OMIA group 2434
Thrombocytopenia, TUBB1-related
The chain reaches the human disease macrothrombocytopenia, isolated, 1, autosomal dominant, which Mondo defines as: “Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene, characterized by mild to moderate thrombocytopenia with large platelets and normal or near-normal bleeding symptoms. Structural studies in patient platelets show disorganized or reduced beta1-tubulin staining and abnormal marginal microtubule bands, impairing proplatelet formation and leading to fewer, larger circulating platelets. Functional platelet assays in affected individuals typically show qualitatively normal aggregation, with the clinical phenotype driven primarily by reduced platelet number rather than intrinsic platelet-function defects.”
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
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
9.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:002434-9615 | 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 | 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0800047 | macrothrombocytopenia, isolated, 1, autosomal dominant Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene, characterized by mild to moderate thrombocytopenia with large platelets and normal or near-normal bleeding symptoms. Structural studies in patient platelets show disorganized or reduced beta1-tubulin staining and abnormal marginal microtubule bands, impairing proplatelet formation and leading to fewer, larger circulating platelets. Functional platelet assays in affected individuals typically show qualitatively normal aggregation, with the clinical phenotype driven primarily by reduced platelet number rather than intrinsic platelet-function defects. | 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.