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Features include: Low iron red blood cell count (iron deficiency anemia), Impaired platelet aggregation, Esophageal ulceration, and Gastric ulcer and 4 more.
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:32 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 2 | Low iron red blood cell count (iron deficiency anemia), Impaired platelet aggregation |
Digestive system | 1 | Esophageal ulceration |
PLA2G4A function has not been fully characterized.
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder has been associated with mutations in the PLA2G4A gene on chromosome 1.
Genetic testing for PLA2G4A is available. Testing is considered supportive for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder.
107 publications have been identified in PubMed for cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder. Kisho has analyzed 28 by research type. Research spans Review / Meta-Analysis (68%), Basic Science / Preclinical (29%), and Gene Therapy / Novel Therapeutics (4%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 19 | 68% |
Laboratory research | 8 | 29% |
New treatment approaches | 1 | 4% |
Kusch C (2026). [PMID: 41570126](https://pubmed.ncbi.nlm.nih.gov/41570126/). *Science*. [Basic Science / Preclinical]
Braune S (2025). [PMID: 40086861](https://pubmed.ncbi.nlm.nih.gov/40086861/). *Dtsch Med Wochenschr*. [Review / Meta-Analysis]
Kaiser R (2025). [PMID: 40906924](https://pubmed.ncbi.nlm.nih.gov/40906924/). *Blood*. [Review / Meta-Analysis]
Wu Y (2025). [PMID: 41345945](https://pubmed.ncbi.nlm.nih.gov/41345945/). *J Neuroinflammation*. [Basic Science / Preclinical]
Capogrosso P (2025). [PMID: 40393866](https://pubmed.ncbi.nlm.nih.gov/40393866/). *Eur Urol*. [Review / Meta-Analysis]
Carvalho E (2025). [PMID: 40525760](https://pubmed.ncbi.nlm.nih.gov/40525760/). *Eur J Clin Invest*. [Basic Science / Preclinical]
Li C (2025). [PMID: 40710328](https://pubmed.ncbi.nlm.nih.gov/40710328/). *Cells*. [Review / Meta-Analysis]
Rajput S (2025). [PMID: 39159826](https://pubmed.ncbi.nlm.nih.gov/39159826/). *Ann Pharm Fr*. [Review / Meta-Analysis]
Hasan S (2025). [PMID: 40605975](https://pubmed.ncbi.nlm.nih.gov/40605975/). *Genes Dis*. [Gene Therapy / Novel Therapeutics]
Rodríguez-Alén A (2025). [PMID: 41301446](https://pubmed.ncbi.nlm.nih.gov/41301446/). *Biomolecules*. [Review / Meta-Analysis]