PPB
MCID: PLR004
MIFTS: 43

Pleuropulmonary Blastoma (PPB) malady

Respiratory, Cancer, Genetic categories

Summaries for Pleuropulmonary Blastoma

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

MalaCards: Pleuropulmonary Blastoma, also known as pulmonary blastoma, is related to blastoma and dicer1-related pleuropulmonary blastoma cancer predisposition syndrome. An important gene associated with Pleuropulmonary Blastoma is DICER1 (dicer 1, ribonuclease type III), and among its related pathways are RNAi Pathway and Regulatory RNA pathways. The compounds hmba and paraffin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, kidney and lymph node.

Disease Ontology:8 A pulmonary blastoma that derives from the lung or pleural cavity.

Description from OMIM:47 601200

Aliases & Classifications for Pleuropulmonary Blastoma

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Respiratory


Characteristics (Orphanet epidemiological data):

49
pleuro-pulmonary blastoma family tumor susceptibility syndrome:
Inheritance: Autosomal dominant; Age of onset: Adolescence / Young adulthood
pleuropulmonary blastoma:
Inheritance: Autosomal dominant,Sporadic; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

pleuropulmonary blastoma 8 9 43 20 22 47 10 49 61
pulmonary blastoma 43 61
pleuro-pulmonary blastoma family tumor susceptibility syndrome 49
pleuropulmonary blastoma family tumor susceptibility syndrome 49
ppb family tumor susceptibility syndrome 49
dicer1 syndrome 49
ppbftds 49
ppb 43


External Ids:

Disease Ontology8 DOID:4769
NCIt40 C5669
MeSH35 C537516
SNOMED-CT57 128763002
OMIM47 601200
ICD10 via Orphanet26 C34

Related Diseases for Pleuropulmonary Blastoma

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Pleuropulmonary Blastoma family:

pleuropulmonary blastoma type 1 pleuropulmonary blastoma type 2
pleuropulmonary blastoma type 3

Diseases related to Pleuropulmonary Blastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1blastoma11.3
2dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.7
3cystic nephroma10.7
4classic pulmonary blastoma10.6
5adenoma10.6
6medulloepithelioma10.4
7thyroid cancer10.4
8spontaneous pneumothorax10.4
9teratoma10.4
10pleuropulmonary blastoma type 110.4
11pleuropulmonary blastoma type 210.4
12pleuropulmonary blastoma type 310.4
13epithelial predominant pulmonary blastoma10.3
14embryoma10.2
15spindle cell carcinoma10.2
16adenocarcinoma10.2
17neurofibromatosis10.2
18adult cystic teratoma10.2
19polycystic kidney disease10.2
20adult teratoma10.2
21autosomal recessive disease10.2
22polycystic kidney disease, autosomal recessive10.2
23congenital lobar emphysema10.2
24fetal lung interstitial tumor10.2
25hematopoietic stem cell transplantation10.2
26pulmonary systemic sclerosis10.1
27small cell carcinoma10.1
28bronchitis10.1
29hypercalcemia10.1
30bronchogenic carcinoma10.1
31embryonal sarcoma10.1
32pulmonary sequestration10.1
33tumor predisposition syndrome10.0
34cerebral primitive neuroectodermal tumor10.0MYCN
35ganglioneuroblastoma10.0MYCN
36wilms tumor10.0MYCN
37esophageal cancer10.0TP53
38hepatitis c10.0SERPINA1
39li-fraumeni syndrome10.0TP53
40skin cancer10.0TP53
41kidney cancer10.0TP53
42lung cancer10.0TP53
43sarcoma10.0MYCN, TP53
44rhabdomyosarcoma10.0TP53, MYCN
45colorectal cancer10.0MYCN, SERPINA1, TP53

Graphical network of the top 20 diseases related to Pleuropulmonary Blastoma:



Diseases related to pleuropulmonary blastoma

Clinical Features for Pleuropulmonary Blastoma

Sources:
47OMIM
See all sources

Clinical features from OMIM:

601200

Clinical synopsis from OMIM:

601200

Drugs & Therapeutics for Pleuropulmonary Blastoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Pleuropulmonary Blastoma

Drug clinical trials:

Search ClinicalTrials for Pleuropulmonary Blastoma

Search NIH Clinical Center for Pleuropulmonary Blastoma

Search CenterWatch for Pleuropulmonary Blastoma

Genetic Tests for Pleuropulmonary Blastoma

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Pleuropulmonary Blastoma:

id Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma20 22 DICER1

Anatomical Context for Pleuropulmonary Blastoma

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

33
Spinal cord, Kidney, Lymph node, Lung, Thyroid, T cells, Fetal lung, Fetal thyroid

Animal Models for Pleuropulmonary Blastoma or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pleuropulmonary Blastoma

