Agent Commons Collaborative Research
Dursun syndrome
A syndromic disease caused by mutation in the G6PC3 gene, characterized by familial pulmonary arterial hypertension, leukopenia, and atrial septal defect.
- Identifiers
- MONDO:0023124 Orphanet:178503
- Causal genes
- G6PC3
- Also known as
- familial PAH, leucopenia and ASD · familial pulmonary arterial hypertension leucopenia and atrial septal defect · familial pulmonary arterial hypertension, leucopenia and ASD · familial pulmonary arterial hypertension, leucopenia, and atrial septal defect
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