Comparative

OMIA group 2161

Leg weakness, MSTN-related

The chain reaches the human disease myostatin-related muscle hypertrophy, which Mondo defines as: “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.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 1 species entry marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.50.

  5. Drugs

    Reached

    7 ChEMBL drugs, 0 approved. None has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

myostatin-related muscle hypertrophy

49.1 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.50 17.6 of 35
Drugs Drugs act on its genes, but no drug has been tested for this disease 2.5 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes One route found this disease 5.0 of 10
Species 1 naturally occurring species entry marked as a defect 4.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
pig Sus scrofa OMIA:002161-9823 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
pig MSTN myostatin NCBI Gene 399534 MSTN Ensembl one to one

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0013598 myostatin-related muscle hypertrophy 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. OMIA's OMIM numbers

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
MSTN myostatin-related muscle hypertrophy 0.50 57 Genetic association 0.66 Genetic literature 0.61 Animal model 0.54

Drugs

Drugs act on MSTN, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Apitegromab MSTN inhibitor Phase 3 No
Domagrozumab MSTN inhibitor Phase 2 No
Landogrozumab MSTN inhibitor Phase 2 No
Ramatercept MSTN inhibitor Phase 2 No
Trevogrumab MSTN inhibitor Phase 2 No
Stamulumab MSTN inhibitor Phase 1/2 No
Pf-03446879 MSTN inhibitor Unknown No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.