surfactant metabolism dysfunction, pulmonary, 2
MONDO:0024465Mondo
Findings
No curated finding names surfactant metabolism dysfunction, pulmonary, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
26 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.
- Absent bronchoalveolar surfactant-protein CHPOHP:0032980
- 2 of 2 reported patients
- CyanosisHPOHP:0000961
- 1 of 1 reported patient
- Cystic pattern on pulmonary HRCTHPOHP:0025394
- 6 of 6 reported patients
- Ground-glass opacificationHPOHP:0025179
- 6 of 6 reported patients
- HypoxemiaHPOHP:0012418
- 17 of 17 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 17 of 17 reported patients
- Respiratory failureHPOHP:0002878
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 1 of 1 reported patient
- TachypneaHPOHP:0002789
- 1 of 1 reported patient
- Type II pneumocyte hyperplasiaHPOHP:0033328
- 1 of 1 reported patient
- Nonspecific interstitial pneumoniaHPOHP:0033584
- 8 of 11 reported patients
- DyspneaHPOHP:0002094
- 9 of 14 reported patients
Show the remaining 14
- CoughHPOHP:0012735
- 8 of 14 reported patients
- ClubbingHPOHP:0001217
- 5 of 14 reported patients
- Intralobular septal thickeningHPOHP:0033638
- 2 of 6 reported patients
- Desquamative interstitial pneumonitisHPOHP:0005942
- 3 of 11 reported patients
- Spontaneous pneumothoraxHPOHP:0002108
- 3 of 17 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 17 reported patients
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.
- SFTPCHGNC:10802
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
4 names
Resolves to: surfactant metabolism dysfunction, pulmonary, 2
- Also called
- desquamative interstitial pneumonitis due to surfactant Protein C deficiencyInterstitial Lung Disease Due To Surfactant Protein C Deficiencypulmonary alveolar proteinosis, congenital, 2SMDP2