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surfactant metabolism dysfunction, pulmonary, 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

surfactant metabolism dysfunction, pulmonary, 4

MONDO:0010424

Also known as:surfactant metabolism dysfunction, pulmonary, type 4Csf2Ra deficiencyPap due to Csf2Ra deficiency

Overview

GeneticsX-linked · CSF2RA (chr X)

OnsetJUVENILE

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: Failure to thrive, Ground-glass opacification, and Decreased DLCO; and common findings: Reduced forced vital capacity and Reduced forced expiratory volume in one second. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Failure to thrive

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.

CSF2RA encodes colony stimulating factor 2 receptor subunit alpha (400 aa). Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells

Surfactant metabolism dysfunction, pulmonary, 4 is caused by mutations in the CSF2RA gene on chromosome X.

The CSF2RA protein participates in CSF2RA G174R:CSF2RB, CSF2RA:CSF2RB mutants, and Defective CSF2RA causes SMDP4 pathways.

CSF2RA is classified as a druggable target (Druggable Genome and External Side Of Plasma Membrane categories) with score 11.6.

Diagnosis

Genetic testing for CSF2RA is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common 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, 4.

12 publications have been identified in PubMed for surfactant metabolism dysfunction, pulmonary, 4. Research spans Basic Science / Preclinical (58%), Review / Meta-Analysis (17%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Laboratory research	7	58%

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:300770

GARD

Genetic and Rare Diseases Info Center

GARD:15263

Questions for Your Care Team

→Should female family members consider carrier screening for CSF2RA?
→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, 4

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, 4

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