platelet-type bleeding disorder 19

Rare Disease

MONDO:0014518

Also Known As

BDPLT19PRKACG isolated hereditary giant platelet disorderisolated hereditary giant platelet disorder caused by mutation in PRKACGsevere autosomal recessive macrothrombocytopeniableeding disorder, platelet-type, 19

Definition

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

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Comprehensive, easy-to-understand information about this condition

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Associated Genes

PRKACG ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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platelet-type bleeding disorder 19

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

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