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platelet-type bleeding disorder 19 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

platelet-type bleeding disorder 19

MONDO:0014518

Also known as:BDPLT19PRKACG isolated hereditary giant platelet disorderisolated hereditary giant platelet disorder caused by mutation in PRKACG

Overview

Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.

GeneticsAutosomal recessive · PRKACG (chr 9)

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 always present findings: Abnormal bleeding tendency (abnormal bleeding), Menorrhagia, Macrothrombocytopenia, and Epistaxis and others; and common findings: Low red blood cell count (anemia) and Spontaneous hematomas.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Abnormal bleeding tendency (abnormal bleeding), Low red blood cell count (anemia), Low platelet count (thrombocytopenia)

Genetic Landscape

PRKACG function has not been fully characterized.

Diagnosis

Genetic testing for PRKACG is available. Testing is considered disputed for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616176

Orphanet

European rare disease database

Orphanet:438207

GARD

Genetic and Rare Diseases Info Center

GARD:17738

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 19

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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