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pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

MONDO:0016214

Overview

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.

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Portal hypertension, Hepatosplenomegaly, Lung scarring (pulmonary fibrosis), and Bone marrow hypocellularity and others; and common findings: Low platelet count (thrombocytopenia), Restrictive ventilatory defect, Dyspnea, and Elevated circulating hepatic transaminase concentration and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4

Prognosis

Phenotype severity distribution: 5 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome.

5 publications have been identified in PubMed for pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (40%), and Basic Science / Preclinical (20%).

Recent Publications

Wen R (2026). [PMID: 41496029](https://pubmed.ncbi.nlm.nih.gov/41496029/). *Medicine*. [Case Report / Case Series]
Akimova D (2026). [PMID: 40859110](https://pubmed.ncbi.nlm.nih.gov/40859110/). *Clinical genetics*. [Case Report / Case Series]
Rolles B (2024). [PMID: 39371255](https://pubmed.ncbi.nlm.nih.gov/39371255/). *Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie*. [Review / Meta-Analysis]
Neri Morales C (2024). [PMID: 38940945](https://pubmed.ncbi.nlm.nih.gov/38940945/). *Archives of dermatological research*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:210136

GARD

Genetic and Rare Diseases Info Center

GARD:20449

Questions for Your Care Team

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pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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