alveolar proteinosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates. (Human Phenotype Ontology, HP_0006517)
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5 genes associated with the alveolar proteinosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
CSF2RB colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
SFTPB surfactant protein B
SFTPC surfactant protein C
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7