pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
ORPHA: 210136
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome, sourced from HPO and Orphanet clinical annotations.
Portal hypertensionHepatosplenomegalyPulmonary fibrosisBone marrow hypocellularityNodular regenerative hyperplasia of liverThrombocytopeniaRestrictive ventilatory defectDyspneaElevated circulating hepatic transaminase concentrationIncreased circulating ferritin concentrationAbnormality of the hepatic vasculatureCoughCracklesMyocardial fibrosisAbnormal pleura morphologyAbnormal breath sound
Classification & Codes
Orphanet Code
ORPHA:210136pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
| Orphanet | ORPHA:210136 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO