MCID: MSC007
MIFTS: 35

Muscle Hypertrophy malady

Genetic diseases (common) category

Summaries for Muscle Hypertrophy

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Wikipedia:63 Muscle hypertrophy involves an increase in size of skeletal muscle through an increase in the size of... more...

MalaCards based summary: Muscle Hypertrophy is related to hypertrophic cardiomyopathy and muscular dystrophy, and has symptoms including autosomal recessive inheritanceand muscle hypertrophy. An important gene associated with Muscle Hypertrophy is MSTN (myostatin), and among its related pathways are Heart Development and TGF-beta Signaling Pathway. The compounds phenylephrine and glycogen have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, smooth muscle and heart, and related mouse phenotypes are cellular and muscle.

Description from OMIM:45 614160

Aliases & Classifications for Muscle Hypertrophy

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Muscle Hypertrophy, Aliases & Descriptions:

Name: Muscle Hypertrophy 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 614160

Related Diseases for Muscle Hypertrophy

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Diseases related to Muscle Hypertrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy30.8TCAP
2muscular dystrophy30.3TCAP, MSTN, CAV3
3neuropathy30.2CAV3, MSTN
4duchenne muscular dystrophy29.9TCAP, MSTN, CAV3
5myostatin-related muscle hypertrophy10.6
6myotonia congenita, atypical, acetazolamide-responsive10.4
7myhre syndrome10.3
8myotonia10.3
9schwartz-jampel syndrome, type 110.2
10lipodystrophy, familial partial, 210.2
11becker muscular dystrophy10.2
12rippling muscle disease10.1
13parkes weber syndrome10.1
14leri-weill dyschondrosteosis10.1
15myotonia congenita, recessive10.1
16multifocal motor neuropathy10.1
17radiculopathy10.1
18muscular pseudohypertrophy - hypothyroidism10.1
19acetazolamide-responsive myotonia10.1
20autosomal dominant limb-girdle muscular dystrophy type 1c10.1CAV3, MSTN
21cardiomyopathy, familial hypertrophic, 110.1CAV3, TCAP
22muscular dystrophy, limb-girdle, type 1a10.0CAV3, TCAP
23muscular dystrophy, limb-girdle, type 2b10.0CAV3, TCAP
24calpainopathy10.0TCAP, CAV3
25muscular dystrophy-dystroglycanopathy , type c, 310.0
26muscular dystrophy, congenital, 1b10.0
27mowat-wilson syndrome10.0
28myopathy, early-onset, with fatal cardiomyopathy10.0
29myopathy, distal, tateyama type10.0
30muscular dystrophy, limb-girdle, type 1h10.0
31facioscapulohumeral muscular dystrophy 110.0
32muscular dystrophy-dystroglycanopathy , type a, 410.0
33muscular dystrophy-dystroglycanopathy , type c, 410.0
34muscular dystrophy, limb-girdle, type 2l10.0
35muscular dystrophy-dystroglycanopathy , type c, 210.0
36lipodystrophy, familial partial, type 410.0
37muscular dystrophy, limb-girdle, type 2g10.0
38muscular dystrophy, limb-girdle, type 2d10.0
39lipodystrophy, congenital generalized, type 410.0
40muscular dystrophy-dystroglycanopathy , type b, 510.0
41muscular dystrophy-dystroglycanopathy , type c, 510.0
42spinal muscular atrophy, jokela type10.0
43myopathy, x-linked, with postural muscle atrophy10.0
44paramyotonia congenita10.0
45myopathy, centronuclear10.0
46muscular dystrophy, limb-girdle, type ic10.0
47myotonia congenita, dominant10.0
48spinal and bulbar muscular atrophy of kennedy10.0
49pulmonary hypertension10.0
50spinal muscular atrophy10.0

Graphical network of the top 20 diseases related to Muscle Hypertrophy:



Diseases related to muscle hypertrophy

Symptoms for Muscle Hypertrophy

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Clinical features from OMIM:

614160

HPO human phenotypes related to Muscle Hypertrophy:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 muscle hypertrophy HP:0003712

Drugs & Therapeutics for Muscle Hypertrophy

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Drug clinical trials:

Search ClinicalTrials for Muscle Hypertrophy

Search NIH Clinical Center for Muscle Hypertrophy

Genetic Tests for Muscle Hypertrophy

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Anatomical Context for Muscle Hypertrophy

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MalaCards organs/tissues related to Muscle Hypertrophy:

31
Skeletal muscle, Smooth muscle, Heart

Animal Models for Muscle Hypertrophy or affiliated genes

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MGI Mouse Phenotypes related to Muscle Hypertrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053847.5GATA6, CAV3, RPS6KB1, HTR2B, MSTN, TCAP
2MP:00053697.0TCAP, MSTN, HTR2B, BMP10, RPS6KB1, CAV3
3MP:00053766.8TCAP, MSTN, RPS6KB1, CAMTA2, CAV3, EIF2B5
4MP:00053856.3GATA6, TCAP, MSTN, HTR2B, BMP10, RPS6KB1

