" /> Surfactant metabolism dysfunction, pulmonary, 5 - CISMeF





Preferred Label : Surfactant metabolism dysfunction, pulmonary, 5;

Symbol : SMDP5;

CISMeF acronym : SMDP5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Csf2rb deficiency; Pap due to csf2rb deficiency; Pulmonary alveolar proteinosis 5;

Description : Pulmonary surfactant metabolism dysfunction-5 (SMDP5) is an autosomal recessive lung disorder manifest clinically and pathologically as pulmonary alveolar proteinosis. Pulmonary alveolar proteinosis is a rare lung disease characterized by the ineffective clearance of surfactant by alveolar macrophages. This results in the accumulation of surfactant-derived lipoproteinaceous material in the alveoli and terminal bronchioles, causing respiratory failure (summary by Greenhill and Kotton, 2009). 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 granulocyte-macrophage colony-stimulating factor receptor, beta (CSF2RB, 138981.0001);

Laboratory abnormalities : Increased serum GM-CSF; Impaired response to GM-CSF;

Prefixed ID : #614370;

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05/07/2025


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