SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 1
INTERSTITIAL LUNG DISEASE, NONSPECIFIC, DUE TO SURFACTANT PROTEIN B DEFICIENCY
INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN B DEFICIENCY
SMDP1
Number of Symptoms 20
OrphanetNr:
OMIM Id: 265120
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001217) Clubbing 39 / 7739
2
(HPO:0001508) Failure to thrive 454 / 7739
3
(HPO:0000961) Cyanosis 60 / 7739
4
(HPO:0002092) Pulmonary hypertension 109 / 7739
5
(HPO:0002789) Tachypnea 48 / 7739
6
(HPO:0002104) Apnea 106 / 7739
7
(HPO:0002094) Dyspnea 132 / 7739
8
(OMIM) Radiograph shows granular, hazy, ground-glass interstitial opacifications 2 / 7739
9
(OMIM) Respiratory distress, severe, neonatal 2 / 7739
10
(MedDRA:10001881) Alveolar proteinosis 5 / 7739
11
(OMIM) Decreased or absent immunostaining for surfactant protein B 1 / 7739
12
(OMIM) Interstitial thickening 3 / 7739
13
(OMIM) Type II pneumocyte hyperplasia 4 / 7739
14
(OMIM) Alveoli filled with granular or foamy surfactant protein exudate 4 / 7739
15
(OMIM) Interstitial fibrosis 24 / 7739
16
(OMIM) Alveoli contain desquamated type II pneumocytes and macrophages 3 / 7739
17
(OMIM) Type II pneumocytes contain abnormal lamellar bodies 3 / 7739
18
(MedDRA:10028975) Neonatal respiratory failure 3 / 7739
19
(OMIM) Bronchopulmonary dysplasia may develop later 1 / 7739
20
(OMIM) Increased immunostaining for surfactant proteins A and pro-C 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis ...
Clinical Description OMIM Moulton et al. (1992) reported 2 pairs of sibs from 2 unrelated families with neonatal respiratory distress associated with pulmonary alveolar proteinosis beginning within hours of birth. All were full-term infants and 3 had mature lung profiles. Radiographic ...
Molecular genetics OMIM In 3 affected sibs with fatal neonatal respiratory failure and surfactant protein B deficiency, Nogee et al. (1994) identified a homozygous mutation in the SFTPB gene (121ins2; 178640.0001). Both unaffected parents and 2 of 3 healthy sibs were ...
Population genetics OMIM In a review of the disorder, Whitsett and Weaver (2002) stated that approximately 10% of full-term infants who presented with unexplained respiratory failure had mutations in the SFTPB gene.

The incidence of surfactant B deficiency has ...