congenital fiber-type disproportion myopathy
Findings
No curated finding names congenital fiber-type disproportion myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.
Definition from the Mondo Disease Ontology (MONDO:0009711), read 2026-09-29. CC BY 4.0.
Features
59 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Progressive muscle weaknessHPOHP:0003323
- Very frequent (80% to 99% of cases)
- Type 1 muscle fiber atrophyHPOHP:0011807
- Very frequent (80% to 99% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Frequent (30% to 79% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Dental crowding
Show the remaining 47
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Flexion contractureHPOHP:0001371
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Myopathic faciesHPOHP:0002058
- Frequent (30% to 79% of cases)
Genes
8 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TPM3HGNC:12012
- Moderate · Ambry Genetics · Semidominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- ACTA1HGNC:129
- Supportive · Orphanet · Autosomal dominant · 2021
- HACD1HGNC:9639
- Supportive · Orphanet · Autosomal dominant · 2021
- ITGA7HGNC:6143
- Supportive · Orphanet · Autosomal dominant · 2021
- MAP3K20HGNC:17797
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
4 names
Resolves to: congenital fiber-type disproportion myopathy
- Also called
- CFTDMcongenital fiber-type disproportioncongenital myopathy with fiber type disproportioncongenital myopathy with fibre type disproportion