Autoimmune pulmonary alveolar proteinosis
Synonyms: Autoimmune PAP · aPAP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary interstitial lung disease characterized by the accumulation of lipids and proteins related to surfactant in the alveoli in association with the presence of antibodies against granulocyte-macrophage colony-stimulating factor (GM-CSF). The disease leads to a progressive impairment of gas exchange and respiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune pulmonary alveolar proteinosis | Autoimmune PAP · aPAP |
| fr | Protéinose alvéolaire pulmonaire auto-immune | PAP auto-immune · aPAP |
| de | Pulmonale Alveolarproteinose, autoimmune | PAP, autoimmune · PAP, idiopathische · Pulmonale Alveolarproteinose, idiopathische · aPAP · iPAP |
| es | Proteinosis alveolar pulmonar autoinmune | PAP autoinmune · PAPa |
| it | Proteinosi alveolare polmonare autoimmune | PAP autoimmune · aPAP |
| nl | Auto-immune pulmonale alveolaire proteïnose | Auto-immune PAP · aPAP |
| pt | Proteinose alveolar pulmonar autoimune | PAP autoimune |
| pl | Autoimmunologiczna proteinoza pęcherzyków płucnych | aPAP · Autoimmunologiczna PAP · Idiopatyczna PAP · Idiopatyczna proteinoza pęcherzyków płucnych · iPAP |
| cs | Autoimunitní plicní alveolární proteinóza | Autoimunitní PAP · Idiopatická PAP · Idiopatická plicní alveolární proteinóza · aPAP · iPAP |
| uk | Аутоімунний альвеолярний протеїноз легень | aPAP · Аутоімунний PAP |
| zh | 自身免疫性肺泡蛋白沉积症 | 特发性肺泡蛋白沉积症 |
| tr | Otoimmün pulmoner alveolar proteinoz | aPAP · iPAP · Otoimmün PAP · İdiyopatik PAP · İdiyopatik pulmoner alveolar proteinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610910 | E | validated | |
| ICD-10 | J84.0 | NTBT | inclusion | validated |
| ICD-11 | CB04.31 | NTBT | index | validated |
| MONDO | 0012579 | E | validated | |
| UMLS | C1970472 | E | validated | |
| GARD | 7499 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:264740Primary interstitial lung disease specific to adulthood
rare respiratory diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 33589587[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.165 / 100 000 | Japan | Value and class | Validated | 30895185[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 2.66 / 100 000 | Japan | Value and class | Validated | 30895185[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 2.66 / 100 000 | Worldwide | Value and class | Validated | 30895185[PMID]_30064481[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.687 / 100 000 | United States | Value and class | Validated | 30064481[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
20 annotations · validated 2017-10-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006517 | Intraalveolar phospholipid accumulation | |
| Frequent (79-30%) | ||
| HP:0010876 | Abnormal circulating protein level | |
| HP:0002087 | Abnormality of the upper respiratory tract | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0001217 | Clubbing | |
| HP:0000961 | Cyanosis | |
| HP:0045051 | Decreased DLCO | |
| HP:0002094 | Dyspnea | |
| HP:0003651 | Foam cells | |
| HP:0012418 | Hypoxemia | |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0012735 | Cough | |
| HP:0030830 | Crackles | |
| HP:0025391 | Crazy paving pattern on pulmonary HRCT | |
| Very rare (<4-1%) | ||
| HP:0100749 | Chest pain | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002105 | Hemoptysis | |
| HP:0001824 | Weight loss | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 21632797[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/747
- This record as JSON: /data/d/747.json