Trait
Increased endomysial connective tissue
An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscle fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.
Summary
- Also called
- Endomysial fibrosis
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test42 genes linked to Increased endomysial connective tissue
Changes in these genes cause rare conditions in which Increased endomysial connective tissue 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Always | In 2 conditions |
| CHKBcholine kinase beta | Always | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Always | In 3 conditions |
| DNM1Ldynamin 1L | Always | In 1 condition |
| GIPC1GIPC PDZ domain containing family member 1 | Always | In 1 condition |
| HSPB8heat shock protein family B (small) member 8 | Always | In 1 condition |
| MEGF10multiple EGF like domains 10 | Always | In 1 condition |
| MLIPmuscular LMNA interacting protein | Always | In 1 condition |
| MYL1myosin light chain 1 | Always | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Always | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| SELENONselenoprotein N | Always | In 1 condition |
| SGCAsarcoglycan alpha | Always | In 1 condition |
| SGCGsarcoglycan gamma | Always | In 2 conditions |
| SLC12A6solute carrier family 12 member 6 | Always | In 1 condition |
| SNUPNsnurportin 1 | Always | In 1 condition |
| TOR1AIP1torsin 1A interacting protein 1 | Always | In 1 condition |
| TRIM63tripartite motif containing 63 | Always | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Always | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Always | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Very often (80–99%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Very often (80–99%) | In 1 condition |
| ANO5anoctamin 5 | Often (30–79%) | In 1 condition |
| CACNA1Scalcium voltage-gated channel subunit alpha1 S | Often (30–79%) | In 1 condition |
| CFL2cofilin 2 | Often (30–79%) | In 1 condition |
| DTNAdystrobrevin alpha | Often (30–79%) | In 1 condition |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Often (30–79%) | In 1 condition |
| GUK1guanylate kinase 1 | Often (30–79%) | In 1 condition |
| HMGCR3-hydroxy-3-methylglutaryl-CoA reductase | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Often (30–79%) | In 1 condition |
| MYOTmyotilin | Often (30–79%) | In 1 condition |
| PACSIN3protein kinase C and casein kinase substrate in neurons 3 | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 1 condition |
| ABCD3ATP binding cassette subfamily D member 3 | Not recorded | In 1 condition |
| ANXA11annexin A11 | Not recorded | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Not recorded | In 1 condition |
Show 2 more genes
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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