PPB
MCID: PLR004
MIFTS: 51

Pleuropulmonary Blastoma (PPB) malady

Respiratory diseases, Cancer diseases, Genetic diseases categories

Summaries for Pleuropulmonary Blastoma

About this section
Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:63 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 rhabdomyosarcoma and sarcoma. 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 lung, kidney and fetal lung.

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

Description from OMIM:46 601200

Aliases & Classifications for Pleuropulmonary Blastoma

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 22 46 10 48 60
pulmonary blastoma 42 60
pleuro-pulmonary blastoma family tumor susceptibility syndrome 48
pleuropulmonary blastoma family tumor susceptibility syndrome 48
ppb family tumor susceptibility syndrome 48
dicer1 syndrome 48
ppbftds 48
ppb 42


External Ids:

Disease Ontology8 DOID:4769
NCIt39 C5669
MeSH34 C537516
SNOMED-CT56 128763002
OMIM46 601200
ICD10 via Orphanet26 C34
SNOMED-CT via Orphanet57 128763002

Related Diseases for Pleuropulmonary Blastoma

About this section
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 top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.2TP53, MYCN
2sarcoma30.0MYCN, TP53
3blastoma11.2
4pulmonary blastoma10.7
5dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.7
6cystic nephroma10.6
7classic pulmonary blastoma10.6
8pneumothorax10.6
9cerebritis10.4
10medulloepithelioma10.4
11thyroiditis10.4
12thyroid cancer10.3
13pleuropulmonary blastoma type 110.3
14pleuropulmonary blastoma type 210.3
15pleuropulmonary blastoma type 310.3
16epithelial predominant pulmonary blastoma10.3
17embryoma10.2
18spindle cell carcinoma10.2
19adenocarcinoma10.2
20neurofibromatosis10.2
21adult cystic teratoma10.2
22polycystic kidney disease10.2
23adult teratoma10.2
24autosomal recessive disease10.2
25cervicitis10.2
26conjunctivitis10.2
27cystic kidney10.2
28cystic teratoma10.2
29follicular thyroid carcinoma10.2
30kidney disease10.2
31mediastinitis10.2
32pancreatitis10.2
33pleural empyema10.2
34polycystic kidney disease, autosomal recessive10.2
35pulmonary systemic sclerosis10.1
36small cell carcinoma10.1
37bronchitis10.1
38hypercalcemia10.1
39bronchogenic carcinoma10.1
40laryngitis10.1
41lung adenocarcinoma10.1
42lung sarcoma10.1
43melanoma10.1
44embryonal rhabdomyosarcoma10.0
45hermaphroditism10.0
46cerebral primitive neuroectodermal tumor10.0MYCN
47ganglioneuroblastoma10.0MYCN
48wilms tumor10.0MYCN
49esophageal cancer10.0TP53
50hepatitis c10.0SERPINA1

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



Diseases related to pleuropulmonary blastoma

Clinical Features for Pleuropulmonary Blastoma

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

601200

Clinical synopsis from OMIM:

601200

Drugs & Therapeutics for Pleuropulmonary Blastoma

About this section
Sources:
5CenterWatch, 41NIH 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

About this section
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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

