Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

MedGen UID:: 1842605
•Concept ID:: C5680383
•: Disease or Syndrome

Synonym:	Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

Orphanet:	ORPHA100049

Definition

A group of interstitial lung diseases (ILD) induced by genetic mutations disrupting surfactant function and gas exchange in the lung. The disorders caused by these mutations affect full-term infants and older children and exhibit considerable overlap in their clinical and histologic presentation. [from ORDO]

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

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Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Definition

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