Human disease
Hermansky-Pudlak syndrome 5
Mondo defines it 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.”
1 disease group in OMIA reaches this disease, through OMIA's own Mondo link or its OMIM numbers. The page shows the chain. It does not say whether an animal is a model of this disease.
Animal diseases
By natural-model score for this disease, highest first. The score says how complete and how well supported each chain is, by stated rules. How the score works.
| OMIA group | Name | Found by | Species | The chain reached | Score |
|---|---|---|---|---|---|
| 2116 | Coat colour, albinism, oculocutaneous, HPS5-related | OMIA's OMIM numbers | 3 | Human gene |
32.0
|
Human genes
Each human gene of these disease groups that Open Targets links to this disease.
Open Targets links none of these groups' human genes to this disease.
Drugs tested for this disease
Each ChEMBL drug that has been tested for this disease, and the human genes above it acts on, if any. Open Targets gives some drugs, such as most enzyme replacement therapies, no target gene.
No drug has been tested for this disease.