Surfactant metabolism dysfunction, pulmonary, 2

Preferred Label : Surfactant metabolism dysfunction, pulmonary, 2;

Symbol : SMDP2;

CISMeF acronym : SMDP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonary alveolar proteinosis, congenital, 2; Interstitial lung disease due to surfactant protein C deficiency; Desquamative interstitial pneumonitis due to surfactant protein C deficiency;

Description : 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 defective SPC protein (Thomas et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the surfactant pulmonary-associated protein C gene (SFTPC, 178620.0001);

Prefixed ID : #610913;

Details

Origin ID

610913;

UMLS CUI

C1970470;

Automatic exact mappings (from CISMeF team)
- Chronic respiratory distress with surfactant metabolism deficiency [ORDO Disease]
- SFTPC wt Allele [NCIt concept]
- surfactant protein C [ORDO Gene]
- surfactant protein C [HGNC gene]
Broader ORDO disease(s)
- Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [ORDO Disease]
Currated CISMeF NLP mapping
- Interstitial lung disease due to SP-C deficiency [ORDO Disease]
- Interstitial lung disease due to surfactant protein C deficiency (disorder) [SNOMED CT concept]
- Surfactant Protein C Deficiency [NCIt concept]
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH concept]
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH Supplementary Concept]
DO Cross reference
- pulmonary alveolar proteinosis [DO Concept]
Genes related to phenotype
- Surfactant, pulmonary-associated protein C [OMIM gene]
HPO term(s)
- Absent bronchoalveolar surfactant-protein C [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bronchial wall thickening [HPO term]
- Bronchiectasis [HPO term]
- Clubbing [HPO term]
- Cough [HPO term]
- Cyanosis [HPO term]
- Cystic pattern on pulmonary HRCT [HPO term]
- Decreased DLCO [HPO term]
- Desquamative interstitial pneumonitis [HPO term]
- Dyspnea [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Ground-glass opacification [HPO term]
- Hypoxemia [HPO term]
- Interstitial fibrosis [HPO term]
- Interstitial pneumonitis [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Intralobular septal thickening [HPO term]
- Nonspecific interstitial pneumonia [HPO term]
- Poor weight gain [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary fibrosis [HPO term]
- Recurrent pneumonia [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory distress [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Spontaneous pneumothorax [HPO term]
- Tachypnea [HPO term]
- Type II pneumocyte hyperplasia [HPO term]
ORDO concept(s)
- Chronic respiratory distress with surfactant metabolism deficiency [ORDO Disease]
- Interstitial lung disease due to SP-C deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interstitial lung disease due to surfactant protein C deficiency (disorder) [SNOMED CT concept]
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 2 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary pulmonary alveolar proteinosis [ORDO Disease]

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