OMIA group 185
Chediak-Higashi syndrome
The chain reaches the human disease Chediak-Higashi syndrome, which Mondo defines as: “A rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding (caused by giant lysosome‑related organelles in multiple hematopoietic cells), neurological dysfunction and lymphoproliferative disorder. Affected individuals commonly develop progressive immune dysregulation, and many experience an accelerated phase resembling hemophagocytic lymphohistiocytosis, which can be life‑threatening. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described.”
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 5 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
Reached
1 Open Targets association, with a best score of 0.85.
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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.
74.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.9 of 35 |
| Drugs | A drug has reached unknown for this disease | 5.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 5 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 |
|---|---|---|---|
| American mink | Neogale vison | OMIA:000185-452646 | Yes |
| Arctic fox | Vulpes lagopus | OMIA:000185-494514 | Yes |
| domestic cat | Felis catus | OMIA:000185-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000185-9913 | Yes |
| killer whale | Orcinus orca | OMIA:000185-9733 | 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 |
|---|---|---|---|
| American mink | LYST NCBI Gene 122900571 | Ensembl does not know this NCBI Gene identifier. | |
| Arctic fox | No gene | OMIA records no gene for this species entry. | |
| domestic cat | LYST lysosomal trafficking regulator NCBI Gene 101081414 | LYST Ensembl | one to one |
| domestic cattle | LYST lysosomal trafficking regulator NCBI Gene 281072 | LYST Ensembl | one to one |
| killer whale | 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.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0008963 | Chediak-Higashi syndrome A rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding (caused by giant lysosome‑related organelles in multiple hematopoietic cells), neurological dysfunction and lymphoproliferative disorder. Affected individuals commonly develop progressive immune dysregulation, and many experience an accelerated phase resembling hemophagocytic lymphohistiocytosis, which can be life‑threatening. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. | 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 |
|---|---|---|---|---|
| LYST | Chediak-Higashi syndrome | 0.85 | 3,773 | Genetic association 0.91 Genetic literature 0.86 Animal model 0.53 Literature 0.38 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.