SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3

General Information (adopted from Orphanet):

Synonyms, Signs: PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 3
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY
SMDP3
Number of Symptoms 21
OrphanetNr:
OMIM Id: 610921
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: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0005942) Desquamative interstitial pneumonitis 3 / 7739
3
 (HPO:0002104) Apnea 106 / 7739
4
 (HPO:0006517) Alveolar proteinosis 7 / 7739
5
 (HPO:0002878) Respiratory failure 57 / 7739
6
 (HPO:0002094) Dyspnea 132 / 7739
7
 (HPO:0002098) Respiratory distress 75 / 7739
8
 (HPO:0002789) Tachypnea 48 / 7739
9
 (HPO:0001425) Heterogeneous 132 / 7739
10
 (OMIM) Alveoli filled with granular or foamy surfactant protein exudate 4 / 7739
11
 (OMIM) Surfactant deficiency 1 / 7739
12
 (MedDRA:10001881) Alveolar proteinosis 5 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (OMIM) Respiratory distress, severe, neonatal 2 / 7739
15
 (OMIM) Interstitial thickening 3 / 7739
16
 (HPO:0003577) Congenital onset 133 / 7739
17
 (OMIM) Alveoli contain desquamated type II pneumocytes and macrophages 3 / 7739
18
 (OMIM) Type II pneumocytes contain abnormal lamellar bodies 3 / 7739
19
 (OMIM) Type II pneumocyte hyperplasia 4 / 7739
20
 (OMIM) Radiograph shows granular, hazy, ground-glass interstitial opacifications 2 / 7739
21
 (MedDRA:10028975) Neonatal respiratory failure 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).
Clinical Description OMIM Shulenin et al. (2004) evaluated a total of 337 full-term infants with severe neonatal respiratory distress. Most patients were found to have identifiable causes, including malformation, infection, SMDP1 (47 infants, 14%), or SMDP2 (610913) (6 infants). Of 16 ...
Molecular genetics OMIM In 16 racially and ethnically diverse infants with severe neonatal surfactant metabolism dysfunction, Shulenin et al. (2004) identified 12 different homozygous or compound heterozygous mutations in the ABCA3 gene (see e.g., 601615.0001-601615.0006).

In a male infant ...