32
Lung, Kidney, Fetal lung, Thyroid, Spinal cord, Lymph node

Animal Models for Pleuropulmonary Blastoma or affiliated genes

About this section

Publications for Pleuropulmonary Blastoma

About this section
Sources:
50PubMed
See all sources

Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Thoracoscopic lobectomy for type I pleuropulmonary blastoma in an infant. (23588846)
2014
2
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. (23613510)
2013
3
Pleuropulmonary blastoma. (24003574)
2013
4
FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation. (24004862)
2013
5
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
6
Follicular thyroid carcinoma arising after hematopoietic stem cell transplantation in a child with pleuropulmonary blastoma. (22468940)
2012
7
Great vessel/cardiac extension and tumor embolism in pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. (21298746)
2011
8
Pleuropulmonary blastoma presenting as a complicated pleural effusion. (21466054)
2011
9
Bilateral cystic nephroma with pleuropulmonary blastoma. (22688934)
2011
10
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
11
Pleuropulmonary blastoma with intrabronchial extension. (20127851)
2010
12
Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up. (19322126)
2009
13
Pleuropulmonary blastoma type I following resection of incidentally found congenital lobar emphysema. (19772009)
2009
14
Pleuropulmonary blastoma in an infant. (19904509)
2009
15
High therapeutic effectiveness of postoperative irinotecan chemotherapy in a typical case of radiographically and pathologically diagnosed pleuropulmonary blastoma. (19415019)
2009
16
A familial case of pleuropulmonary blastoma. (18493897)
2008
17
Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry. (18223332)
2008
18
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
19
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
20
Pleuropulmonary blastoma. A rare childhood malignancy. (17768479)
2007
21
An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. (16808637)
2006
22
Autologous peripheral blood stem cell transplantation in a patient with relapsed pleuropulmonary blastoma. (16794508)
2006
23
Type 1 pleuropulmonary blastoma in a 3-year-old male with a cystic lung mass. (17101339)
2006
24
Pneumothorax and pulmonary cyst in a 2-year-old child. Pleuropulmonary blastoma. (16594758)
2006
25
Cytogenetic and p53 profiles in congenital cystic adenomatoid malformation: insights into its relationship with pleuropulmonary blastoma. (16944975)
2006
26
Prenatal presentation and outcome of children with pleuropulmonary blastoma. (16410110)
2006
27
Pleuropulmonary blastoma: cytogenetic and spectral karyotype analysis. (17163790)
2006
28
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
29
Cerebral metastasis proven 1 year after an embolic cerebral infarct from pleuropulmonary blastoma. (14647995)
2004
30
Pleuropulmonary blastoma--a rare pathology. (16295472)
2004
31
Pleuropulmonary blastoma in a child presenting with spontaneous pneumothorax. (12757087)
2003
32
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
33
Pleuropulmonary blastoma. (11558020)
2001
34
Pleuropulmonary blastoma in congenital cystic adenomatoid malformation: report of a case. (11475118)
2001
35
Pleuropulmonary blastoma: A case report documenting transition from type I (cystic) to type III (solid). (10870072)
2000
36
Pancreatic metastasis of a pleuropulmonary blastoma in an adult. (11205471)
2000
37
Bilateral cystic pleuropulmonary blastoma in early infancy. (10839886)
2000
38
The cytomorphology of pleuropulmonary blastoma. (10705397)
2000
39
Use of multicolor spectral karyotyping in genetic analysis of pleuropulmonary blastoma. (10890933)
2000
40
Pleuropulmonary blastoma: long-term survival and literature review. (10491545)
1999
41
Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. (10442587)
1999
42
Pleuropulmonary blastoma. (9917754)
1999
43
Pleuropulmonary blastoma in a child. (10221028)
1999
44
Fine-needle aspiration cytology of pleuropulmonary blastoma: case report and review of the literature. (9143827)
1997
45
Trisomy 8 is a characteristic finding in pleuropulmonary blastoma. (9050063)
1997
46
Pleuropulmonary blastoma: fluorescence in situ hybridization analysis indicating trisomy 2. (9236843)
1997
47
A rare tumor masquerading as an empyema: pleuropulmonary blastoma. (9016475)
1996
48
Pleuropulmonary blastoma is THE pulmonary blastoma of childhood. (7809508)
1994
49
Pleuropulmonary blastoma in childhood. A tumor of divergent differentiation. (7684203)
1993
50
Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. (3048630)
1988

Genetic Variations for Pleuropulmonary Blastoma

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Pleuropulmonary Blastoma:

62
id Symbol AA change Variation ID SNP ID
1DICER1p.Leu1583ArgVAR_063150

Expression for genes affiliated with Pleuropulmonary Blastoma

About this section
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

About this section
Sources:
51QIAGEN, 53Reactome
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

About this section
Sources:
44Novoseek
See all sources

Compounds related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1hmba448.9TP53, MYCN
2paraffin448.7TP53, SERPINA1, MYCN

GO Terms for genes affiliated with Pleuropulmonary Blastoma

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pleuropulmonary Blastoma

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet