paroxysmal nocturnal hemoglobinuria
Findings
No curated finding names paroxysmal nocturnal hemoglobinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.
Definition from the Mondo Disease Ontology (MONDO:0100244), read 2026-09-29. CC BY 4.0.
Features
44 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 erythrocyte enzyme concentration or activityHPOHP:0030272
- Obligate (100% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- AstheniaHPOHP:0025406
- Very frequent (80% to 99% of cases)
- HemoglobinuriaHPOHP:0003641
- Very frequent (80% to 99% of cases)
- Hemolytic anemiaHPOHP:0001878
- Very frequent (80% to 99% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Frequent (30% to 79% of cases)
- Conjunctival icterusHPOHP:0032106
- Frequent (30% to 79% of cases)
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- Frequent (30% to 79% of cases)
- Decreased circulating iron concentrationHPOHP:0040303
- Frequent (30% to 79% of cases)
- Deep venous thrombosisHPOHP:0002625
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
Show the remaining 32
- Episodic abdominal painHPOHP:0002574
- Frequent (30% to 79% of cases)
- ErythromelalgiaHPOHP:0032147
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- HemosiderinuriaHPOHP:0012543
- Frequent (30% to 79% of cases)
- Increased blood urea nitrogenHPOHP:0003138
- Frequent (30% to 79% of cases)
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- Frequent (30% to 79% of cases)
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.
- PIGAHGNC:8957
- Supportive · Orphanet · Unknown · 2025
Where it sits
Other names
6 names
Resolves to: paroxysmal nocturnal hemoglobinuria
- Also called
- acquired paroxysmal nocturnal hemoglobinuriahereditary paroxysmal nocturnal hemoglobinuriainherited paroxysmal nocturnal hemoglobinuriaMarchiafava-Micheli diseaseparoxysmal hemoglobinuriaPNH