T1, slow skeletal type | Always | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Very often (80–99%) | In 2 conditions |
| ANO5anoctamin 5 | Very often (80–99%) | In 1 condition |
| DESdesmin | Very often (80–99%) | In 1 condition |
| DMDdystrophin | Very often (80–99%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Very often (80–99%) | In 1 condition |
| DUX4double homeobox 4 | Very often (80–99%) | In 1 condition |
| DUX4L1double homeobox 4 like 1 (pseudogene) | Very often (80–99%) | In 1 condition |
| FRG1FSHD region gene 1 | Very often (80–99%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Very often (80–99%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Very often (80–99%) | In 1 condition |
| LTBP4latent transforming growth factor beta binding protein 4 | Very often (80–99%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Very often (80–99%) | In 1 condition |
| MYL2myosin light chain 2 | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 2 conditions |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Very often (80–99%) | In 1 condition |
| PEX3peroxisomal biogenesis factor 3 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Very often (80–99%) | In 1 condition |
| PHKG1phosphorylase kinase catalytic subunit gamma 1 | Very often (80–99%) | In 1 condition |
| SELENONselenoprotein N | Very often (80–99%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Very often (80–99%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Very often (80–99%) | In 1 condition |
| TPM2tropomyosin 2 | Very often (80–99%) | In 1 condition |
| TPM3tropomyosin 3 | Very often (80–99%) | In 1 condition |
Show 24 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BIN1bridging integrator 1 | Often (30–79%) | In 1 condition |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| GOSR2golgi SNAP receptor complex member 2 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SPEGstriated muscle enriched protein kinase | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 1 condition |
| DOLKdolichol kinase | Sometimes (5–29%) | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Sometimes (5–29%) | In 1 condition |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| PHKBphosphorylase kinase regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Sometimes (5–29%) | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| LDB3LIM domain binding 3 | Not recorded | In 1 condition |
| PCNAproliferating cell nuclear antigen | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Not recorded | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Not recorded | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Not recorded | In 1 condition |
| PUS1pseudouridine synthase 1 | Not recorded | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Not recorded | In 1 condition |
| TPI1triosephosphate isomerase 1 | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | Not recorded | In 1 condition |
| VAPBVAMP associated protein B and C | 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.
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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 2026.10.17-8666dff2.
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