MCID: MYS010
MIFTS: 12

Myostatin-Related Muscle Hypertrophy

Categories: Rare diseases, Genetic diseases, Muscle diseases

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

MalaCards integrated aliases for Myostatin-Related Muscle Hypertrophy:

Name: Myostatin-Related Muscle Hypertrophy 12 23 50 24 25
Muscle Hypertrophy Syndrome 25
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 : 50 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). Affiliated tissues include skeletal muscle.

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.

Genetics Home Reference : 25 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 : 72 Myostatin-related muscle hypertrophy (or myotonic hypertrophy) is a rare genetic condition characterized... more...

GeneReviews: NBK1498

Related Diseases for Myostatin-Related Muscle Hypertrophy

Diseases in the Muscle Hypertrophy family:

Myostatin-Related Muscle Hypertrophy

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

id Related Disease Score Top Affiliating Genes
1 muscle hypertrophy 11.6

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

Genetic tests related to Myostatin-Related Muscle Hypertrophy:

id Genetic test Affiliating Genes
1 Myostatin-Related Muscle Hypertrophy 24 MSTN

Anatomical Context for Myostatin-Related Muscle Hypertrophy

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

39
Skeletal Muscle

Publications for Myostatin-Related Muscle Hypertrophy

Articles related to Myostatin-Related Muscle Hypertrophy:

id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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