Surfactant metabolism dysfunction, pulmonary, 3

Preferred Label : Surfactant metabolism dysfunction, pulmonary, 3;

Symbol : SMDP3;

CISMeF acronym : SMDP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Interstitial lung disease due to abca3 deficiency; Pulmonary alveolar proteinosis, congenital, 3;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (265120).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily A, member 3 gene (ABCA3, 601615.0001);

Prefixed ID : #610921;

Details

Origin ID

610921;

UMLS CUI

C1970456;

Automatic exact mappings (from CISMeF team)
- ABCA3 wt Allele [NCIt concept]
- Interstitial lung disease due to ABCA3 deficiency [ORDO Disease]
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 ATP-binding cassette subfamily A member 3 deficiency (disorder) [SNOMED CT concept]
- Pulmonary Surfactant Metabolism Dysfunction-3 [NCIt concept]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH concept]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH Supplementary Concept]
DO Cross reference
- pulmonary alveolar proteinosis [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 3 [OMIM gene]
HPO term(s)
- Absent bronchoalveolar surfactant-protein C [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchial wall thickening [HPO term]
- Clubbing [HPO term]
- Congenital onset [HPO term]
- Cough [HPO term]
- Crazy paving pattern [HPO term]
- Cyanosis [HPO term]
- Cystic pattern on pulmonary HRCT [HPO term]
- Death in infancy [HPO term]
- Desquamative interstitial pneumonitis [HPO term]
- Dyspnea [HPO term]
- Exertional dyspnea [HPO term]
- Failure to thrive [HPO term]
- Ground-glass opacification [HPO term]
- Honeycomb lung [HPO term]
- Hypoxemia [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Neonatal death [HPO term]
- Neonatal respiratory distress [HPO term]
- Nodular pattern on pulmonary HRCT [HPO term]
- Nonspecific interstitial pneumonia [HPO term]
- Paraseptal emphysema [HPO term]
- Pulmonary fibrosis [HPO term]
- Respiratory distress [HPO term]
- Respiratory failure [HPO term]
- Reticular pattern on pulmonary HRCT [HPO term]
- Tachypnea [HPO term]
- Usual interstitial pneumonia [HPO term]
ORDO concept(s)
- Interstitial lung disease due to ABCA3 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) [SNOMED CT concept]
- Pulmonary Surfactant Metabolism Dysfunction-3 [NCIt concept]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 3 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary pulmonary alveolar proteinosis [ORDO Disease]

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