Idiopathic pulmonary alveolar proteinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PULMONARY ALVEOLAR LIPOPROTEINOSIS, ACQUIRED PAP, ACQUIRED PULMONARY ALVEOLAR PROTEINOSIS, AUTOIMMUNE Autoimmune pulmonary alveolar proteinosis Idiopathic PAP Autoimmune PAP |
| Number of Symptoms | 30 |
| OrphanetNr: | 747 |
| OMIM Id: |
610910
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| ICD-10: |
J84.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary interstitial lung disease specific to adulthood
-Rare respiratory disease |
Symptom Information:
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(HPO:0100749) | Chest pain | 92 / 7739 | ||||
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(HPO:0100760) | Clubbing of toes | 24 / 7739 | ||||
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(HPO:0001217) | Clubbing | 39 / 7739 | ||||
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(HPO:0000961) | Cyanosis | 60 / 7739 | ||||
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(HPO:0001063) | Acrocyanosis | 56 / 7739 | ||||
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(HPO:0001901) | Polycythemia | 16 / 7739 | ||||
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(HPO:0011947) | Respiratory tract infection | 28 / 7739 | ||||
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(HPO:0002105) | Hemoptysis | 30 / 7739 | ||||
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(HPO:0002094) | Dyspnea | 132 / 7739 | ||||
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(HPO:0002205) | Recurrent respiratory infections | 254 / 7739 | ||||
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(HPO:0002090) | Pneumonia | 59 / 7739 | ||||
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(HPO:0012418) | Hypoxemia | 18 / 7739 | ||||
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(HPO:0100806) | Sepsis | 48 / 7739 | ||||
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(OMIM) | Bronchoalveolar lavage fluid contains large, foamy macrophages | 1 / 7739 | ||||
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(OMIM) | Defective neutrophil function | 1 / 7739 | ||||
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(OMIM) | Dyspnea, progressive | 2 / 7739 | ||||
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(OMIM) | Radiology suggestive of pneumonia | 1 / 7739 | ||||
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(OMIM) | Pulmonary function tests show restrictive ventilatory defect | 1 / 7739 | ||||
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(OMIM) | Inspiratory crackles (50%) | 4 / 7739 | ||||
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(OMIM) | Ventilation-perfusion inequality with intrapulmonary shunting and widened alveolar-arteriolar diffusion gradient | 1 / 7739 | ||||
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(OMIM) | Radiology shows bilateral airspace disease with ill-defined nodular or confluent pattern with perihilar predominance | 1 / 7739 | ||||
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([DEL]MedDRA:10011224) | Cough | 70 / 7739 | ||||
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(OMIM) | Serum IgG autoantibodies to granulocyte/macrophage colony-stimulating factor (GM-CSF, CSF2, 138960) | 1 / 7739 | ||||
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(OMIM) | Opportunistic infections include Nocardia asteroides and Mycobacterium avium complex | 1 / 7739 | ||||
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(OMIM) | Digital clubbing due to chronic hypoxia | 1 / 7739 | ||||
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(OMIM) | CT scan shows patchy, ground-glass opacifications with superimposed interlobular septal and intralobular thickening leading to 'crazy paving' pattern | 1 / 7739 | ||||
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(OMIM) | Secondary respiratory infections | 1 / 7739 | ||||
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(OMIM) | Defective macrophage function | 1 / 7739 | ||||
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(OMIM) | Accumulation of surfactant protein | 1 / 7739 | ||||
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(OMIM) | Alveoli accumulate PAS-positive eosinophilic lipoproteinaceous material | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Pulmonary alveolar proteinosis is a pathologic entity characterized by intraalveolar surfactant accumulation. There are 3 clinically distinct forms: hereditary (usually congenital), secondary, and acquired. The acquired form of pulmonary alveolar proteinosis is the most common form, accounting for ... |
| Clinical Description OMIM |
Acquired pulmonary alveolar proteinosis was first described by Rosen et al. (1958). There are only rare references to possible familial occurrence (Seard et al., 1970; Tsubura et al., 1974; Webster et al., 1980). The clinical course ... |