myostatin-related muscle hypertrophy

Summary
Synonym
  • MSLHP
Definition
A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2.
Super Class
muscle tissue disease
Disease Ontology
DOID:0111072
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2660 MSTN myostatin
Displaying 1 entry
Gene ID Gene Symbol Description Source
17700 Mstn myostatin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O14793 Growth/differentiation factor 8
Displaying 1 entry
UniProt ID Protein Name Source
O08689 Growth/differentiation factor 8

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025