surfactant metabolism dysfunction, pulmonary, 5
Findings
No curated finding names surfactant metabolism dysfunction, pulmonary, 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.
Definition from the Mondo Disease Ontology (MONDO:0013712), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
7 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.
- DyspneaHPOHP:0002094
- 1 of 1 reported patient · Juvenile onset
- Exertional dyspneaHPOHP:0002875
- 1 of 1 reported patient · Adult onset
- Ground-glass opacificationHPOHP:0025179
- 1 of 1 reported patient · Adult onset
- 1 of 1 reported patient · Juvenile onset
- Interlobular septal thickeningHPOHP:0030879
- 1 of 1 reported patient · Juvenile onset
- Intraalveolar phospholipid accumulationHPOHP:0006517
- 1 of 1 reported patient · Adult onset
- 1 of 1 reported patient · Juvenile onset
- Anti-granulocyte-macrophage colony stimulating factor antibody positivityHPOHP:0020050
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.
- CSF2RBHGNC:2436
- Definitive · ClinGen · Autosomal recessive · 2024
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
3 names
Resolves to: surfactant metabolism dysfunction, pulmonary, 5
- Also called
- CSF2RB hereditary pulmonary alveolar proteinosishereditary pulmonary alveolar proteinosis caused by mutation in CSF2RBsurfactant metabolism dysfunction, pulmonary, type 5