Sources:
51PubMed
See all sources

Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
2
An unusual manifestation of a rare pleuropulmonary blastoma presenting with spinal cord compression and its neurosurgical implications. (23639617)
2013
3
Pleuropulmonary blastoma. (24003574)
2013
4
Translocation t(12;17)(q24.1;q21) as the sole anomaly in a nasal chondromesenchymal hamartoma arising in a patient with pleuropulmonary blastoma. (22356457)
2012
5
Pleuropulmonary blastoma: a single-institution experience. (22584785)
2012
6
Pleuropulmonary blastoma as characteristic cause of pneumothorax. (22134609)
2012
7
Follicular thyroid carcinoma arising after hematopoietic stem cell transplantation in a child with pleuropulmonary blastoma. (22468940)
2012
8
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
2011
9
Great vessel/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. (21298746)
2011
10
Bilateral cystic nephroma with pleuropulmonary blastoma. (22688934)
2011
11
Pleuropulmonary blastoma with intrabronchial extension. (20127851)
2010
12
Nasal chondromesenchymal hamartoma in children with pleuropulmonary blastoma--A report from the International Pleuropulmonary Blastoma Registry registry. (20822816)
2010
13
Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up. (19322126)
2009
14
Pleuropulmonary blastoma in an infant. (19904509)
2009
15
DICER1 mutations in familial pleuropulmonary blastoma. (19556464)
2009
16
A familial case of pleuropulmonary blastoma. (18493897)
2008
17
Pediatric thyroid cancer arising as a fourth cancer in a child with pleuropulmonary blastoma. (18000857)
2008
18
Pediatric thyroid cancer arising after treatment for pleuropulmonary blastoma. (17514738)
2008
19
An autopsy report of a rare pediatric lung tumor: pleuropulmonary blastoma. (18603688)
2008
20
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
21
Pleuropulmonary blastoma. A rare childhood malignancy. (17768479)
2007
22
An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. (16808637)
2006
23
Type 1 pleuropulmonary blastoma in a 3-year-old male with a cystic lung mass. (17101339)
2006
24
An aggressive childhood tumor mimicking pleural empyema: pleuropulmonary blastoma. (16679926)
2006
25
Prenatal presentation and outcome of children with pleuropulmonary blastoma. (16410110)
2006
26
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
27
Comparative genomic hybridization analysis of a pleuropulmonary blastoma. (15104284)
2004
28
Pleuropulmonary blastoma in a child presenting with spontaneous pneumothorax. (12757087)
2003
29
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
30
Gains of chromosome 8 are confined to mesenchymal components in pleuropulmonary blastoma. (11779045)
2001
31
Synchronous occurrence of pleuropulmonary blastoma and cystic nephroma: possible genetic link in cystic lesions of the lung and the kidney. (10881016)
2000
32
Pleuropulmonary blastoma: A case report documenting transition from type I (cystic) to type III (solid). (10870072)
2000
33
Bilateral cystic pleuropulmonary blastoma in early infancy. (10839886)
2000
34
The cytomorphology of pleuropulmonary blastoma. (10705397)
2000
35
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
36
Pleuropulmonary blastoma: long-term survival and literature review. (10491545)
1999
37
Pleuropulmonary blastoma. (9917754)
1999
38
Pleuropulmonary blastoma and ovarian teratoma. (10602867)
1999
39
Pleuropulmonary blastoma in a child. (10221028)
1999
40
Role of radiotherapy in conjunction with chemotherapy in giant pleuropulmonary blastoma. (9707868)
1998
41
Pleuropulmonary blastoma: diagnosis by fine-needle aspiration cytology: a case report. (9784998)
1998
42
Fine-needle aspiration cytology of pleuropulmonary blastoma: case report and review of the literature. (9143827)
1997
43
"Bad-risk childhood pleuropulmonary blastoma: does chemoradiotherapy help?". (9212853)
1997
44
Pleuropulmonary blastoma: fluorescence in situ hybridization analysis indicating trisomy 2. (9236843)
1997
45
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
1996
46
Pleuropulmonary blastoma with vascular invasion. (8553935)
1996
47
Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies? (8063284)
1994
48
Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. (7809508)
1994
49
Familial cystic nephroma and pleuropulmonary blastoma. (8280234)
1993
50
Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. (3048630)
1988

Genetic Variations for Pleuropulmonary Blastoma

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pleuropulmonary Blastoma:

63
id Symbol AA change Variation SNP ID
1DICER1p.Leu1583ArgVAR_063150

Expression for genes affiliated with Pleuropulmonary Blastoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Pleuropulmonary Blastoma

Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for genes affiliated with Pleuropulmonary Blastoma

Sources:
52QIAGEN, 54Reactome
See all sources

Pathways related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TARBP2, DICER1
2
Hide members
9.0TARBP2, XPO5, DICER1

Compounds for genes affiliated with Pleuropulmonary Blastoma

Sources:
45Novoseek
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Compounds related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hmba458.9TP53, MYCN
2paraffin458.7TP53, SERPINA1, MYCN

GO Terms for genes affiliated with Pleuropulmonary Blastoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RISC complexGO:0164429.3TARBP2, DICER1
2chromatinGO:0007859.2TP53, MYCN

Biological processes related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1production of siRNA involved in RNA interferenceGO:0304229.6TARBP2, DICER1
2targeting of mRNA for destruction involved in RNA interferenceGO:0304239.5TARBP2, DICER1
3multicellular organism growthGO:0352649.3TP53, DICER1
4pre-miRNA processingGO:0310549.3TARBP2, DICER1

Molecular functions related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.1TP53, SERPINA1

Products for genes affiliated with Pleuropulmonary Blastoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pleuropulmonary Blastoma

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet