Chronic respiratory distress with surfactant metabolism deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: INTERSTITIAL LUNG DISEASE DUE TO SURFACTANT PROTEIN C DEFICIENCY
PULMONARY ALVEOLAR PROTEINOSIS, CONGENITAL, 2
DESQUAMATIVE INTERSTITIAL PNEUMONITIS DUE TO SURFACTANT PROTEIN C DEFICIENCY
SMDP2
Number of Symptoms 27
OrphanetNr: 217566
OMIM Id: 610913
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic interstitial lung disease
 -Rare genetic disease
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0005576) Tubulointerstitial fibrosis 32 / 7739
2
(HPO:0001217) Clubbing 39 / 7739
3
(HPO:0001508) Failure to thrive 454 / 7739
4
(HPO:0000961) Cyanosis 60 / 7739
5
(HPO:0002205) Recurrent respiratory infections 254 / 7739
6
(HPO:0002789) Tachypnea 48 / 7739
7
(HPO:0002098) Respiratory distress 75 / 7739
8
(HPO:0002094) Dyspnea 132 / 7739
9
(HPO:0006517) Alveolar proteinosis 7 / 7739
10
(HPO:0006515) Interstitial pneumonitis 13 / 7739
11
(OMIM) Radiography shows hazy, ground-glass interstitial opacifications 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
(MedDRA:10001881) Alveolar proteinosis 5 / 7739
14
(OMIM) Alveoli filled with granular or foamy surfactant protein exudate 4 / 7739
15
(OMIM) Type II pneumocytes contain abnormal lamellar bodies 3 / 7739
16
(OMIM) Decreased or absent mature surfactant C protein 1 / 7739
17
(HPO:0001425) Heterogeneous 132 / 7739
18
(OMIM) Areas of fibrosis may develop with longer disease duration 1 / 7739
19
(OMIM) Intraalveolar accumulation of abnormal pro-SPC protein 1 / 7739
20
(OMIM) Interstitial fibrosis 24 / 7739
21
(OMIM) Usual interstitial pneumonitis 1 / 7739
22
(OMIM) Cellular nonspecific interstitial pneumonitis 2 / 7739
23
(HPO:0003829) Incomplete penetrance 85 / 7739
24
(OMIM) Poor weight gain in infancy 2 / 7739
25
(OMIM) Interstitial thickening 3 / 7739
26
(OMIM) Type II pneumocyte hyperplasia 4 / 7739
27
(OMIM) Alveoli contain desquamated type II pneumocytes and macrophages 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally ...
Clinical Description OMIM Nogee et al. (2001) reported a female infant who developed severe respiratory insufficiency at 6 weeks of age. She had cyanosis and tachypnea while breathing room air. Chest radiography showed hyperinflation with increased interstitial markings. Open-lung biopsy showed ...
Molecular genetics OMIM In a mother and infant with respiratory insufficiency and interstitial pneumonitis due to surfactant protein C deficiency, Nogee et al. (2001) identified a heterozygous mutation in the SFTPC gene (178620.0001).

In affected members of a large ...