Publications for Muscle Hypertrophy

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Articles related to Muscle Hypertrophy:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Bilateral anterior tarsal tunnel syndrome variant secondary to extensor hallucis brevis muscle hypertrophy in a ballet dancer: a case report. (25457672)
2014
2
Bow hunter's syndrome causing vertebrobasilar insufficiency in a young male with neck muscle hypertrophy: a case report and literature review. (24184499)
2013
3
Becker muscular dystrophy with widespread muscle hypertrophy and a non-sense mutation of exon 2. (22939275)
2013
4
No histological evidence of orbicularis oculi muscle hypertrophy in congenital epiblepharon. (22712518)
2013
5
Isolated papillary muscle hypertrophy: a variant of hypertrophic cardiomyopathy, but further evidences are still needed: reply. (24006525)
2013
6
Isolated papillary muscle hypertrophy: a variant of hypertrophic cardiomyopathy? Do not miss a hypertrophic cardiomyopathy. (23002198)
2013
7
Isolated papillary muscle hypertrophy: a variant of hypertrophic cardiomyopathy, but further evidences are still needed. (23708754)
2013
8
A PGC-1I+ isoform induced by resistance training regulates skeletal muscle hypertrophy. (23217713)
2012
9
Bradykinin type 2 receptor -9/-9 genotype is associated with triceps brachii muscle hypertrophy following strength training in young healthy men. (23127247)
2012
10
Muscle plasticity and I^a88-adrenergic receptors: adaptive responses of I^a88-adrenergic receptor expression to muscle hypertrophy and atrophy. (22190857)
2011
11
Transcriptional repression of Caveolin-1 (CAV1) gene expression by GATA-6 in bladder smooth muscle hypertrophy in mice and human beings. (21514437)
2011
12
Skeletal muscle hypertrophy and muscle myostatin reduction after resistive training in stroke survivors. (21164115)
2011
13
Pathological mechanism of lumbar disc herniation resulting in neurogenic muscle hypertrophy. (21985744)
2011
14
GI+i2 signaling promotes skeletal muscle hypertrophy, myoblast differentiation, and muscle regeneration. (22126963)
2011
15
Genetic variability in the myostatin gene does not explain the muscle hypertrophy and clinical penetrance in myotonia congenita. (19918890)
2010
16
Muscle hypertrophy and increased expression of leptin receptors in the musculus triceps brachii of the dominant arm in professional tennis players. (20187280)
2010
17
Calmodulin kinase II is required for angiotensin II-mediated vascular smooth muscle hypertrophy. (20023119)
2010
18
Mechano-biology of skeletal muscle hypertrophy and regeneration: possible mechanism of stretch-induced activation of resident myogenic stem cells. (20163667)
2010
19
Pulmonary artery smooth muscle hypertrophy: roles of glycogen synthase kinase-3beta and p70 ribosomal S6 kinase. (20190034)
2010
20
Mechanical stretch up-regulates microRNA-26a and induces human airway smooth muscle hypertrophy by suppressing glycogen synthase kinase-3I^. (20525681)
2010
21
Thenar and hypothenar muscle hypertrophy in Becker muscular dystrophy. (20149660)
2010
22
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. (19383783)
2009
23
Thermal manipulations in late-term chick embryos have immediate and longer term effects on myoblast proliferation and skeletal muscle hypertrophy. (19023019)
2009
24
Muscle hypertrophy of the lower leg caused by L5 radiculopathy. (19523866)
2009
25
Acute and long-term effects of resistance exercise with or without protein ingestion on muscle hypertrophy and gene expression. (18661258)
2009
26
Peripheral myoclonus and muscle hypertrophy of quadriceps revealing a spinal dysraphism. (19303804)
2009
27
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M). (19840739)
2009
28
Regulation of mTOR signaling in skeletal muscle hypertrophy. (19147966)
2008
29
PGF2alpha-associated vascular smooth muscle hypertrophy is ROS dependent and involves the activation of mTOR, p70S6k, and PTEN. (18160324)
2008
30
Extraocular muscle hypertrophy in myotonia congenita. (18313341)
2008
31
Muscle-specific overexpression of the type 1 IGF receptor results in myoblast-independent muscle hypertrophy via PI3K, and not calcineurin, signaling. (17940216)
2007
32
Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy. (16916907)
2006
33
Alterations of M-cadherin, neural cell adhesion molecule and beta-catenin expression in satellite cells during overload-induced skeletal muscle hypertrophy. (16776666)
2006
34
Skeletal muscle hypertrophy and structure and function of skeletal muscle fibres in male body builders. (16339176)
2006
35
Transforming growth factor-beta induces airway smooth muscle hypertrophy. (16239645)
2006
36
Systemic administration of beta2-adrenoceptor agonists, formoterol and salmeterol, elicit skeletal muscle hypertrophy in rats at micromolar doses. (16432501)
2006
37
Skeletal muscle hypertrophy and atrophy signaling pathways. (16087388)
2005
38
Molecular mechanisms involving IGF-1 and myostatin to induce muscle hypertrophy as a therapeutic strategy for Duchenne muscular dystrophy. (16629058)
2005
39
Myostatin mutation associated with gross muscle hypertrophy in a child. (15215484)
2004
40
Myostatin mutation associated with gross muscle hypertrophy in a child. (15352277)
2004
41
Akt/mTOR pathway is a crucial regulator of skeletal muscle hypertrophy and can prevent muscle atrophy in vivo. (11715023)
2001
42
Primary orthostatic tremor with prominent muscle hypertrophy. (9305357)
1997
43
Reversal of muscle hypertrophy in the rat urinary bladder after removal of urethral obstruction. (8082124)
1994
44
Myostatin-Related Muscle Hypertrophy (20301671)
1993
45
Signals for cardiac muscle hypertrophy in hypertension. (1715489)
1991
46
The extent of muscle hypertrophy in infantile hypertrophic pyloric stenosis does not depend on age and duration of symptoms. (3559857)
1987
47
Papillary muscle hypertrophy in chronic rheumatic mitral valve stenosis. A clinicopathologic study. (7218525)
1981
48
A postmortem study of malignant glucagonoma with heart muscle hypertrophy, including chemical, histochemical, immunohistological and ultrastructural observations. (6274784)
1981
49
Myokymia, muscle hypertrophy and percussion "myotonia" in chronic recurrent polyneuropathy. (568731)
1978
50
Hiatus hernia, pyloric muscle hypertrophy and contracted pyloric segment in adults. (5098623)
1971

