MCID: MYS010
MIFTS: 14

Myostatin-Related Muscle Hypertrophy

Categories: Rare diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Myostatin-Related Muscle Hypertrophy

MalaCards integrated aliases for Myostatin-Related Muscle Hypertrophy:

Name: Myostatin-Related Muscle Hypertrophy 12 76 24 53 25 29 6
Muscle Hypertrophy Syndrome 25
Mslhp 12

Characteristics:

GeneReviews:

24
Penetrance Penetrance is unknown...

Classifications:



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Disease Ontology 12 DOID:0111072
UMLS 73 C2931112

Summaries for Myostatin-Related Muscle Hypertrophy

NIH Rare Diseases : 53 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.

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.

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.

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.

Wikipedia : 76 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:

# 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

Genetic tests related to Myostatin-Related Muscle Hypertrophy:

# Genetic test Affiliating Genes
1 Myostatin-Related Muscle Hypertrophy 29 MSTN

Anatomical Context for Myostatin-Related Muscle Hypertrophy

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

41
Skeletal Muscle

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
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSTN NM_005259.2(MSTN): c.*493G> A single nucleotide variant Benign rs16832285 GRCh38 Chromosome 2, 190056765: 190056765
2 MSTN NM_005259.2(MSTN): c.*290C> T single nucleotide variant Likely benign rs537956645 GRCh38 Chromosome 2, 190056968: 190056968
3 MSTN NM_005259.2(MSTN): c.*290C> T single nucleotide variant Likely benign rs537956645 GRCh37 Chromosome 2, 190921694: 190921694
4 MSTN NM_005259.2(MSTN): c.*1332A> G single nucleotide variant Benign rs3791782 GRCh38 Chromosome 2, 190055926: 190055926
5 MSTN NM_005259.2(MSTN): c.*1332A> G single nucleotide variant Benign rs3791782 GRCh37 Chromosome 2, 190920652: 190920652
6 MSTN NM_005259.2(MSTN): c.1062T> C (p.Asn354=) single nucleotide variant Uncertain significance rs761053215 GRCh37 Chromosome 2, 190922050: 190922050
7 MSTN NM_005259.2(MSTN): c.1062T> C (p.Asn354=) single nucleotide variant Uncertain significance rs761053215 GRCh38 Chromosome 2, 190057324: 190057324
8 MSTN NM_005259.2(MSTN): c.386T> G (p.Met129Arg) single nucleotide variant Likely benign rs142195885 GRCh37 Chromosome 2, 190925149: 190925149
9 MSTN NM_005259.2(MSTN): c.386T> G (p.Met129Arg) single nucleotide variant Likely benign rs142195885 GRCh38 Chromosome 2, 190060423: 190060423
10 MSTN NM_005259.2(MSTN): c.306C> T (p.Ser102=) single nucleotide variant Likely benign rs34191156 GRCh37 Chromosome 2, 190927017: 190927017
11 MSTN NM_005259.2(MSTN): c.306C> T (p.Ser102=) single nucleotide variant Likely benign rs34191156 GRCh38 Chromosome 2, 190062291: 190062291
12 MSTN NM_005259.2(MSTN): c.263G> A (p.Arg88Gln) single nucleotide variant Likely benign rs138343163 GRCh37 Chromosome 2, 190927060: 190927060
13 MSTN NM_005259.2(MSTN): c.263G> A (p.Arg88Gln) single nucleotide variant Likely benign rs138343163 GRCh38 Chromosome 2, 190062334: 190062334
14 MSTN NM_005259.2(MSTN): c.-41_-39delGAA deletion Likely benign rs772646099 GRCh37 Chromosome 2, 190927361: 190927363
15 MSTN NM_005259.2(MSTN): c.-41_-39delGAA deletion Likely benign rs772646099 GRCh38 Chromosome 2, 190062635: 190062637
16 MSTN NM_005259.2(MSTN): c.*1450T> C single nucleotide variant Likely benign rs144167726 GRCh38 Chromosome 2, 190055808: 190055808
17 MSTN NM_005259.2(MSTN): c.*1450T> C single nucleotide variant Likely benign rs144167726 GRCh37 Chromosome 2, 190920534: 190920534
18 MSTN NM_005259.2(MSTN): c.*1073G> T single nucleotide variant Uncertain significance rs886055370 GRCh38 Chromosome 2, 190056185: 190056185
19 MSTN NM_005259.2(MSTN): c.*1073G> T single nucleotide variant Uncertain significance rs886055370 GRCh37 Chromosome 2, 190920911: 190920911
20 MSTN NM_005259.2(MSTN): c.*923T> C single nucleotide variant Uncertain significance rs886055371 GRCh38 Chromosome 2, 190056335: 190056335
