Pleuropulmonary blastoma

General Information (adopted from Orphanet):

Synonyms, Signs: PPBFTDS
PPB FAMILIAL TUMOR AND DYSPLASIA SYNDROME
PPB
Number of Symptoms 8
OrphanetNr: 64742
OMIM Id: 601200
ICD-10: C34
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare bronchopulmonary tumor
 -Rare oncologic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0002885) Medulloblastoma 20 / 7739
2
(HPO:0100528) Pleuropulmonary blastoma 2 / 7739
3
(HPO:0002859) Rhabdomyosarcoma 10 / 7739
4
(MedDRA:10068749) Lung cyst 3 / 7739
5
(OMIM) Goiter may occur 2 / 7739
6
(OMIM) Associated with other malignancies 2 / 7739
7
(OMIM) Lung tumor with mesenchymal components 2 / 7739
8
(OMIM) Cystic nephroma 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early ...
Clinical Description OMIM Priest et al. (1996) collected information on the families of 45 children with pleuropulmonary blastoma (PPB) as well as on the children themselves. Pleuropulmonary blastoma is a rare and distinct intrathoracic neoplasm. The tumor arises from the lung, ...
Molecular genetics OMIM Of the 72 genes within the 7-Mb region of interest, Hill et al. (2009) chose DICER as an attractive candidate because of its role in lung development. Harris et al. (2006) had shown that conditional loss of DICER1 ...