OMIA group 1493
Porphyria, acute intermittent
The chain reaches the human disease acute intermittent porphyria (autosomal dominant), which Mondo defines as: “Acute intermittent porphyria caused by heterozygous (monoallelic) variant in HMBS inherited in an autosomal dominant inheritance pattern, and characterized by the occurrence of neuro-visceral attacks typically without cutaneous manifestations.”
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 0.86.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
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.
79.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.1 of 35 |
| Drugs | A drug has reached phase 2 for this disease | 15.0 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 | 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 |
|---|---|---|---|
| domestic cat | Felis catus | OMIA:001493-9685 | 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 cat | HMBS hydroxymethylbilane synthase NCBI Gene 100127114 | HMBS 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:0008294 | acute intermittent porphyria (autosomal dominant) Acute intermittent porphyria caused by heterozygous (monoallelic) variant in HMBS inherited in an autosomal dominant inheritance pattern, and characterized by the occurrence of neuro-visceral attacks typically without cutaneous manifestations. | 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 |
|---|---|---|---|---|
| HMBS | acute intermittent porphyria (autosomal dominant) | 0.86 | 589 | Genetic association 0.95 Genetic literature 0.86 Literature 0.28 Animal model 0.26 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.