myostatin-related muscle hypertrophy
Findings
No curated finding names myostatin-related muscle hypertrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance.
Definition from the Mondo Disease Ontology (MONDO:0013598), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Skeletal muscle hypertrophyHPOHP:0003712
- 1 of 1 reported patient · Congenital onset
Genes
1 gene
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.
- MSTNHGNC:4223
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: myostatin-related muscle hypertrophy
- Also called
- MSLHP