macrothrombocytopenia, isolated, 1, autosomal dominant

Rare Disease

MONDO:0800047

Also known as:

MACTHC1TUBB1 autosomal dominant macrothrombocytopeniaautosomal dominant macrothrombocytopenia caused by mutation in TUBB1

Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene.

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Companies Active in macrothrombocytopenia, isolated, 1, autosomal dominant

0 approved

Organizations with approved therapies for this disease

No approved therapies yet

Research is ongoing — 1 company has orphan drug designations for this disease

SynaptixBio Ltd.

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macrothrombocytopenia, isolated, 1, autosomal dominant

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Companies Active in macrothrombocytopenia, isolated, 1, autosomal dominant

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