platelet-type bleeding disorder 19
Findings
No curated finding names platelet-type bleeding disorder 19 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
Definition from the Mondo Disease Ontology (MONDO:0014518), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal bleedingHPOHP:0001892
- 2 of 2 reported patients
- EpistaxisHPOHP:0000421
- 2 of 2 reported patients
- MacrothrombocytopeniaHPOHP:0040185
- 2 of 2 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient · Female
- ThrombocytopeniaHPOHP:0001873
- 2 of 2 reported patients
- AnemiaHPOHP:0001903
- 1 of 2 reported patients
- Spontaneous hematomasHPOHP:0007420
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNEHGNC:23657
- Supportive · Orphanet · Autosomal recessive · 2021
- PRKACGHGNC:9382
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
- Disputed Evidence · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: platelet-type bleeding disorder 19
- Also called
- BDPLT19isolated hereditary giant platelet disorder caused by mutation in PRKACGPRKACG isolated hereditary giant platelet disordersevere autosomal recessive macrothrombocytopenia