OMIA group 2116
Coat colour, albinism, oculocutaneous, HPS5-related
The chain reaches the human disease Hermansky-Pudlak syndrome 5, which Mondo defines as: “Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene, producing melanosome defects and absence of platelet dense bodies. Individuals typically show oculocutaneous albinism (often mild) with visual impairment and a platelet‑type bleeding diathesis.”
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 2 species entries 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
Stopped here
None of the group's human diseases is in Open Targets.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Target evidence: None of the group's human diseases is in Open Targets.
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.
32.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 2 naturally occurring species entries marked as a defect | 7.0 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:002116-9685 | Yes |
| horse | Equus caballus | OMIA:002116-9796 | No, not counted |
| three-spined stickleback | Gasterosteus aculeatus | OMIA:002116-69293 | 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 | HPS5 Hermansky-Pudlak syndrome 5 NCBI Gene 101099749 | HPS5 Ensembl | one to one |
| three-spined stickleback | Hps5 NCBI Gene 120808672 | Ensembl has no gene cross-references for this species. | |
| horse Not a defect, not counted | HPS5 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 NCBI Gene 100071855 | Ensembl does not know this NCBI Gene identifier. | |
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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0013557 | Hermansky-Pudlak syndrome 5 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene, producing melanosome defects and absence of platelet dense bodies. Individuals typically show oculocutaneous albinism (often mild) with visual impairment and a platelet‑type bleeding diathesis. | 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.