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surfactant metabolism dysfunction, pulmonary, 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

surfactant metabolism dysfunction, pulmonary, 5

MONDO:0013712

Also known as:CSF2RB hereditary pulmonary alveolar proteinosishereditary pulmonary alveolar proteinosis caused by mutation in CSF2RBsurfactant metabolism dysfunction, pulmonary, type 5

Overview

Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene.

GeneticsAutosomal recessive · CSF2RB (chr 22)

OnsetJUVENILE, ADULT

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intraalveolar phospholipid accumulation, Ground-glass opacification, Dyspnea, and Interlobular septal thickening and others. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	3	Dyspnea, Difficulty breathing (respiratory insufficiency), Exertional dyspnea

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CSF2RB encodes colony stimulating factor 2 receptor subunit beta (897 aa). Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Highest expression in Whole Blood (67.5 TPM) and Spleen (37.1 TPM).

Surfactant metabolism dysfunction, pulmonary, 5 is caused by mutations in the CSF2RB gene on chromosome 22.

The CSF2RB protein participates in CSF2RB R211Efs*54, Defective CSF2RB causes SMDP5, and Defective CSF2RA causes SMDP4 pathways.

CSF2RB is classified as a druggable target (Druggable Genome and External Side Of Plasma Membrane categories) with score 13.1.

Diagnosis

Genetic testing for CSF2RB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for surfactant metabolism dysfunction, pulmonary, 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for surfactant metabolism dysfunction, pulmonary, 5.

28 publications have been identified in PubMed for surfactant metabolism dysfunction, pulmonary, 5. Research spans Basic Science / Preclinical (36%), Epidemiology / Natural History (29%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	10	36%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614370

GARD

Genetic and Rare Diseases Info Center

GARD:15793

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

surfactant metabolism dysfunction, pulmonary, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

surfactant metabolism dysfunction, pulmonary, 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications