Trait
Muscular dystrophy
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Summary
- 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 Test73 genes linked to Muscular dystrophy
Changes in these genes cause rare conditions in which Muscular dystrophy 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 |
|---|---|---|
| CHKBcholine kinase beta | Always | In 1 condition |
| FKTNfukutin | Always | In 7 conditions |
| LMNAlamin A/C | Always | In 4 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 5 conditions |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Always | In 2 conditions |
| POMKprotein O-mannose kinase | Always | In 4 conditions |
| POMT1protein O-mannosyltransferase 1 | Always | In 7 conditions |
| POMT2protein O-mannosyltransferase 2 | Always | In 6 conditions |
| TRIP4thyroid hormone receptor interactor 4 | Always | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 2 conditions |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Very often (80–99%) | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Very often (80–99%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Very often (80–99%) | In 1 condition |
| BUB3BUB3 mitotic checkpoint protein | Very often (80–99%) | In 1 condition |
| CEP57centrosomal protein 57 | Very often (80–99%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL6A2collagen type VI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 3 conditions |
| DAG1dystroglycan 1 | Very often (80–99%) | In 3 conditions |
| FKRPfukutin related protein | Very often (80–99%) | In 8 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Very often (80–99%) | In 4 conditions |
| JAG2jagged canonical Notch ligand 2 | Very often (80–99%) | In 1 condition |
| LAMA2laminin subunit alpha 2 | Very often (80–99%) | In 2 conditions |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 4 conditions |
| MYH7myosin heavy chain 7 | Very often (80–99%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Very often (80–99%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| SELENONselenoprotein N | Very often (80–99%) | In 2 conditions |
| TRIP13thyroid hormone receptor interactor 13 | Very often (80–99%) | In 1 condition |
| TTNtitin | Very often (80–99%) | In 3 conditions |
| AHCYadenosylhomocysteinase | Often (30–79%) | In 1 condition |
| CAPN3calpain 3 | Often (30–79%) | In 2 conditions |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Often (30–79%) | In 1 condition |
| NPPAnatriuretic peptide A | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 2 conditions |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Often (30–79%) | In 1 condition |
| SGCAsarcoglycan alpha | Often (30–79%) | In 1 condition |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SIL1SIL1 nucleotide exchange factor | Often (30–79%) | In 1 condition |
| TRAPPC11trafficking protein particle complex subunit 11 | Often (30–79%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 2 conditions |
| ITGB4integrin subunit beta 4 | Sometimes (5–29%) | In 1 condition |
| LIPElipase E, hormone sensitive type | Sometimes (5–29%) | In 1 condition |
| PLECplectin | Sometimes (5–29%) | In 3 conditions |
| PNKPpolynucleotide kinase 3'-phosphatase | Sometimes (5–29%) | In 1 condition |
| ANO5anoctamin 5 | Not recorded | In 2 conditions |
| BAG3BAG cochaperone 3 | Not recorded | In 1 condition |
| BET1Bet1 golgi vesicular membrane trafficking protein | Not recorded | In 1 condition |
| CAV3caveolin 3 | Not recorded | In 1 condition |
| CAVIN1caveolae associated protein 1 | Not recorded | In 1 condition |
| CRYABcrystallin alpha B | Not recorded | In 1 condition |
| DMDdystrophin | Not recorded | In 2 conditions |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Not recorded | In 1 condition |
| DYSFdysferlin | Not recorded | In 2 conditions |
| GKglycerol kinase | Not recorded | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Not recorded | In 2 conditions |
| ITGA7integrin subunit alpha 7 | Not recorded | In 1 condition |
| LIMS2LIM zinc finger domain containing 2 | Not recorded | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Not recorded | In 1 condition |
| PLIN4perilipin 4 | Not recorded | In 1 condition |
| POPDC1popeye domain cAMP effector 1 | Not recorded | In 1 condition |
| SGCBsarcoglycan beta | Not recorded | In 1 condition |
| SGCDsarcoglycan delta | Not recorded | In 1 condition |
| SGCGsarcoglycan gamma | Not recorded | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Not recorded | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Not recorded | In 1 condition |
| TCAPtitin-cap | Not recorded | In 1 condition |
| TMEM43transmembrane protein 43 | Not recorded | In 1 condition |
| TNPO3transportin 3 | Not recorded | In 1 condition |
| TOR1AIP1torsin 1A interacting protein 1 | Not recorded | In 1 condition |
| TRIM32tripartite motif containing 32 | 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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