Trait
Diffuse skeletal muscle wasting
Clinical name: Generalized amyotrophy
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
Summary
- Also called
- Generalized muscle degeneration, Muscle atrophy, generalized, Diffuse amyotrophy, Diffuse muscle atrophy, Diffuse muscle wasting, Generalised amyotrophy, Generalised muscle atrophy, Generalised muscle degeneration, Generalized muscle atrophy, Muscle atrophy, diffuse, Muscle atrophy, generalised, Muscular atrophy, generalised, Muscular atrophy, generalized
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test78 genes linked to Diffuse skeletal muscle wasting
Changes in these genes cause rare conditions in which Diffuse skeletal muscle wasting 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 |
|---|---|---|
| ACADSBacyl-CoA dehydrogenase short/branched chain | Always | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Always | In 1 condition |
| C2orf69chromosome 2 open reading frame 69 | Always | In 1 condition |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Always | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Always | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| JPH1junctophilin 1 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 3 conditions |
| MPV17mitochondrial inner membrane protein MPV17 | Always | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 2 conditions |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Always | In 1 condition |
| VAMP1vesicle associated membrane protein 1 | Always | In 2 conditions |
| VCPvalosin containing protein | Always | In 3 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Always | In 2 conditions |
| MGME1mitochondrial genome maintenance exonuclease 1 | Very often (80–99%) | In 2 conditions |
| NAGAalpha-N-acetylgalactosaminidase | Very often (80–99%) | In 2 conditions |
| SPTBN4spectrin beta, non-erythrocytic 4 | Very often (80–99%) | In 1 condition |
| ADSS1adenylosuccinate synthase 1 | Often (30–79%) | In 1 condition |
| BIN1bridging integrator 1 | Often (30–79%) | In 2 conditions |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL6A1collagen type VI alpha 1 chain | Often (30–79%) | In 3 conditions |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 2 conditions |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 2 conditions |
| DOK7docking protein 7 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| FUSFUS RNA binding protein | Often (30–79%) | In 1 condition |
| GLDNgliomedin | Often (30–79%) | In 1 condition |
| KIF21Akinesin family member 21A | Often (30–79%) | In 1 condition |
| LMNB2lamin B2 | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NUP88nucleoporin 88 | Often (30–79%) | In 1 condition |
| OGDHoxoglutarate dehydrogenase | Often (30–79%) | In 1 condition |
Show 38 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Often (30–79%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 2 conditions |
| SLC18A3solute carrier family 18 member A3 | 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 |
| TARDBPTAR DNA binding protein | Often (30–79%) | In 1 condition |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 2 conditions |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Sometimes (5–29%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Sometimes (5–29%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sometimes (5–29%) | In 1 condition |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Sometimes (5–29%) | In 1 condition |
| MST1macrophage stimulating 1 | Sometimes (5–29%) | In 1 condition |
| MYPNmyopalladin | Sometimes (5–29%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Sometimes (5–29%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Sometimes (5–29%) | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| RBM28RNA binding motif protein 28 | Sometimes (5–29%) | In 1 condition |
| RNF170ring finger protein 170 | Sometimes (5–29%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Sometimes (5–29%) | In 1 condition |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Sometimes (5–29%) | In 1 condition |
| UNC45Bunc-45 myosin chaperone B | Sometimes (5–29%) | In 1 condition |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Rarely (1–4%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Not recorded | In 1 condition |
| BAG3BAG cochaperone 3 | Not recorded | In 1 condition |
| LAMP2lysosome associated membrane protein 2 | Not recorded | In 1 condition |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Not recorded | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Not recorded | In 1 condition |
| SLC52A2solute carrier family 52 member 2 | Not recorded | In 1 condition |
| TK2thymidine kinase 2 | Not recorded | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Not recorded | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | 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 2026.10.16-c6eea6bf.
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