Comparative

OMIA group 452

Henny feathering

The chain reaches the human disease aromatase excess syndrome, which Mondo defines as: “Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.”

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 0.63.

  5. Drugs

    Reached

    6 ChEMBL drugs, 6 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.

aromatase excess syndrome

53.6 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.63 22.1 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
chicken Gallus gallus OMIA:000452-9031 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
chicken CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 NCBI Gene 414854 CYP19A1 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:0007690 aromatase excess syndrome Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. 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
CYP19A1 aromatase excess syndrome 0.63 36 Genetic association 0.77 Genetic literature 0.61 Animal model 0.39 Literature 0.11

Drugs

Drugs act on CYP19A1, but none has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Aminoglutethimide CYP19A1 inhibitor Approved No
Anastrozole CYP19A1 inhibitor Approved No
Exemestane CYP19A1 inhibitor Approved No
Fadrozole CYP19A1 inhibitor Approved No
Letrozole CYP19A1 inhibitor Approved No
Testolactone CYP19A1 inhibitor Approved No

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