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Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene.
Features include always present findings: Diarrhea, Arthralgia, Paroxysmal nocturnal hemoglobinuria, and Red blood cell destruction (hemolytic anemia) and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Diarrhea, Abdominal pain |
PIGT function has not been fully characterized.
Paroxysmal nocturnal hemoglobinuria 2 is associated with mutations in the PIGT gene on chromosome 20.
Genetic testing for PIGT is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for paroxysmal nocturnal hemoglobinuria 2 has been reported in the published literature.
Phenotype severity distribution: 8 always present features.
No clinical trials have been registered for paroxysmal nocturnal hemoglobinuria 2.
143 publications have been identified in PubMed for paroxysmal nocturnal hemoglobinuria 2. Research spans Review / Meta-Analysis (25%), Clinical Trial Publication (24%), and Case Report / Case Series (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 36 | 25% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:34 PM UTC
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Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
2 |
Paroxysmal nocturnal hemoglobinuria, Red blood cell destruction (hemolytic anemia) |
Brain and nerves | 2 | Headache, Fatigue |
Bones and joints | 1 | Arthralgia |
Lungs and breathing | 1 | Dyspnea |
Clinical study results
34 |
24% |
Patient case studies | 29 | 20% |
Disease patterns and progression | 25 | 17% |
Laboratory research | 8 | 6% |
Testing and diagnosis research | 4 | 3% |
New treatment approaches | 4 | 3% |
Other research | 3 | 2% |
Schimmer RR (2026). [PMID: 41490322](https://pubmed.ncbi.nlm.nih.gov/41490322/). *Blood*. [Basic Science / Preclinical]
Vallejo C (2026). [PMID: 42275288](https://pubmed.ncbi.nlm.nih.gov/42275288/). *Hematology*. [Epidemiology / Natural History]
Zhuang QL (2026). [PMID: 41839633](https://pubmed.ncbi.nlm.nih.gov/41839633/). *Zhonghua Xue Ye Xue Za Zhi*. [Clinical Trial Publication]
Jiang L (2026). [PMID: 42180722](https://pubmed.ncbi.nlm.nih.gov/42180722/). *Front Med (Lausanne)*. [Case Report / Case Series]
Ikezoe T (2026). [PMID: 42253628](https://pubmed.ncbi.nlm.nih.gov/42253628/). *EJHaem*. [Clinical Trial Publication]
Patel PS (2026). [PMID: 41818093](https://pubmed.ncbi.nlm.nih.gov/41818093/). *J Assoc Physicians India*. [Clinical Trial Publication]
Gandhi S (2026). [PMID: 42279078](https://pubmed.ncbi.nlm.nih.gov/42279078/). *J Clin Med*. [Review / Meta-Analysis]
Liu H (2026). [PMID: 42057434](https://pubmed.ncbi.nlm.nih.gov/42057434/). *J Clin Lab Anal*. [Basic Science / Preclinical]
Orland M (2026). [PMID: 41657019](https://pubmed.ncbi.nlm.nih.gov/41657019/). *Hematology*. [Case Report / Case Series]
Zhang T (2026). [PMID: 42215427](https://pubmed.ncbi.nlm.nih.gov/42215427/). *Expert Rev Clin Pharmacol*. [Review / Meta-Analysis]
AI-curated news mentioning paroxysmal nocturnal hemoglobinuria 2
Updated Aug 31, 2026
A new expert consensus outlines an algorithmic approach for diagnosing and monitoring paroxysmal nocturnal hemoglobinuria (PNH), reflecting advancements in treatment options. This guidance aims to enhance clinical decision-making in managing PNH.
A recent observational study highlights the impact of anemia on patient-reported outcomes in individuals with paroxysmal nocturnal hemoglobinuria. The findings underscore the need for improved management strategies to address anemia in this patient population.
Advocacy for global access to complement inhibitor therapy for paroxysmal nocturnal hemoglobinuria is emphasized. The call highlights the need for equitable treatment options for patients worldwide.