MCID: MYS010
MIFTS: 32

Myostatin-Related Muscle Hypertrophy malady

Genetic diseases, Rare diseases categories
Download this MalaCard

Summaries for Myostatin-Related Muscle Hypertrophy

About this section


Fully expand this MalaCard
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 An important gene associated with Myostatin-Related Muscle Hypertrophy is MSTN (myostatin). The compounds dexamethasone and glyceraldehyde 3-phosphate have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

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:46 614160

GeneReviews summary for mstn

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

About this section

Myostatin-Related Muscle Hypertrophy, Aliases & Descriptions:

Name: Myostatin-Related Muscle Hypertrophy 19 42 20 22 21 48
Muscle Hypertrophy Syndrome 21
 
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 Orphanet63 C2931112

Related Diseases for Myostatin-Related Muscle Hypertrophy

About this section

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

About this section


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

About this section

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

About this section

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

About this section

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

32
Skeletal muscle

Animal Models for Myostatin-Related Muscle Hypertrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Myostatin-Related Muscle Hypertrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.3MSTN, PEX13
2MP:00053709.2PEX13, MSTN
3MP:00053719.1CSF1R, MSTN
4MP:00053829.0CSF1R, MSTN
5MP:00053679.0MSTN, PEX13
6MP:00053868.7CSF1R, MSTN, PEX13
7MP:00053848.7PEX13, MSTN, CSF1R
8MP:00053788.7CSF1R, MSTN, PEX13
9MP:00107688.6PEX13, MSTN, CSF1R

Publications for Myostatin-Related Muscle Hypertrophy

About this section

Articles related to Myostatin-Related Muscle Hypertrophy:

idTitleAuthorsYear
1
Myostatin-Related Muscle Hypertrophy (20301671)
1993

Variations for Myostatin-Related Muscle Hypertrophy

About this section

Clinvar genetic disease variations for Myostatin-Related Muscle Hypertrophy:

6
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

About this section
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

About this section

Compounds for genes affiliated with Myostatin-Related Muscle Hypertrophy

About this section
Sources:
44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Myostatin-Related Muscle Hypertrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dexamethasone44 50 28 1112.0CSF1R, MSTN
2glyceraldehyde 3-phosphate448.7CSF1R, MSTN

GO Terms for genes affiliated with Myostatin-Related Muscle Hypertrophy

About this section

Products for genes affiliated with Myostatin-Related Muscle Hypertrophy

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Myostatin-Related Muscle Hypertrophy

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet