Pleuropulmonary blastoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare respiratory tumor characterized by an aggressive, malignant, dysontogenetic neoplasm of intrathoracic (pulmonary, pleural, or combined) mesenchyme occurring in young children. Three subtypes can be distinguished, type 1 being purely cystic, type 2 cystic and solid, and type 3 purely solid. Type 1 lesions may progress to the more malignant types 2 and 3, which are associated with central nervous system and bone metastasis. The tumor is often part of pleuropulmonary blastoma family tumor and dysplasia syndrome. It can also be associated with multilocular cystic nephroma or other neoplasms. Patients usually present with dyspnea or other respiratory problems, and sometimes pneumothorax.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pleuropulmonary blastoma | |
| fr | Blastome pleuropulmonaire | |
| de | Pleuro-pulmonales Blastom | |
| es | Blastoma pleuropulmonar | Blastoma pleuro-pulmonar |
| it | Blastoma pleuropolmonare | |
| nl | Pleuropulmonaal blastoom | |
| pt | Blastoma pleuro-pulmonar | |
| pl | Blastoma płuc i opłucnej | |
| cs | Pleuropulmonální blastom | |
| uk | Плевропульмонарна бластома | |
| zh | 胸膜肺母细胞瘤 | |
| tr | Plöropulmoner blastom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601200 | E | validated | |
| ICD-10 | C34.1 | BTNT | attributed | validated |
| ICD-10 | C34.2 | BTNT | attributed | validated |
| ICD-10 | C34.3 | BTNT | attributed | validated |
| ICD-10 | C34.8 | BTNT | attributed | validated |
| ICD-10 | C34.9 | BTNT | attributed | validated |
| ICD-11 | 2C25.Y | NTBT | index | validated |
| ICD-11 | XH2FY9 | E | specific | validated |
| MONDO | 0011014 | E | validated | |
| MeSH | C537516 | E | validated | |
| UMLS | C1266144 | E | validated | |
| GARD | 8757 | E | validated | |
| MedDRA | 10080682 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64742
- This record as JSON: /data/d/64742.json