paroxysmal nocturnal hemoglobinuria 2
MONDO:0014166Mondo
Findings
No curated finding names paroxysmal nocturnal hemoglobinuria 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.
Definition from the Mondo Disease Ontology (MONDO:0014166), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by somatic mosaicism
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
8 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Hemolytic anemiaHPOHP:0001878
Where it sits
- A kind of
Other names
4 names
Resolves to: paroxysmal nocturnal hemoglobinuria 2
- Also called
- paroxysmal nocturnal hemoglobinuria 2, autosomal dominant, somatic mutationparoxysmal nocturnal hemoglobinuria caused by mutation in PIGTparoxysmal nocturnal hemoglobinuria type 2PIGT paroxysmal nocturnal hemoglobinuria