OMIA group 2217

Hyperphagia leading to hepatic steatosis

The chain reaches the human disease obesity due to melanocortin 4 receptor deficiency, which Mondo defines as: “Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.”

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.

Animal disease

Reached

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

Reached

1 Mondo disease.
Human gene

Reached

1 human gene.
Target evidence

Reached

1 Open Targets association, with a best score of 0.69.
Drugs

Reached

3 ChEMBL drugs, 2 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.

obesity due to melanocortin 4 receptor deficiency

55.6 out of 100

Part	Computed from	Points
Target evidence	Open Targets score of 0.69	24.1 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 Naturally occurring, and also genetically engineered.	Sus scrofa	OMIA:002217-9823	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	MC4R melanocortin 4 receptor NCBI Gene 397359	MC4R 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.

OMIA's own Mondo link: found a disease.
OMIA's OMIM numbers: No current Mondo disease is the same disease as the group's OMIM numbers.

Mondo disease	Name	Found by
MONDO:0019115	obesity due to melanocortin 4 receptor deficiency Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.	OMIA's own Mondo link

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
MC4R	obesity due to melanocortin 4 receptor deficiency	0.69	2,227	Animal model 0.98 Literature 0.97 Genetic association 0.82

Drugs

Drugs act on MC4R, but none has been tested for this disease.

Drug	Acts on	How	Latest stage	Tested for this disease
Bremelanotide	MC4R	agonist	Approved	No
Setmelanotide	MC4R	agonist	Approved	No
Pf-00446687	MC4R	agonist	Phase 2	No

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