Information on SMDP5
Basic details
Name: Surfactant metabolism dysfunction, pulmonary, 5 | Acronym: SMDP5
Alt. names:
Gene: CSF2RB | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2011
Last updated on: 2023-02-28 16:41:18 by
Description
The condition typically manifests with childhood-onset respiratory insufficiency (though adult-onset disease has also been reported) due to pulmonary alveolar proteinosis, and whole-lung lavage may be beneficial; It has been reported that diagnosis has important therapeutic implications, as BMT/HSCT can be effective. Refs. PMIDs: 9410898; 21075760
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Dyspnea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Exertional dyspnea |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Ground-glass opacification |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Interlobular septal thickening |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Pulmonary alveolar proteinosis |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Anti-granulocyte-macrophage colony stimulating factor antibody positivity |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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