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Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Features include always present findings: Menorrhagia, Prolonged bleeding time, Prolonged bleeding after dental extraction, and Bruising susceptibility and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 4 | Prolonged bleeding time, Prolonged bleeding after dental extraction, Impaired epinephrine-induced platelet aggregation |
RASGRP2 function has not been fully characterized.
Platelet-type bleeding disorder 18 is caused by mutations in the RASGRP2 gene on chromosome 11.
Genetic testing for RASGRP2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for platelet-type bleeding disorder 18 has been reported in the published literature.
Phenotype severity distribution: 7 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for platelet-type bleeding disorder 18.
5 publications have been identified in PubMed for platelet-type bleeding disorder 18. Research spans Basic Science / Preclinical (40%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).
Sánchez-Fuentes A (2025). [PMID: 40563486](https://pubmed.ncbi.nlm.nih.gov/40563486/). *Biomolecules*. [Review / Meta-Analysis]
Broojerdi MH (2025). [PMID: 40651280](https://pubmed.ncbi.nlm.nih.gov/40651280/). *Transfus Apher Sci*. [Basic Science / Preclinical]
Shi ZY (2024). [PMID: 39512176](https://pubmed.ncbi.nlm.nih.gov/39512176/). *Platelets*. [Case Report / Case Series]
Lee RH (2024). [PMID: 38798516](https://pubmed.ncbi.nlm.nih.gov/38798516/). *bioRxiv*. [Basic Science / Preclinical]
Lee RH (2024). [PMID: 38992342](https://pubmed.ncbi.nlm.nih.gov/38992342/). *J Thromb Haemost*. [Diagnostic / Biomarker]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning platelet-type bleeding disorder 18
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.
Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. Seaport will use the funds for its neuropsychiatric drug pipeline, while Hemab will focus on bleeding disorder medicines. ... The value of IPOs so far this year suggests the sector is winning the battle against macroeconomic policy shifts in the US. Credit: Billion Photos/Shutterstock.com. Seaport Therapeutics and Hemab Therapeutics have both outlined pricings for their respective initial public offerings (IPOs), adding to an already busy month for biotechs making the public jump. Sutacimig, also known as HMB-001, is set to command most of the IPO funds. Around $120m will be put towards the asset’s clinical development in the two bleeding disorders. Around $60m will be used to advance clinical development of HMB-002, the biotech’s monovalent antibody in Phase I/II development for the subcutaneous prophylactic treatment of Von Willebrand Disease. GlyphAllo, also known as SPT-300, has been designed using Seaport’s Glyph platform, which the biotech says overcomes bioavailability and first-pass metabolism limitations. These hurdles have historically plagued treatments targeted against neuropsychiatric disorders. Seaport’s platform employs the lymphatic system’s natural lipid absorption and transport process to bypass the liver, which should also help reduce hepatotoxicity. Around $121m of the IPO raise will help fund GlyphAllo through a Phase IIb trial (NCT07065240) and into Phase III development. Seaport, a biotech developing treatments in the neuropsychiatric space, is offering 11.8 million shares priced between $16 and $18 each on the Nasdaq. If the IPO settles in the midpoint of this range, the biotech estimates net proceeds of $183.5m, which could rise by a further $27.9m based on the underwriters’ option.
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.