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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- Disease Ontology
- DOID:12120
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P06731 | Carcinoembryonic antigen-related cell adhesion molecule 5 | |
| P09104 | Gamma-enolase | |
| P19835 | Bile salt-activated lipase | |
| P35247 | Pulmonary surfactant-associated protein D | |
| P35610 | Sterol O-acyltransferase 1 | |
| P36222 | Chitinase-3-like protein 1 | |
| Q8IWL2 | Pulmonary surfactant-associated protein A1 |
- The Human Phenotype Ontology
| 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 |
