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 entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
1048 CEACAM5 CEA cell adhesion molecule 5
1056 CEL carboxyl ester lipase
1116 CHI3L1 chitinase 3 like 1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2026 ENO2 enolase 2
6440 SFTPC surfactant protein C
6441 SFTPD surfactant protein D
6646 SOAT1 sterol O-acyltransferase 1
10998 SLC27A5 solute carrier family 27 member 5
83666 PARP9 poly(ADP-ribose) polymerase family member 9
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0002094 Dyspnea
HP:0006515 Interstitial pneumonitis
HP:0001263 Global developmental delay
HP:0012735 Cough
HP:0002206 Pulmonary fibrosis
HP:0000961 Cyanosis
HP:0002878 Respiratory failure
HP:0002092 Pulmonary arterial hypertension
HP:0006532 Recurrent pneumonia
HP:0002108 Spontaneous pneumothorax
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