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MIRAGE
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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 21 | ABCA3 | ATP binding cassette subfamily A member 3 | |
| 1437 | CSF2 | colony stimulating factor 2 | |
| 1438 | CSF2RA | colony stimulating factor 2 receptor subunit alpha | |
| 1439 | CSF2RB | colony stimulating factor 2 receptor subunit beta | |
| 6439 | SFTPB | surfactant protein B | |
| 6440 | SFTPC | surfactant protein C |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12981 | Csf2 | colony stimulating factor 2 (granulocyte-macrophage) | |
| 12982 | Csf2ra | colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) | |
| 12983 | Csf2rb | colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) | |
| 27410 | Abca3 | ATP-binding cassette, sub-family A member 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| B2RWT6 | Colony stimulating factor 2 receptor, alpha, low-affinity (Granulocyte-macrophage) | |
| P01587 | Granulocyte-macrophage colony-stimulating factor | |
| P26955 | Cytokine receptor common subunit beta | |
| Q3TN91 | ABC transporter domain-containing protein (Fragment) |
- 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 |
