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surfactant metabolism dysfunction, pulmonary, 2 (SMDP2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

surfactant metabolism dysfunction, pulmonary, 2

MONDO:0024465

Also known as:SMDP2desquamative interstitial pneumonitis due to surfactant Protein C deficiencyinterstitial lung disease due to surfactant Protein C deficiency

Overview

GeneticsAutosomal dominant · SFTPC (chr 8)

OnsetNEONATAL

ResearchLimited published research (3 articles)

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: Type II pneumocyte hyperplasia, Absent bronchoalveolar surfactant-protein C, Respiratory failure, and Recurrent pneumonia and others; and common findings: Intralobular septal thickening, Dyspnea, Cough, and Nonspecific interstitial pneumonia and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lungs and breathing	17	Bronchial wall thickening, Type II pneumocyte hyperplasia, Absent bronchoalveolar surfactant-protein C

Genetic Landscape

SFTPC function has not been fully characterized.

Surfactant metabolism dysfunction, pulmonary, 2 is associated with mutations in the SFTPC gene on chromosome 8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 10 always present features, 5 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, 2.

3 publications have been identified in PubMed for surfactant metabolism dysfunction, pulmonary, 2. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Sen C (2026). [PMID: 41676623](https://pubmed.ncbi.nlm.nih.gov/41676623/). *bioRxiv*. [Basic Science / Preclinical]
Yang T (2025). [PMID: 40890883](https://pubmed.ncbi.nlm.nih.gov/40890883/). *Ital J Pediatr*. [Case Report / Case Series]
Drobnakova S (2024). [PMID: 38737517](https://pubmed.ncbi.nlm.nih.gov/38737517/). *Respir Med Case Rep*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610913

Questions for Your Care Team

→Should I pursue genetic testing for SFTPC, and what would the results mean for my family?
→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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surfactant metabolism dysfunction, pulmonary, 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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