Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named “trimorphic syndrome” (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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0001409 Portal hypertension Very frequent (99-80%)
HP:0001433 Hepatosplenomegaly Very frequent (99-80%)
HP:0002206 Pulmonary fibrosis Very frequent (99-80%)
HP:0005528 Bone marrow hypocellularity Very frequent (99-80%)
HP:0011954 Nodular regenerative hyperplasia of liver Very frequent (99-80%)
HP:0001873 Thrombocytopenia Frequent (79-30%)
HP:0002094 Dyspnea Frequent (79-30%)
HP:0002111 Restrictive deficit on pulmonary function testing Frequent (79-30%)
HP:0002910 Elevated hepatic transaminase Frequent (79-30%)
HP:0003281 Increased serum ferritin Frequent (79-30%)
HP:0006707 Abnormality of the hepatic vasculature Frequent (79-30%)
HP:0012735 Cough Frequent (79-30%)
HP:0030830 Crackles Frequent (79-30%)
HP:0001685 Myocardial fibrosis Occasional (29-5%)
HP:0002103 Abnormality of the pleura Occasional (29-5%)
HP:0030829 Abnormal breath sound Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID