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
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ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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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:
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(HPO:0005576) | Tubulointerstitial fibrosis | 32 / 7739 | ||||
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(HPO:0001217) | Clubbing | 39 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0002789) | Tachypnea | 48 / 7739 | ||||
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(HPO:0002098) | Respiratory distress | 75 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(HPO:0006517) | Alveolar proteinosis | 7 / 7739 | ||||
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(HPO:0006515) | Interstitial pneumonitis | 13 / 7739 | ||||
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(OMIM) | Radiography shows hazy, ground-glass interstitial opacifications | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(MedDRA:10001881) | Alveolar proteinosis | 5 / 7739 | ||||
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(OMIM) | Alveoli filled with granular or foamy surfactant protein exudate | 4 / 7739 | ||||
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(OMIM) | Type II pneumocytes contain abnormal lamellar bodies | 3 / 7739 | ||||
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(OMIM) | Decreased or absent mature surfactant C protein | 1 / 7739 | ||||
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(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
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(OMIM) | Areas of fibrosis may develop with longer disease duration | 1 / 7739 | ||||
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(OMIM) | Intraalveolar accumulation of abnormal pro-SPC protein | 1 / 7739 | ||||
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(OMIM) | Interstitial fibrosis | 24 / 7739 | ||||
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(OMIM) | Usual interstitial pneumonitis | 1 / 7739 | ||||
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(OMIM) | Cellular nonspecific interstitial pneumonitis | 2 / 7739 | ||||
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(HPO:0003829) | Incomplete penetrance | 85 / 7739 | ||||
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(OMIM) | Poor weight gain in infancy | 2 / 7739 | ||||
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(OMIM) | Interstitial thickening | 3 / 7739 | ||||
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(OMIM) | Type II pneumocyte hyperplasia | 4 / 7739 | ||||
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(OMIM) | Alveoli contain desquamated type II pneumocytes and macrophages | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |