OMIA group 2293
Phenylketonuria
The chain reaches the human disease phenylketonuria, which Mondo defines as: “A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability.”
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.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.89.
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Drugs
Reached
1 ChEMBL drug, 1 approved. At least one 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.
66.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.89 | 31.0 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 | Both routes found this disease | 10.0 of 10 |
| Species | 0 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002293-9823 | 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 | PAH NCBI Gene 100521900 | PAH 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: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009861 | phenylketonuria A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. | 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 |
|---|---|---|---|---|
| PAH | phenylketonuria | 0.89 | 3,210 | Genetic association 0.98 Known drug 0.95 Genetic literature 0.84 Affected pathway 0.61 Animal model 0.49 Literature 0.49 |
Drugs
A drug acts on PAH and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Sapropterin | PAH | activator | Approved | Approved for phenylketonuria |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.