platelet-type bleeding disorder 18
Findings
No curated finding names platelet-type bleeding disorder 18 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0014386), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood 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.
- Bruising susceptibilityHPOHP:0000978
- 3 of 3 reported patients
- EpistaxisHPOHP:0000421
- 3 of 3 reported patients
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- 3 of 3 reported patients
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- 3 of 3 reported patients
- MenorrhagiaHPOHP:0000132
- 1 of 1 reported patient
- Prolonged bleeding after dental extractionHPOHP:0006298
- 3 of 3 reported patients
- Prolonged bleeding timeHPO
Genes
1 gene
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.
- RASGRP2HGNC:9879
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · LiferaOmics · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: platelet-type bleeding disorder 18
- Also called
- BDPLT18bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiencybleeding disorder due to CalDAG-GEFI deficiencyinherited bleeding disorder, platelet-type caused by mutation in RASGRP2RASGRP2 inherited bleeding disorder, platelet-typeRASGRP2-related platelet disorder