Comparative

OMIA group 519

Hypoadrenocorticism

The chain reaches the human disease autoimmune polyendocrine syndrome type 1, which Mondo defines as: “Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.” It reaches 1 more human disease, listed below.

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 4 species entries marked as a defect.

  2. Human disease

    Reached

    2 Mondo diseases.

  3. Human gene

    Stopped here

    No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

  4. Target evidence

    Not reached

    The chain stopped before this step.

  5. Drugs

    Not reached

    The chain stopped before this step.

The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.

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.

chronic primary adrenal insufficiency

40.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 4 naturally occurring species entries marked as a defect 10.0 of 10
autoimmune polyendocrine syndrome type 1

30.0 out of 100

Part Computed from Points
Target evidence No Open Targets association with this disease 0.0 of 35
Drugs A drug has reached phase 2 for this disease 15.0 of 25
Ortholog No gene of a naturally occurring entry reaches a human gene 0.0 of 20
Both routes One route found this disease 5.0 of 10
Species 4 naturally occurring species entries marked as a defect 10.0 of 10

Species

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

Species Scientific name OMIA entry A defect
dog Canis lupus familiaris OMIA:000519-9615 Yes
domestic cat Felis catus OMIA:000519-9685 Yes
goat Capra hircus OMIA:000519-9925 Yes
horse Equus caballus OMIA:000519-9796 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
dog No gene OMIA records no gene for this species entry.
domestic cat No gene OMIA records no gene for this species entry.
goat No gene OMIA records no gene for this species entry.
horse No gene OMIA records no gene for this species entry.

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:0009411 autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. OMIA's OMIM numbers
MONDO:0015129 chronic primary adrenal insufficiency A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. 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.

The chain did not reach target evidence.

Drugs

The chain did not reach the drugs.