21 MSTN NM_005259.2(MSTN): c.*923T> C single nucleotide variant Uncertain significance rs886055371 GRCh37 Chromosome 2, 190921061: 190921061
22 MSTN NM_005259.2(MSTN): c.*574G> A single nucleotide variant Likely benign rs114597606 GRCh38 Chromosome 2, 190056684: 190056684
23 MSTN NM_005259.2(MSTN): c.*574G> A single nucleotide variant Likely benign rs114597606 GRCh37 Chromosome 2, 190921410: 190921410
24 MSTN NM_005259.2(MSTN): c.*395A> C single nucleotide variant Benign rs16823986 GRCh38 Chromosome 2, 190056863: 190056863
25 MSTN NM_005259.2(MSTN): c.*395A> C single nucleotide variant Benign rs16823986 GRCh37 Chromosome 2, 190921589: 190921589
26 MSTN NM_005259.2(MSTN): c.*259A> G single nucleotide variant Likely benign rs578136956 GRCh38 Chromosome 2, 190056999: 190056999
27 MSTN NM_005259.2(MSTN): c.*259A> G single nucleotide variant Likely benign rs578136956 GRCh37 Chromosome 2, 190921725: 190921725
28 MSTN NM_005259.2(MSTN): c.748-3C> T single nucleotide variant Uncertain significance rs374256136 GRCh37 Chromosome 2, 190922367: 190922367
29 MSTN NM_005259.2(MSTN): c.748-3C> T single nucleotide variant Uncertain significance rs374256136 GRCh38 Chromosome 2, 190057641: 190057641
30 MSTN NM_005259.2(MSTN): c.551C> T (p.Thr184Ile) single nucleotide variant Uncertain significance rs369290669 GRCh37 Chromosome 2, 190924984: 190924984
31 MSTN NM_005259.2(MSTN): c.551C> T (p.Thr184Ile) single nucleotide variant Uncertain significance rs369290669 GRCh38 Chromosome 2, 190060258: 190060258
32 MSTN NM_005259.2(MSTN): c.466C> A (p.Leu156Ile) single nucleotide variant Likely benign rs35493945 GRCh37 Chromosome 2, 190925069: 190925069
33 MSTN NM_005259.2(MSTN): c.466C> A (p.Leu156Ile) single nucleotide variant Likely benign rs35493945 GRCh38 Chromosome 2, 190060343: 190060343
34 MSTN NM_005259.2(MSTN): c.-17A> C single nucleotide variant Uncertain significance rs201887141 GRCh37 Chromosome 2, 190927339: 190927339
35 MSTN NM_005259.2(MSTN): c.-17A> C single nucleotide variant Uncertain significance rs201887141 GRCh38 Chromosome 2, 190062613: 190062613
36 MSTN NM_005259.2(MSTN): c.*1362A> G single nucleotide variant Likely benign rs377503267 GRCh37 Chromosome 2, 190920622: 190920622
37 MSTN NM_005259.2(MSTN): c.*697T> C single nucleotide variant Likely benign rs186458339 GRCh37 Chromosome 2, 190921287: 190921287
38 MSTN NM_005259.2(MSTN): c.*493G> A single nucleotide variant Benign rs16832285 GRCh37 Chromosome 2, 190921491: 190921491
39 MSTN NM_005259.2(MSTN): c.*1362A> G single nucleotide variant Likely benign rs377503267 GRCh38 Chromosome 2, 190055896: 190055896
40 MSTN NM_005259.2(MSTN): c.*697T> C single nucleotide variant Likely benign rs186458339 GRCh38 Chromosome 2, 190056561: 190056561
41 MSTN NM_005259.2(MSTN): c.*135G> A single nucleotide variant Benign rs60490864 GRCh38 Chromosome 2, 190057123: 190057123
42 MSTN NM_005259.2(MSTN): c.*135G> A single nucleotide variant Benign rs60490864 GRCh37 Chromosome 2, 190921849: 190921849
43 MSTN NM_005259.2(MSTN): c.*121A> G single nucleotide variant Uncertain significance rs886055372 GRCh37 Chromosome 2, 190921863: 190921863
44 MSTN NM_005259.2(MSTN): c.*121A> G single nucleotide variant Uncertain significance rs886055372 GRCh38 Chromosome 2, 190057137: 190057137
45 MSTN NM_005259.2(MSTN): c.674T> C (p.Ile225Thr) single nucleotide variant Likely benign rs143242500 GRCh37 Chromosome 2, 190924861: 190924861
46 MSTN NM_005259.2(MSTN): c.674T> C (p.Ile225Thr) single nucleotide variant Likely benign rs143242500 GRCh38 Chromosome 2, 190060135: 190060135
47 MSTN NM_005259.2(MSTN): c.*1514C> G single nucleotide variant Benign rs12105165 GRCh38 Chromosome 2, 190055744: 190055744
48 MSTN NM_005259.2(MSTN): c.*1514C> G single nucleotide variant Benign rs12105165 GRCh37 Chromosome 2, 190920470: 190920470
49 MSTN NM_005259.2(MSTN): c.*1203G> C single nucleotide variant Benign rs3187415 GRCh38 Chromosome 2, 190056055: 190056055
50 MSTN NM_005259.2(MSTN): c.*1203G> C single nucleotide variant Benign rs3187415 GRCh37 Chromosome 2, 190920781: 190920781

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

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