SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5

General Information (adopted from Orphanet):

Synonyms, Signs: CSF2RB DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS 5
PAP DUE TO CSF2RB DEFICIENCY
SMDP5
Number of Symptoms 9
OrphanetNr:
OMIM Id: 614370
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002093) Respiratory insufficiency 410 / 7739
2
(HPO:0002094) Dyspnea 132 / 7739
3
(HPO:0006517) Alveolar proteinosis 7 / 7739
4
(OMIM) Alveoli filled with granular or foamy surfactant protein exudate 4 / 7739
5
(OMIM) Granular, hazy, ground-glass interstitial opacifications seen on radiograph 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Impaired response to GM-CSF 1 / 7739
8
(OMIM) Increased serum GM-CSF 1 / 7739
9
(MedDRA:10001881) Alveolar proteinosis 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This ...
Clinical Description OMIM Dirksen et al. (1997) described an expression defect of the CSF2RB gene in 4 of 7 pediatric patients with pulmonary alveolar proteinosis. Three patients were diagnosed as neonates, and 1 at age 1 month, after presenting with severe ...
Molecular genetics OMIM In a Japanese woman with late-onset hereditary pulmonary alveolar proteinosis, Tanaka et al. (2011) identified a homozygous truncating mutation in the CSF2RB gene (138981.0001). Each unaffected parent was heterozygous for the mutation. Tanaka et al. (2011) speculated that ...