Surfactant metabolism dysfunction, pulmonary, 1

Preferred Label : Surfactant metabolism dysfunction, pulmonary, 1;

Symbol : SMDP1;

CISMeF acronym : SMDP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pulmonary alveolar proteinosis, congenital, 1; Interstitial lung disease due to surfactant protein b deficiency; Interstitial lung disease, nonspecific, due to surfactant protein b deficiency;

Description : Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005). The hereditary, often congenital, pulmonary surfactant metabolism dysfunction disorders are distinct from respiratory distress syndrome (RDS; 267450), which affects preterm infants and is associated with the pathologic finding of hyaline membrane disease. Acquired PAP (610910) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (138960). - Genetic Heterogeneity of Pulmonary Surfactant Metabolism Dysfunction See also SMDP2 (610913), caused by mutation in the SPTPC gene (178620) on 8p21; SMDP3 (610921), caused by mutation in the ABCA3 gene (601615) on 16p13; SMDP4 (300770), caused by mutation in the CSF2RA gene (306250) on Xp; and SMDP5 (614370), caused by mutation in the CSF2RB gene (138981) on 22q12.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pulmonary-associated surfactant protein B gene (SFTPB, 178640.0001);

Prefixed ID : #265120;

Details

Origin ID

265120;

UMLS CUI

C1968602;

Automatic exact mappings (from CISMeF team)
- Neonatal acute respiratory distress due to SP-B deficiency [ORDO Disease]
- SFTPB wt Allele [NCIt concept]
Broader ORDO disease(s)
- Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies [ORDO Disease]
Currated CISMeF NLP mapping
- Pulmonary Surfactant Metabolism Dysfunction-1 [NCIt concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH Supplementary Concept]
DO Cross reference
- pulmonary alveolar proteinosis [DO Concept]
Genes related to phenotype
- Surfactant, pulmonary-associated protein b [OMIM gene]
HPO term(s)
- Absent bronchoalveolar dimeric surfactant-protein B [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clubbing [HPO term]
- Cyanosis [HPO term]
- Death in infancy [HPO term]
- Desquamative interstitial pneumonitis [HPO term]
- Dyspnea [HPO term]
- Failure to thrive [HPO term]
- Ground-glass opacification [HPO term]
- Interlobular septal thickening [HPO term]
- Interstitial fibrosis [HPO term]
- Intraalveolar phospholipid accumulation [HPO term]
- Misalignment of the pulmonary veins [HPO term]
- Neonatal death [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Respiratory failure [HPO term]
- Tachypnea [HPO term]
ORDO concept(s)
- Neonatal acute respiratory distress due to SP-B deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pulmonary Surfactant Metabolism Dysfunction-1 [NCIt concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH Supplementary Concept]
- surfactant metabolism dysfunction, pulmonary, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Hereditary pulmonary alveolar proteinosis [ORDO Disease]

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