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

–

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Report Generation Failed

We couldn't automatically generate the report. This may be due to temporary service issues.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

Companies Active in macrothrombocytopenia, isolated, 1, autosomal dominant

1 company

Organizations with orphan designations or approved therapies for this disease

SynaptixBio Ltd.

Other

Designated

View all companies

macrothrombocytopenia, isolated, 1, autosomal dominant

Patient-Friendly Information

Need this data in your product?

Scientific Intelligence

Companies Active in macrothrombocytopenia, isolated, 1, autosomal dominant