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platelet-type bleeding disorder 12 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 12

MONDO:0011588

Also known as:BDPLT12PGHS1 deficiencyplatelet COX1 deficiency

Overview

An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

GeneticsAutosomal dominant

Newborn ScreeningAll 50 states + 3 territories (Biotinidase Deficiency)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Menorrhagia, Intestinal bleeding, Impaired platelet aggregation, and Bruising susceptibility and 2 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	2	Intestinal bleeding, Impaired platelet aggregation

Diagnosis

Platelet-type bleeding disorder 12 is included in newborn screening programs (Biotinidase Deficiency) in all 50 states and 3 territories.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for platelet-type bleeding disorder 12.

9 publications have been identified in PubMed for platelet-type bleeding disorder 12. Research spans Basic Science / Preclinical (56%), Case Report / Case Series (22%), and Epidemiology / Natural History (22%).

Recent Publications

Coe B (2026). [PMID: 42037817](https://pubmed.ncbi.nlm.nih.gov/42037817/). *Cureus*. [Case Report / Case Series]
Hai L (2026). [PMID: 40235276](https://pubmed.ncbi.nlm.nih.gov/40235276/). *Br J Haematol*. [Basic Science / Preclinical]
Khalifa GLAH (2025). [PMID: 40074839](https://pubmed.ncbi.nlm.nih.gov/40074839/). *Ann Hematol*. [Epidemiology / Natural History]
Mourikis P (2025). [PMID: 40397711](https://pubmed.ncbi.nlm.nih.gov/40397711/). *Sci Transl Med*. [Basic Science / Preclinical]
Shahbazi M (2025). [PMID: 40333031](https://pubmed.ncbi.nlm.nih.gov/40333031/). *Blood Coagul Fibrinolysis*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 4:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:605735

Questions for Your Care Team

→What follow-up testing and early intervention is recommended after a positive newborn screen?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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platelet-type bleeding disorder 12

Overview

Clinical Presentation

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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