KEGG DISEASE: Muscle hypertrophy

KEGG

DISEASE: Muscle hypertrophy

Entry

H02452                      Disease

Name

Muscle hypertrophy

Description

Muscle hypertrophy (MSLHP) is defined as an increase in muscle mass, as a result of an increase in the size of pre-existing muscle fibers. A myostatin mutation in a child with muscle hypertrophy has been identified. Myostatin, a member of the TGF-beta superfamily, is a potent negative regulator of skeletal muscle growth. Myostatin inactivation can induce muscle hypertrophy.

Category

Musculoskeletal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
15 Diseases of the musculoskeletal system or connective tissue
  Soft tissue disorders
   Disorders of muscles
    FB32  Certain specified disorders of muscle
     H02452  Muscle hypertrophy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H02452  Muscle hypertrophy

Pathway

Cytokine-cytokine receptor interaction

Network

nt06507 TGFB signaling

Gene

MSTN [HSA:2660] [KO:K05497]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Catipovic B

Title

Myostatin mutation associated with gross muscle hypertrophy in a child.

Journal

N Engl J Med 351:1030-1; author reply 1030-1 (2004)
DOI:10.1056/NEJM200409023511018

Reference

Authors

Rodriguez J, Vernus B, Chelh I, Cassar-Malek I, Gabillard JC, Hadj Sassi A, Seiliez I, Picard B, Bonnieu A

Title

Myostatin and the skeletal muscle atrophy and hypertrophy signaling pathways.

Journal

Cell Mol Life Sci 71:4361-71 (2014)
DOI:10.1007/s00018-014-1689-x

Reference

Authors

Glass DJ

Title

Skeletal muscle hypertrophy and atrophy signaling pathways.

Journal

Int J Biochem Cell Biol 37:1974-84 (2005)
DOI:10.1016/j.biocel.2005.04.018

LinkDB

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