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Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.
Features include always present findings: Increased mean platelet volume, Low platelet count (thrombocytopenia), and Platelet anisocytosis; and sometimes findings: Epistaxis. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Increased mean platelet volume, Low platelet count (thrombocytopenia), Impaired ADP-induced platelet aggregation |
ACTN1 encodes actinin alpha 1 (892 aa). F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. Highest expression in Artery Aorta (755.0 TPM) and Artery Tibial (656.2 TPM).
Platelet-type bleeding disorder 15 is caused by mutations in the ACTN1 gene on chromosome 14.
ACTN1 is classified as a druggable target (Druggable Genome category) with score 26.1.
35 pathogenic variants reported in ACTN1 in ClinVar, including hotspot variant 42030.
Variant | Significance |
|---|
Genetic testing for ACTN1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for platelet-type bleeding disorder 15 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for platelet-type bleeding disorder 15.
5 publications have been identified in PubMed for platelet-type bleeding disorder 15. Research spans Review / Meta-Analysis (40%), Diagnostic / Biomarker (20%), and Case Report / Case Series (20%).
Brillon C (2026). [PMID: 41063703](https://pubmed.ncbi.nlm.nih.gov/41063703/). *Haematologica*. [Review / Meta-Analysis]
Hassan E (2025). [PMID: 40486211](https://pubmed.ncbi.nlm.nih.gov/40486211/). *Res Pract Thromb Haemost*. [Diagnostic / Biomarker]
Safdari SM (2025). [PMID: 41316200](https://pubmed.ncbi.nlm.nih.gov/41316200/). *Thromb J*. [Review / Meta-Analysis]
Huang C (2025). [PMID: 39757988](https://pubmed.ncbi.nlm.nih.gov/39757988/). *Ann Med*. [Basic Science / Preclinical]
Montague SJ (2024). [PMID: 38492852](https://pubmed.ncbi.nlm.nih.gov/38492852/). *Journal of thrombosis and haemostasis : JTH*. [Case Report / Case Series]
Data assembled from 7 of 12 sources · Last updated Sep 17, 2026, 9:52 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Review Stars
Hotspot |
|---|
42030 | Conflicting classifications of pathogenicity | — | Yes |
AI-curated news mentioning platelet-type bleeding disorder 15
Updated Aug 11, 2026
Hereditary hemorrhagic telangiectasia has never had an approved treatment anywhere in the world -- until now, Vaderis Therapeutics launched HEROIC, the first-ever global Phase 3 clinical trial for HHT, backed by $152 million in new funding and proof-of-concept data showing 41% bleeding reduction Swiss biotech Vaderis Therapeutics announced today that it has closed an oversubscribed $152 million Series B financing round and simultaneously launched HEROIC, the first-ever global Phase 3 clinical trial specifically designed to win regulatory approval for a drug targeting hereditary hemorrhagic telangiectasia (HHT). The announcement came via press release. The disease has been recognized since the 19th century, carries the names of three physicians who independently described it between 1896 and 1907, and has never once had an approved pharmacological treatment anywhere in the world. That record of therapeutic abandonment — the longest per-patient unmet need of any disease classified as the second most common inherited bleeding disorder — is what HEROIC is designed to end. Managing a reversible rash and monitoring blood sugar is a different clinical reality than managing broad-spectrum kinase off-target toxicity in a non-cancer population. The scientific foundation for HEROIC is unusually strong for a Phase 3 launch in rare disease. The full investor list and CEO statement appear in the August 11, 2026 press release. The round was described as oversubscribed — meaning investor demand exceeded the offered raise, a meaningful signal in a selective clinical-stage rare disease financing market. Its success or failure will determine whether AKT inhibition becomes a third oncology drug class with validated non-malignant rare disease applications — joining mTOR and MEK as confirmed disease-modifying mechanisms beyond tumor biology. The implications extend beyond HHT: PIK3CA-related overgrowth spectrum, PTEN hamartoma tumor syndrome, and other rare conditions driven by PI3K/AKT pathway hyperactivation share mechanistic kinship with HHT's AKT excess, and HEROIC's outcome will shape whether AKT inhibitors enter clinical development for those diseases as well.
Drug developers Seaport Therapeutics and Hemab Therapeutics launched their U.S. initial public offerings on Monday, seeking to capitalize on a growing investor appetite for new listings. Earlier on Monday, space analytics firm HawkEye 360 and organic juice maker Suja Life also launched their IPOs, as issuers moved quickly to tap the reopening window. Pulmonary fibrosis biotech Avalyn Pharma also launched its U.S. IPO last week. Boston-based Seaport is seeking to raise up to $212.4 million by offering 11.8 million shares priced between $16 and $18 each, which could value the company at up to about $912 million. The clinical-stage biotech is developing oral therapies for depression, anxiety and other neuropsychiatric disorders. Hemab is focused on treatments for rare blood-clotting and bleeding disorders. Its lead candidate is being developed as a preventive treatment for rare inherited bleeding disorders Glanzmann thrombasthenia and Factor VII deficiency.