Details of Disease

General Information of Disease (ID: DISOL3YH)

Disease Name Myostatin-related muscle hypertrophy
Synonyms muscle hypertrophy; MSLHP
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.
Disease Hierarchy
DISYKSRF: Genetic disease
DISXAP3G: Muscle tissue disorder
DISOL3YH: Myostatin-related muscle hypertrophy
Disease Identifiers
MONDO ID
MONDO_0013598
MESH ID
C536106
UMLS CUI
C2931112
MedGen ID
418994
Orphanet ID
275534
SNOMED CT ID
699185005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MSTN TTM8I2X Supportive Autosomal recessive [1]
MSTN TTM8I2X Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MSTN OT2AH45R Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Myostatin-Related Muscle Hypertrophy C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2005 Oct 5 [updated 2013 Jul 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2 2q31.2q32.3 deletion syndrome: report of an adult patient.Am J Med Genet A. 2009 Feb 15;149A(4):706-12. doi: 10.1002/ajmg.a.32688.