surfactant metabolism dysfunction, pulmonary, 1
MONDO:0009929Mondo
Findings
No curated finding names surfactant metabolism dysfunction, pulmonary, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset · Neonatal death
HPO, annotations 2026-09-02
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.
- Intraalveolar phospholipid accumulationHPOHP:0006517
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal pulmonary interstitial morphologyHPOHP:0006530
- Very frequent (80% to 99% of cases)
- Ground-glass opacificationHPOHP:0025179
- 12 of 15 reported patients
- Neonatal respiratory distressHPOHP:0002643
- Neonatal onset
- Very frequent (80% to 99% of cases)
- TachypneaHPOHP:0002789
- Very frequent (80% to 99% of cases)
- Interlobular septal thickeningHPOHP:0030879
- 2 of 3 reported patients
- ApneaHPOHP:0002104
- 3 of 5 reported patients · Neonatal onset
- Pulmonary arterial hypertensionHPOHP:0002092
- Frequent (30% to 79% of cases)
- Pulmonary infiltratesHPOHP:0002113
- Frequent (30% to 79% of cases)
- Pulmonary opacityHPOHP:0031457
- Frequent (30% to 79% of cases)
- Chronic lung diseaseHPOHP:0006528
- Occasional (5% to 29% of cases)
- Interstitial pneumonitisHPOHP:0006515
- Occasional (5% to 29% of cases)
Show the remaining 4
- Right ventricular hypertrophyHPOHP:0001667
- Occasional (5% to 29% of cases)
- Spontaneous neonatal pneumothoraxHPOHP:0004876
- Occasional (5% to 29% of cases)
- Misalignment of the pulmonary veinsHPOHP:0033186
- 1 of 3 reported patients
- Absent bronchoalveolar dimeric surfactant-protein BHPOHP:0032981
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SFTPBHGNC:10801
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: surfactant metabolism dysfunction, pulmonary, 1
- Also called
- interstitial lung disease due to SP-B dysfunctionInterstitial Lung Disease Due To Surfactant Protein B Deficiencyneonatal acute respiratory distress due to SP-B deficiencyneonatal acute respiratory distress due to surfactant protein B deficiencypulmonary alveolar proteinosis, congenital, 1SMDP1surfactant metabolism dysfunction, pulmonary, type 1