Variations for Muscle Hypertrophy

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Clinvar genetic disease variations for Muscle Hypertrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005259.2(MSTN): c.458A> G (p.Lys153Arg)single nucleotide variantPathogenicrs1805086GRCh37Chr 2, 190925077: 190925077
2NM_005259.2(MSTN): c.373+5G> Asingle nucleotide variantPathogenicrs397515373GRCh37Chr 2, 190926945: 190926945

Expression for genes affiliated with Muscle Hypertrophy

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Search GEO for disease gene expression data for Muscle Hypertrophy.

Pathways for genes affiliated with Muscle Hypertrophy

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Pathways related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7GATA6, BMP10
29.2RPS6KB1, BMP10, MSTN
3
Show member pathways
8.6CDH15, EIF2B5, RPS6KB1, BMP10

Compounds for genes affiliated with Muscle Hypertrophy

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1phenylephrine43 28 24 1212.0CAV3, RPS6KB1
2glycogen43 249.3EIF2B5, CAV3, RPS6KB1

GO Terms for genes affiliated with Muscle Hypertrophy

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Cellular components related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1caveolaGO:00059019.1CDH15, CAV3
2neuromuscular junctionGO:00315949.0CDH15, CAV3
3Z discGO:00300189.0CAV3, BMP10, TCAP
4cell surfaceGO:00099868.4BMP10, RPS6KB1, CAV3

Biological processes related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:000751210.1BMP10, TCAP
2sarcomere organizationGO:004521410.0TCAP, BMP10
3positive regulation of cardiac muscle cell proliferationGO:006004510.0GATA6, BMP10
4cardiac muscle hypertrophyGO:00033009.9HTR2B, TCAP
5response to estrogenGO:00436279.9MSTN, GATA6
6skeletal muscle atrophyGO:00147329.9RPS6KB1, MSTN
7skeletal muscle contractionGO:00030099.7TCAP, RPS6KB1
8response to testosteroneGO:00335749.7MSTN, RPS6KB1
9positive regulation of translational initiationGO:00459489.7EIF2B5, RPS6KB1
10negative regulation of cardiac muscle hypertrophyGO:00106149.6BMP10, CAV3
11regulation of cardiac muscle contractionGO:00551179.6BMP10, CAV3
12heart trabecula formationGO:00603479.6BMP10, CAV3
13response to glucocorticoidGO:00513849.6RPS6KB1, MSTN
14response to ethanolGO:00454719.6RPS6KB1, MSTN
15response to glucoseGO:00097499.5EIF2B5, RPS6KB1
16response to heatGO:00094089.4MSTN, RPS6KB1, EIF2B5
17cardiac muscle hypertrophy in response to stressGO:00148989.4GATA6, CAMTA2, BMP10, TCAP
18response to drugGO:00424939.1GATA6, RPS6KB1, HTR2B
19muscle organ developmentGO:00075179.1CAV3, MSTN
20negative regulation of apoptotic processGO:00430668.8HTR2B, RPS6KB1, GATA6

Molecular functions related to Muscle Hypertrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ion channel bindingGO:00443259.3CAV3, TCAP
2protein bindingGO:00055156.5GATA6, TCAP, MSTN, BMP10, RPS6KB1, CAMTA2

Products for genes affiliated with Muscle Hypertrophy

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Sources for Muscle Hypertrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet