Pleural mesothelioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
A rare, aggressive respiratory tumor arising from mesothelial cells of the pleura characterized by chest pain, dyspnea, cough and fatigue. It is strongly associated with asbestos exposure and typically develops after a long latency period (20-40 years). It usually presents as a diffuse invasive tumor but may also occur as a localized mass or as pleural mesothelioma in situ, a preinvasive lesion confined to the pleural surface.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pleural mesothelioma | |
| fr | Mésothéliome pleural | |
| de | Mesotheliom | |
| es | Mesotelioma pleural | |
| it | Mesotelioma pleurico | |
| nl | Pleuraal mesothelioom | |
| pt | Mesotelioma | |
| pl | Międzybłoniak opłucnej | |
| cs | Pleurální mezoteliom | |
| uk | Мезотеліома плеври | |
| zh | 胸膜间皮瘤 | |
| tr | Plevral mezotelyoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156240 | E | validated | |
| ICD-10 | C45.0 | E | specific | validated |
| ICD-11 | 2C26.0 | E | specific | validated |
| MONDO | 0006292 | E | validated | |
| MeSH | D008654 | E | validated | |
| UMLS | C1377913 | E | validated | |
| GARD | 7026 | E | validated | |
| MedDRA | 10035603 | 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:101945Rare bronchopulmonary and pleural cavity tumors
rare respiratory diseases; rare neoplastic diseases
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BAP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:950 | ENSG00000163930 | 603089 | 3p21.1 | BRCA1 associated deubiquitinase 1 | 27181379[PMID] |
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Annual incidence | 1-9 / 100 000 | 1.9 / 100 000 | Europe | Value and class | Not yet validated | 22406029[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.8 / 100 000 | France | Value and class | Validated | 19569174[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.0003 / 100 000 | Worldwide | Value and class | Validated | International Agency for Research on Cancer[OTHER]_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
17 annotations · validated 2017-12-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002202 | Pleural effusion | |
| Frequent (79-30%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0100749 | Chest pain | |
| HP:0025142 | Constitutional symptom | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0002098 | Respiratory distress | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0002015 | Dysphagia | |
| HP:0007011 | Fourth cranial nerve palsy | |
| HP:0002240 | Hepatomegaly | |
| HP:0002716 | Lymphadenopathy | |
| HP:0031041 | Obstruction of the superior vena cava | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29179896[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50251
- This record as JSON: /data/d/50251.json