MCID: MYS010
MIFTS: 23

Myostatin-Related Muscle Hypertrophy malady

Genetic diseases, Rare diseases categories
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Summaries for Myostatin-Related Muscle Hypertrophy

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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. myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal. last updated: 7/2/2009

MalaCards: Myostatin-Related Muscle Hypertrophy, also known as muscle hypertrophy syndrome, is related to muscular dystrophy and myotonia. An important gene associated with Myostatin-Related Muscle Hypertrophy is MSTN (myostatin). Affiliated tissues include skeletal muscle.

Genetics Home Reference:21 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. Myostatin-related muscle hypertrophy is not known to cause any medical problems, and affected individuals are intellectually normal.

Wikipedia:65 Myostatin-related muscle hypertrophy (or myotonic hypertrophy) is a rare genetic condition characterized... more...

Description from OMIM:47 614160

GeneReviews summary for mstn

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

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Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
myostatin-related muscle hypertrophy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

myostatin-related muscle hypertrophy 19 43 20 22 21 49
muscle hypertrophy syndrome 21
muscle hypertrophy 47


External Ids:

UMLS via Orphanet63 C2931112
OMIM47 614160

Related Diseases for Myostatin-Related Muscle Hypertrophy

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Myostatin-Related Muscle Hypertrophy:



Diseases related to myostatin-related muscle hypertrophy

Symptoms for Myostatin-Related Muscle Hypertrophy

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47OMIM
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Clinical features from OMIM:

614160

Drugs & Therapeutics for Myostatin-Related Muscle Hypertrophy

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Myostatin-Related Muscle Hypertrophy

Search NIH Clinical Center for Myostatin-Related Muscle Hypertrophy

Genetic Tests for Myostatin-Related Muscle Hypertrophy

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20GeneTests, 22GTR
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Genetic tests related to Myostatin-Related Muscle Hypertrophy:

id Genetic test Affiliating Genes
1 Myostatin-Related Muscle Hypertrophy20 22 MSTN

Anatomical Context for Myostatin-Related Muscle Hypertrophy

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33MalaCards
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MalaCards organs/tissues related to Myostatin-Related Muscle Hypertrophy:

33
Skeletal muscle

Animal Models for Myostatin-Related Muscle Hypertrophy or affiliated genes

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Publications for Myostatin-Related Muscle Hypertrophy

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52PubMed
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Articles related to Myostatin-Related Muscle Hypertrophy:

idTitleAuthorsYear
1
Myostatin-Related Muscle Hypertrophy (20301671)
1993

Variations for Myostatin-Related Muscle Hypertrophy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Myostatin-Related Muscle Hypertrophy:

1
id Gene Name 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 Myostatin-Related Muscle Hypertrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Myostatin-Related Muscle Hypertrophy

Search GEO for disease gene expression data for Myostatin-Related Muscle Hypertrophy.

Pathways for genes affiliated with Myostatin-Related Muscle Hypertrophy

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Compounds for genes affiliated with Myostatin-Related Muscle Hypertrophy

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GO Terms for genes affiliated with Myostatin-Related Muscle Hypertrophy

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Products for genes affiliated with Myostatin-Related Muscle Hypertrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Myostatin-Related Muscle Hypertrophy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet