pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Findings
No curated finding names pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality.
Definition from the Mondo Disease Ontology (MONDO:0016214), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Bone marrow hypocellularityHPOHP:0005528
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- Very frequent (80% to 99% of cases)
- Nodular regenerative hyperplasia of liverHPOHP:0011954
- Very frequent (80% to 99% of cases)
- Portal hypertensionHPOHP:0001409
- Very frequent (80% to 99% of cases)
- Pulmonary fibrosisHPOHP:0002206
- Very frequent (80% to 99% of cases)
- Abnormality of the hepatic vasculatureHPOHP:0006707
- Frequent (30% to 79% of cases)
Show the remaining 4
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
- Abnormal breath soundHPOHP:0030829
- Occasional (5% to 29% of cases)
- Abnormal pleura morphologyHPOHP:0002103
- Occasional (5% to 29% of cases)
- Myocardial fibrosisHPOHP:0001685
- Occasional (5% to 29% of cases)
Where it sits
- A kind of