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platelet-type bleeding disorder 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 10

MONDO:0012031

Also known as:BDPLT10CD36 deficiencyCD36 inherited bleeding disorder, platelet-type

Overview

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.

GeneticsAutosomal recessive · CD36 (chr 7)

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: Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Giant platelets, and Low platelet count (thrombocytopenia).

Organ System	Phenotype Count	Example Features
Blood and immune system	4	Abnormal bleeding tendency (abnormal bleeding), Prolonged bleeding time, Giant platelets

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Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CD36 encodes CD36 molecule (CD36 blood group) (472 aa). Multifunctional glycoprotein that acts as a receptor for a broad range of ligands. Highest expression in Adipose Visceral Omentum (549.0 TPM) and Adipose Subcutaneous (535.0 TPM).

Platelet-type bleeding disorder 10 is associated with mutations in the CD36 gene on chromosome 7.

The CD36 protein participates in Ligands of SCARB1 pathway.

CD36 is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, External Side Of Plasma Membrane, Transporter, and Tyrosine Kinase categories) with score 13.1.

Diagnosis

Genetic testing for CD36 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for platelet-type bleeding disorder 10 has been reported in the published literature.

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 10.

26 publications have been identified in PubMed for platelet-type bleeding disorder 10. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (23%), and Gene Therapy / Novel Therapeutics (12%).

Research Type	Count	% of Total
Laboratory research	10	38%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608404

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 10

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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