Term ID: 6517
Name: Intraalveolar phospholipid accumulation
Synonym: Alveolar proteinosis; Detection of PAS-positive extracellular material in broncho-alveolar lavage; Pulmonary alveolar proteinosis
Definition: Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.
Comments:
Reference: HP:0006517
Genes and Diseases: Child Nodes: Sister Nodes: ..Abnormal lung lobation (HP:0002101) ..Abnormal pleura morphology (HP:0002103) ..Abnormal pulmonary interstitial morphology (HP:0006530) ..Abnormal pulmonary lymphatics (HP:0006529) ..Abnormal subpleural morphology (HP:0031630) ..Abnormality of the pulmonary vasculature (HP:0004930) ..Aplasia/Hypoplasia of the lungs (HP:0006703) ..Atelectasis (HP:0100750) ..Bronchogenic cyst (HP:0100730) ..Bronchopulmonary sequestration (HP:0010960) ..Chronic lung disease (HP:0006528) ..Emphysema (HP:0002097) ..Hemoptysis (HP:0002105) ..Hypersensitivity pneumonitis (HP:0006516) ..Intraalveolar nodular calcifications (HP:0006514) ..Lung abscess (HP:0025044) ..Multiple pulmonary cysts (HP:0005948) ..Neoplasm of the lung (HP:0100526) ..Pneumothorax (HP:0002107) ..Pulmonary edema (HP:0100598) ..Pulmonary fibrosis (HP:0002206) ..Pulmonary granulomatosis (HP:0030250) ..Pulmonary hemorrhage (HP:0040223) ..Pulmonary infiltrates (HP:0002113) ..Pulmonary opacity (HP:0031457) ..Pulmonary pneumatocele (HP:0025419) ..Respiratory tract infection (HP:0011947) ..Unilateral primary pulmonary dysgenesis (HP:0006549) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 ABCA3 CL E G H 21 33 OMIM:610921 Surfactant metabolism dysfunction, pulmonary, 3 147 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 CSF2RA CL E G H 1438 2435 OMIM:300770 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 15 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 CSF2RB CL E G H 1439 2436 OMIM:614370 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 17 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 HLA-DRB1 CL E G H 3123 4948 ORPHA:747 Autoimmune pulmonary alveolar proteinosis HP:0040281 - Very frequent 2 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 MARS1 CL E G H 4141 6898 OMIM:615486 Interstitial lung and liver disease . HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 OAS1 CL E G H 4938 8086 OMIM:618042 Pulmonary alveolar proteinosis with hypogammaglobulinemia . 2 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 SFTPB CL E G H 6439 10801 ORPHA:217563 Neonatal acute respiratory distress due to SP-B deficiency HP:0040281 - Very frequent 51 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 SFTPB CL E G H 6439 10801 OMIM:265120 Surfactant metabolism dysfunction, pulmonary, 1 51 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 SFTPC CL E G H 6440 10802 OMIM:610913 Surfactant metabolism dysfunction, pulmonary, 2 . 33 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 SLC7A7 CL E G H 9056 11065 ORPHA:470 Lysinuric protein intolerance HP:0040282 - Frequent 104 HP:0006517 HP:0006517 Intraalveolar phospholipid accumulation 0 SLC7A7 CL E G H 9056 11065 OMIM:222700 Lysinuric protein intolerance . 104
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
