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myostatin-related muscle hypertrophy

Disease Summary
Associated Targets (2)
Tclin

1

Tdark

1


GARD Rare
Mondo Description 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.
Uniprot Description A condition characterized by increased muscle bulk and strength. Affected individuals are exceptionally strong.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0013598:  myostatin-related muscle hypertrophy
GARD:0010238: 
MESH:C536106: 
Orphanet:275534: 
SCTID:699185005: