Hereditary pulmonary alveolar proteinosis
Synonyms: Congenital PAP · Congenital pulmonary alveolar proteinosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare, genetic, interstitial lung disease due to mutations in the CSF2R (colony-stimulating factor 2 receptor) alpha or beta subunits and characterized by alveolar accumulation of pulmonary surfactant, presenting a highly variable clinical presentation, ranging from asymptomatic to severe respiratory failure. Characteristic lung biopsy findings include periodic acid-Schiff-positive, granular eosinophilic material, enlarged foamy alveolar macrophages, and well-preserved alveolar walls. The Granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor function is impaired but GM-CSF receptor autoantibodies are absent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary pulmonary alveolar proteinosis | Congenital PAP · Congenital pulmonary alveolar proteinosis |
| fr | Protéinose alvéolaire pulmonaire héréditaire | Protéinose alvéolaire pulmonaire congénitale · PAP congénitale |
| de | Pulmonale Alveolarproteinose, hereditäre Form | Alveolarproteinose, pulmonale kongenitale · PAP, kongenitale |
| es | Proteinosis alveolar pulmonar hereditaria | PAP congénita · Proteinosis alveolar pulmonar congénita |
| it | Proteinosi alveolare polmonare ereditaria | PAP congenita · Proteinosi alveolare polmonare congenita |
| nl | Erfelijke pulmonale alveolaire proteïnose | Congenitale PAP · Congenitale pulmonale alveolaire proteïnose |
| pt | Proteinose congénita dos alvéolos pulmonares | |
| pl | Wrodzona proteinoza pęcherzyków płucnych | Wrodzona PAP |
| cs | Dědičná plicní alveolární proteinóza | Vrozená PAP · Vrozená plicní alveolární proteinóza |
| uk | Спадковий пульмонарний альвеолярний протеїноз | Вроджений PAP · Вроджений альвеолярний протеїноз легень |
| zh | 遗传性肺泡蛋白沉积症 | 先天性肺泡蛋白沉积症 |
| tr | Kalıtsal pulmoner alveolar proteinoz | Doğumsal PAP · Doğumsal pulmoner alveolar proteinoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300770 | BTNT | validated | |
| OMIM | 614370 | BTNT | validated | |
| ICD-10 | J84.0 | NTBT | attributed | validated |
| ICD-11 | CB04.31 | NTBT | index | validated |
| MONDO | 0012580 | E | validated | |
| MeSH | C535832 | E | validated | |
| UMLS | C2931035 | E | validated | |
| GARD | 4582 | 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 (2):
- ORPHA:674896Non-syndromic congenital phagocyte functional defect
rare genetic diseases; rare immunological diseases - ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CSF2RA | Disease-causing germline mutation(s) in | Assessed | HGNC:2435 | ENSG00000198223 | 306250 | Xp22.32 and Yp11.3 | colony stimulating factor 2 receptor subunit alpha | 18955570[PMID] |
| CSF2RB | Disease-causing germline mutation(s) in | Assessed | HGNC:2436 | ENSG00000100368 | 138981 | 22q12.3 | colony stimulating factor 2 receptor subunit beta | 21075760[PMID]_21205713[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20622029[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
15 annotations · validated 2019-02-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010876 | Abnormal circulating protein level | |
| Frequent (79-30%) | ||
| HP:0025391 | Crazy paving pattern on pulmonary HRCT | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0012418 | Hypoxemia | |
| HP:0002098 | Respiratory distress | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0011949 | Acute infectious pneumonia | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0012735 | Cough | |
| HP:0030830 | Crackles | |
| HP:0031029 | Elevated carcinoembryonic antigen level | |
| HP:0003651 | Foam cells | |
| HP:0001649 | Tachycardia | |
| HP:0002789 | Tachypnea | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 28212655[PMID]_21075760[PMID]_9410898[PMID]_18955570[PMID]_18955567[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/264675
- This record as JSON: /data/d/264675.json