OMIA group 664
Mucopolysaccharidosis I
The chain reaches the human disease Hurler-Scheie syndrome, which Mondo defines as: “Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.” It reaches 2 more human diseases, listed below.
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 4 species entries marked as a defect.
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Human disease
Reached
3 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
3 Open Targets associations, 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.
84.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
79.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.8 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 | One route found this disease | 5.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect | 10.0 of 10 |
74.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.7 of 35 |
| Drugs | A drug has reached phase 1 for this disease | 10.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 4 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:000664-9615 | Yes |
| domestic cat | Felis catus | OMIA:000664-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000664-9913 | Yes |
| Japanese macaque | Macaca fuscata | OMIA:000664-9542 | 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 |
|---|---|---|---|
| dog | IDUA iduronidase, alpha-L- NCBI Gene 100505382 | IDUA Ensembl | one to one |
| domestic cat | IDUA iduronidase, alpha-L- NCBI Gene 101095896 | Ensembl does not know this NCBI Gene identifier. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| Japanese macaque | IDUA α-L-iduronidase | No NCBI Gene identifier in OMIA. | |
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:0011759 | Hurler-Scheie syndrome Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. | OMIA's OMIM numbers |
| MONDO:0011758 | Hurler syndrome Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. | OMIA's OMIM numbers |
| MONDO:0011760 | Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. | 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.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| IDUA | Hurler syndrome | 0.85 | 478 | Genetic association 0.94 Genetic literature 0.91 Animal model 0.48 Literature 0.24 |
| IDUA | Scheie syndrome | 0.85 | 493 | Genetic association 0.92 Genetic literature 0.87 Animal model 0.46 Literature 0.34 |
| IDUA | Hurler-Scheie syndrome | 0.85 | 238 | Genetic association 0.93 Genetic literature 0.91 Animal model 0.44 Literature 0.16 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.