Glanzmann thrombasthenia
MONDO:0100326Mondo
Findings
No curated finding names Glanzmann thrombasthenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
14 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.
- Prolonged bleeding timeHPOHP:0003010
- Very frequent (80% to 99% of cases)
- Spontaneous, recurrent epistaxisHPOHP:0004406
- Very frequent (80% to 99% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- Gingival bleedingHPOHP:0000225
- Frequent (30% to 79% of cases)
- Prolonged bleeding after surgeryHPOHP:0004846
- Frequent (30% to 79% of cases)
- Prolonged bleeding following circumcisionHPOHP:0030137
- Frequent (30% to 79% of cases)
- EcchymosisHPOHP:0031364
- Occasional (5% to 29% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Occasional (5% to 29% of cases)
- Macroscopic hematuriaHPOHP:0012587
- Occasional (5% to 29% of cases)
- MenometrorrhagiaHPOHP:0400008
- Occasional (5% to 29% of cases)
- MenorrhagiaHPOHP:0000132
- Occasional (5% to 29% of cases)
- PurpuraHPOHP:0000979
- Occasional (5% to 29% of cases)
Reported absent (6)
- Impaired ADP-induced platelet aggregationHPOHP:0004866
- Impaired arachidonic acid-induced platelet aggregationHPOHP:0011870
- Impaired collagen-related peptide-induced platelet aggregationHPOHP:0031128
- Impaired epinephrine-induced platelet aggregationHPOHP:0008148
- Impaired thrombin-induced platelet aggregationHPOHP:0011872
- Impaired thromboxane A2 agonist-induced platelet aggregationHPOHP:0011894
Show the remaining 2
- Spontaneous hematomasHPOHP:0007420
- Occasional (5% to 29% of cases)
- Impaired ristocetin-induced platelet aggregationHPOHP:0011871
- Very rare (1% to 4% of cases)
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.
Where it sits
- Narrower terms (2)