Pulmonary alveolar microlithiasis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
A rare genetic respiratory disease characterized by widespread intra-alveolar accumulation of minute calcium phosphate microliths, leading to pulmonary fibrosis, pulmonary hypertension, and chronic respiratory failure. Age of onset is highly variable, and most patients are asymptomatic for years or decades, before signs and symptoms like dyspnea on exertion, dry cough, chest pain, hemoptysis, or finger clubbing develop. The disease takes a long-term progressive course. Routine chest radiographs typically show a fine, ''sandstorm-like'' micronodular pattern that is more pronounced in the bases than in the apices.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary alveolar microlithiasis | |
| fr | Microlithiase pulmonaire alvéolaire | |
| de | Mikrolithiasis, alveoläre pulmonale | |
| es | Microlitiasis alvéolo-pulmonar | |
| it | Microlitiasi alveolare polmonare | |
| nl | Pulmonale alveolaire microlithiasis | |
| pt | Microlitíase alveolar pulmonar | |
| pl | Kamica pcherzyków płucnych | |
| cs | Plicní alveolární mikrolitiáza | |
| uk | Легеневий альвеолярний мікролітіаз | |
| zh | 肺泡微石症 | |
| tr | Pulmoner alveolar mikrolitiyazis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265100 | E | validated | |
| ICD-10 | J84.0 | NTBT | inclusion | validated |
| ICD-11 | CB06 | E | specific | validated |
| MONDO | 0009928 | E | validated | |
| MeSH | C562405 | E | validated | |
| UMLS | C0155912 | E | validated | |
| GARD | 11894 | E | validated | |
| MedDRA | 10037315 | 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:156610Rare genetic respiratory disease
rare genetic diseases - ORPHA:97955Rare respiratory disease
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC34A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11020 | ENSG00000157765 | 604217 | 4p15.2 | solute carrier family 34 member 2 | 20046000[PMID]_23164546[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
43 annotations · validated 2021-09-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100749 | Chest pain | |
| HP:0002094 | Dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0032094 | Increased circulating surfactant protein level | |
| HP:0005317 | Increased pulmonary vascular resistance | |
| HP:0031246 | Nonproductive cough | |
| HP:0030874 | Oxygen desaturation on exertion | |
| HP:0002091 | Restrictive ventilatory defect | |
| Occasional (29-5%) | ||
| HP:0002110 | Bronchiectasis | |
| HP:0100759 | Clubbing of fingers | |
| HP:0000961 | Cyanosis | |
| HP:0002875 | Exertional dyspnea | |
| HP:0003473 | Fatigable weakness | |
| HP:0002105 | Hemoptysis | |
| HP:0002240 | Hepatomegaly | |
| HP:0012418 | Hypoxemia | |
| HP:0030879 | Interlobular septal thickening on pulmonary HRCT | |
| HP:0012398 | Peripheral edema | |
| HP:0031944 | Pleural thickening | |
| HP:0002107 | Pneumothorax | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001708 | Right ventricular failure | |
| HP:0025178 | Subpleural interstitial thickening | |
| HP:0002789 | Tachypnea | |
| HP:0001824 | Weight loss | |
| Very rare (<4-1%) | ||
| HP:0012387 | Bronchitis | |
| HP:0004963 | Calcification of the aorta | |
| HP:0004724 | Calcium nephrolithiasis | |
| HP:0000144 | Decreased fertility | |
| HP:0010766 | Ectopic calcification | |
| HP:0001945 | Fever | |
| HP:0008703 | Gonadal calcification | |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT | |
| HP:0000790 | Hematuria | |
| HP:0004382 | Mitral valve calcification | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0002878 | Respiratory failure | |
| HP:0011947 | Respiratory tract infection | |
| HP:0004241 | Stippled calcification in carpal bones | |
| HP:0012215 | Testicular microlithiasis | |
| Excluded (0%) | ||
| HP:0100529 | Abnormal blood phosphate concentration | |
| HP:0004363 | Abnormal circulating calcium concentration | |
Annotation source: 33246992[PMID]_32964001 [PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/60025
- This record as JSON: /data/d/60025.json