MCID: MYS010
MIFTS: 25

Myostatin-Related Muscle Hypertrophy malady

Genetic diseases, Rare diseases categories

Summaries for Myostatin-Related Muscle Hypertrophy

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NIH Rare Diseases:42 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 based summary: Myostatin-Related Muscle Hypertrophy, also known as muscle hypertrophy syndrome, is related to muscular dystrophy and myotonia, and has symptoms including autosomal recessive inheritanceand muscle hypertrophy. An important gene associated with Myostatin-Related Muscle Hypertrophy is MSTN (myostatin). Affiliated tissues include skeletal muscle.

Genetics Home Reference:22 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:64 Myostatin-related muscle hypertrophy (or myotonic hypertrophy) is a rare genetic condition characterized... more...

Description from OMIM:46 614160

GeneReviews summary for mstn

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

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Myostatin-Related Muscle Hypertrophy, Aliases & Descriptions:

Name: Myostatin-Related Muscle Hypertrophy 20 42 21 23 22 48
Muscle Hypertrophy Syndrome 22
 
Muscle Hypertrophy 46


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
myostatin-related muscle hypertrophy:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

OMIM46 614160
UMLS via Orphanet62 C2931112

Related Diseases for Myostatin-Related Muscle Hypertrophy

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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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Clinical features from OMIM:

614160

HPO human phenotypes related to Myostatin-Related Muscle Hypertrophy:

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

Drugs & Therapeutics for Myostatin-Related Muscle Hypertrophy

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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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Genetic tests related to Myostatin-Related Muscle Hypertrophy:

id Genetic test Affiliating Genes
1 Myostatin-Related Muscle Hypertrophy21 23 MSTN

Anatomical Context for Myostatin-Related Muscle Hypertrophy

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

32
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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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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Clinvar genetic disease variations for Myostatin-Related Muscle Hypertrophy:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Myostatin-Related Muscle Hypertrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet