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Features include very common findings: Intraalveolar phospholipid accumulation, Ground-glass opacification, Tachypnea, and Neonatal respiratory distress and others; and common findings: High blood pressure in lung arteries (pulmonary arterial hypertension), Interlobular septal thickening, Misalignment of the pulmonary veins, and Apnea and others. 22 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lungs and breathing | 14 | Desquamative interstitial pneumonitis, Dyspnea, Absent bronchoalveolar dimeric surfactant-protein B |
Heart and blood vessels | 2 | High blood pressure in lung arteries (pulmonary arterial hypertension), Right ventricular hypertrophy |
Pregnancy and birth | 2 | Neonatal respiratory distress, Spontaneous neonatal pneumothorax |
Growth and development | 1 | Failure to thrive |
Age of onset: newborn period.
SFTPB function has not been fully characterized.
Surfactant metabolism dysfunction, pulmonary, 1 is caused by mutations in the SFTPB gene on chromosome 2.
Genetic testing for SFTPB is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 very common features, 6 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for surfactant metabolism dysfunction, pulmonary, 1.
4 publications have been identified in PubMed for surfactant metabolism dysfunction, pulmonary, 1. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).
Louvrier C (2025). [PMID: 40023045](https://pubmed.ncbi.nlm.nih.gov/40023045/). *EBioMedicine*. [Case Report / Case Series]
McCray PB (2025). [PMID: 40771632](https://pubmed.ncbi.nlm.nih.gov/40771632/). *Transactions of the American Clinical and Climatological Association*. [Review / Meta-Analysis]
Drobnakova S (2024). [PMID: 38737517](https://pubmed.ncbi.nlm.nih.gov/38737517/). *Respiratory medicine case reports*. [Case Report / Case Series]
Ognean ML (2024). [PMID: 39457702](https://pubmed.ncbi.nlm.nih.gov/39457702/). *Biomedicines*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 3:56 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center