pulmonary alveolar proteinosis

Summary
Definition
A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
Super Class
lung disease
External Links
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
653509 SFTPA1 surfactant protein A1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 20 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0002789 Tachypnea
HP:0001508 Failure to thrive
HP:0006517 Intraalveolar phospholipid accumulation
HP:0002098 Respiratory distress
HP:0012418 Hypoxemia
HP:0002093 Respiratory insufficiency
HP:0005942 Desquamative interstitial pneumonitis
HP:0001217 Clubbing
HP:0002110 Bronchiectasis
Displaying 1 entry
Gene ID Gene Symbol Description
6440 SFTPC surfactant protein C

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024