Comparative

OMIA group 683

Muscular hypertrophy (double muscling)

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 2 species entries 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

54.1 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 Both routes found this disease 10.0 of 10
Species 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted 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
chicken Genetically engineered, not naturally occurring. Not counted in the score. Gallus gallus OMIA:000683-9031 No, not counted
dog Naturally occurring, and also genetically engineered. Canis lupus familiaris OMIA:000683-9615 No, not counted
domestic cattle Naturally occurring, and also genetically engineered. Bos taurus OMIA:000683-9913 Yes
goat Naturally occurring, and also genetically engineered. Capra hircus OMIA:000683-9925 No, not counted
Japanese flounder Genetically engineered, not naturally occurring. Not counted in the score. Paralichthys olivaceus OMIA:000683-8255 No, not counted
Japanese quail Genetically engineered, not naturally occurring. Not counted in the score. Coturnix japonica OMIA:000683-93934 Unknown, not counted
mallard Genetically engineered, not naturally occurring. Not counted in the score. Anas platyrhynchos OMIA:000683-8839 Unknown, not counted
Nile tilapia Oreochromis niloticus OMIA:000683-8128 No, not counted
pacu Piaractus mesopotamicus OMIA:000683-42528 No, not counted
pig Naturally occurring, and also genetically engineered. Sus scrofa OMIA:000683-9823 No, not counted
rabbit Genetically engineered, not naturally occurring. Not counted in the score. Oryctolagus cuniculus OMIA:000683-9986 Unknown, not counted
red seabream Genetically engineered, not naturally occurring. Not counted in the score. Pagrus major OMIA:000683-143350 No, not counted
rock pigeon Columba livia OMIA:000683-8932 No, not counted
sheep Naturally occurring, and also genetically engineered. Ovis aries OMIA:000683-9940 No, not counted
water buffalo Genetically engineered, not naturally occurring. Not counted in the score. Bubalus bubalis OMIA:000683-89462 No, not counted
yellow catfish Genetically engineered, not naturally occurring. Not counted in the score. Tachysurus fulvidraco OMIA:000683-1234273 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
domestic cattle MSTN myostatin NCBI Gene 281187 MSTN Ensembl one to one
yellow catfish No gene OMIA records no gene for this species entry.
chicken Not a defect, not counted MSTN myostatin NCBI Gene 373964 MSTN Ensembl one to one
dog Not a defect, not counted MSTN myostatin NCBI Gene 403433 MSTN Ensembl one to one
goat Not a defect, not counted MSTN myostatin NCBI Gene 100860887 MSTN Ensembl one to one
Japanese flounder Not a defect, not counted MSTN No NCBI Gene identifier in OMIA.
Japanese quail Not a defect, not counted MSTN myostatin NCBI Gene 107316428 MSTN Ensembl one to one
mallard Not a defect, not counted No gene OMIA records no gene for this species entry.
Nile tilapia Not a defect, not counted No gene OMIA records no gene for this species entry.
pacu Not a defect, not counted No gene OMIA records no gene for this species entry.
pig Not a defect, not counted MSTN myostatin NCBI Gene 399534 MSTN Ensembl one to one
rabbit Not a defect, not counted MSTN myostatin NCBI Gene 100125998 MSTN Ensembl one to one
red seabream Not a defect, not counted MSTN No NCBI Gene identifier in OMIA.
rock pigeon Not a defect, not counted MSTN myostatin NCBI Gene 102098948 Ensembl has no gene cross-references for this species.
sheep Not a defect, not counted MSTN myostatin NCBI Gene 443449 MSTN Ensembl one to one
water buffalo Not a defect, not counted MSTN myostatin NCBI Gene 102414042 Ensembl has no gene cross-references for this species.

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. Both routes

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.