/macrothrombocytopenia, isolated, 1, autosomal dominant

macrothrombocytopenia, isolated, 1, autosomal dominant

Rare Disease

MONDO:0800047

Also Known As

MACTHC1TUBB1 autosomal dominant macrothrombocytopeniaautosomal dominant macrothrombocytopenia caused by mutation in TUBB1macrothrombocytopenia, autosomal dominant, TUBB1-relatedautosomal dominant macrothrombocytopenia TUBB1-related

Definition

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

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Associated Genes

TUBB1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:613112 ↗

GARD

GARD:18271 ↗

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