OMIA group 2258
Lethality, SOWAHB-related
The chain reaches the human disease thrombocytopenia 2, which Mondo defines as: “An autosomal dominant thrombocytopenia caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability, mild to moderate reductions in platelet count, platelets that are generally normal in size, and a mild mucocutaneous bleeding tendency. Individuals show normal platelet ultrastructure and typically have no associated syndromic abnormalities, but megakaryocyte maturation is abnormal, reflecting dysregulated thrombopoiesis. Pathogenic variants occur exclusively in the 5' untranslated region (5'UTR) of ANKRD26, and variants cause gain-of-function overexpression during megakaryopoiesis, disrupting normal signaling and impairing proplatelet formation.”
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
Reached
1 human gene.
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Target evidence
Stopped here
Open Targets links none of the group's human genes to any of its human diseases.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Target evidence: Open Targets links none of the group's human genes to any of its human diseases.
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.
29.0 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 | 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 |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:002258-9913 | 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 cattle | SOWAHB sosondowah ankyrin repeat domain family member B NCBI Gene 512359 | SOWAHB Ensembl | one to one |
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:0008555 | thrombocytopenia 2 An autosomal dominant thrombocytopenia caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability, mild to moderate reductions in platelet count, platelets that are generally normal in size, and a mild mucocutaneous bleeding tendency. Individuals show normal platelet ultrastructure and typically have no associated syndromic abnormalities, but megakaryocyte maturation is abnormal, reflecting dysregulated thrombopoiesis. Pathogenic variants occur exclusively in the 5' untranslated region (5'UTR) of ANKRD26, and variants cause gain-of-function overexpression during megakaryopoiesis, disrupting normal signaling and impairing proplatelet formation. | 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.