MCID: MYS010
MIFTS: 10

Myostatin-Related Muscle Hypertrophy

Categories: Rare diseases, Muscle diseases

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

MalaCards integrated aliases for Myostatin-Related Muscle Hypertrophy:

Name: Myostatin-Related Muscle Hypertrophy 12 72 23 49 24
Muscle Hypertrophy Syndrome 24
Mslhp 12

Characteristics:

GeneReviews:

23
Penetrance Penetrance is unknown...

Classifications:



External Ids:

Disease Ontology 12 DOID:0111072
UMLS 69 C2931112

Summaries for Myostatin-Related Muscle Hypertrophy

NIH Rare Diseases : 49 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. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. Last updated: 4/20/2016

MalaCards based summary : Myostatin-Related Muscle Hypertrophy, also known as muscle hypertrophy syndrome, is related to muscle hypertrophy. An important gene associated with Myostatin-Related Muscle Hypertrophy is MSTN (Myostatin).

Genetics Home Reference : 24 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.

Disease Ontology : 12 A muscle tissue disease characterized by increased muscle bulk and strength that has material basis in homozygous mutation in the MSTN gene on chromosome 2q32.2.

GeneReviews: NBK1498

Related Diseases for Myostatin-Related Muscle Hypertrophy

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

# Related Disease Score Top Affiliating Genes
1 muscle hypertrophy 11.7

Symptoms & Phenotypes for Myostatin-Related Muscle Hypertrophy

Drugs & Therapeutics for Myostatin-Related Muscle Hypertrophy

Search Clinical Trials , NIH Clinical Center for Myostatin-Related Muscle Hypertrophy

Genetic Tests for Myostatin-Related Muscle Hypertrophy

Anatomical Context for Myostatin-Related Muscle Hypertrophy

Publications for Myostatin-Related Muscle Hypertrophy

Articles related to Myostatin-Related Muscle Hypertrophy:

# Title Authors Year
1
Myostatin-Related Muscle Hypertrophy ( 20301671 )
1993

Variations for Myostatin-Related Muscle Hypertrophy

ClinVar genetic disease variations for Myostatin-Related Muscle Hypertrophy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSTN NM_005259.2(MSTN): c.373+5G> A single nucleotide variant Pathogenic rs397515373 GRCh37 Chromosome 2, 190926945: 190926945

Expression for Myostatin-Related Muscle Hypertrophy

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

Pathways for Myostatin-Related Muscle Hypertrophy

GO Terms for Myostatin-Related Muscle Hypertrophy

Sources for Myostatin-Related Muscle Hypertrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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