PPB
MCID: PLR004
MIFTS: 56

Pleuropulmonary Blastoma (PPB) malady

Genetic diseases, Rare diseases, Respiratory diseases, Cancer diseases categories
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Summaries for Pleuropulmonary Blastoma

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Sources:
8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 adenocarcinoma. An important gene associated with Pleuropulmonary Blastoma is DICER1 (dicer 1, ribonuclease type III), and among its related pathways are RNAi Pathway and Translational Control. The compounds agarose and hmba have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and fetal lung, and related mouse phenotypes are limbs/digits/tail and reproductive system.

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

Description from OMIM:47 601200

Aliases & Classifications for Pleuropulmonary Blastoma

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



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 62
pulmonary blastoma 43 62
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
OMIM47 601200
NCIt40 C5669
MeSH35 C537516
SNOMED-CT58 128763002
MESH via Orphanet36 C537516
ICD10 via Orphanet26 C34
SNOMED-CT via Orphanet59 128763002
UMLS via Orphanet63 C1266144

Related Diseases for Pleuropulmonary Blastoma

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Sources:
17GeneCards, 18GeneDecks
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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 52)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.3TP53, MYCN
2adenocarcinoma30.2MYCN, SERPINA1, TP53
3melanoma30.0MYCN, SERPINA1, TP53
4blastoma11.3
5cystic nephroma10.7
6pulmonary blastoma10.6
7pneumothorax10.6
8dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.6
9classic pulmonary blastoma10.5
10pleuropulmonary blastoma type 110.5
11cerebritis10.5
12medulloepithelioma10.5
13thyroiditis10.5
14dicer1-related disorders10.5
15thyroid cancer10.4
16spontaneous pneumothorax10.4
17teratoma10.4
18pleuropulmonary blastoma type 210.4
19pleuropulmonary blastoma type 310.4
20epithelial predominant pulmonary blastoma10.3
21spindle cell carcinoma10.2
22embryoma10.2
23neurofibromatosis10.2
24polycystic kidney disease10.2
25cervicitis10.2
26conjunctivitis10.2
27cystic teratoma10.2
28follicular thyroid carcinoma10.2
29kidney disease10.2
30mediastinitis10.2
31pancreatitis10.2
32pleural empyema10.2
33congenital lobar emphysema10.2
34fetal lung interstitial tumor10.2
35hematopoietic stem cell transplantation10.2
36bronchitis10.1
37hypercalcemia10.1
38small cell carcinoma10.1
39bronchogenic carcinoma10.1
40laryngitis10.1
41sarcoma10.1
42embryonal sarcoma10.1
43cerebral primitive neuroectodermal tumor10.1MYCN
44papilloma10.0MYCN, TP53
45glioblastoma multiforme10.0MYCN, TP53
46medulloblastoma10.0MYCN, TP53
47neuroblastoma10.0TP53, MYCN
48stomach cancer9.9TP53, SERPINA1, MYCN
49burkitt's lymphoma9.9MYCN, SERPINA1, TP53
50cervical cancer9.9MYCN, TP53

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



Diseases related to pleuropulmonary blastoma

Symptoms for Pleuropulmonary Blastoma

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47OMIM
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Symptoms by clinical synopsis from OMIM:

601200

Clinical features from OMIM:

601200

Drugs & Therapeutics for Pleuropulmonary Blastoma

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pleuropulmonary Blastoma

Search NIH Clinical Center for Pleuropulmonary Blastoma

Genetic Tests for Pleuropulmonary Blastoma

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20GeneTests, 22GTR
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Genetic tests related to Pleuropulmonary Blastoma:

id Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma20 22 DICER1

Anatomical Context for Pleuropulmonary Blastoma

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33MalaCards
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MalaCards organs/tissues related to Pleuropulmonary Blastoma:

33
Lung, Kidney, Fetal lung, Thyroid, Lymph node, Spinal cord

Animal Models for Pleuropulmonary Blastoma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8DICER1, MYCN, TP53
2MP:00053898.0TARBP2, DICER1, MYCN, TP53

Publications for Pleuropulmonary Blastoma

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52PubMed
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Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 126)
idTitleAuthorsYear
1
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. (24079261)
2014
2
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
3
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
4
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
5
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. (23613510)
2013
6
An unusual manifestation of a rare pleuropulmonary blastoma presenting with spinal cord compression and its neurosurgical implications. (23639617)
2013
7
Pleuropulmonary blastoma. (24003574)
2013
8
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
9
Pleuropulmonary blastoma: a single-institution experience. (22584785)
2012
10
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
2011
11
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
12
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
13
Pleuropulmonary blastoma with intrabronchial extension. (20127851)
2010
14
Familial pleuropulmonary blastoma in Australia. (20981696)
2010
15
A case report with type II pleuropulmonary blastoma: successful treatment with surgery and chemotherapy. (19378898)
2009
16
Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up. (19322126)
2009
17
Pleuropulmonary blastoma type I following resection of incidentally found congenital lobar emphysema. (19772009)
2009
18
A familial case of pleuropulmonary blastoma. (18493897)
2008
19
Pleuropulmonary blastoma in the area of a diagnosed congenital lung cyst. (18222294)
2008
20
Neonatal pleuropulmonary blastoma, type 1. (18165835)
2008
21
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
22
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
23
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
24
Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma. (16807914)
2007
25
Syndromic presentation of a pleuropulmonary blastoma associated with congenital cystic adenomatoid malformation. A case report. (17923214)
2007
26
An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. (16808637)
2006
27
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
28
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
29
Familial cystic nephroma in two siblings with pleuropulmonary blastoma. (15864358)
2005
30
Cerebral metastasis proven 1 year after an embolic cerebral infarct from pleuropulmonary blastoma. (14647995)
2004
31
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
32
Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology. (12923341)
2003
33
Pleuropulmonary blastoma with a large embolic cerebral infarct. (12712268)
2003
34
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
35
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
36
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
37
Pleuropulmonary blastoma. (11558020)
2001
38
Fine-needle aspiration cytology of pleuropulmonary blastoma: a case report with unusual features. (11747237)
2001
39
Pleuropulmonary blastoma: report of a case presenting with spontaneous pneumothorax. (11300091)
2001
40
Synchronous occurrence of pleuropulmonary blastoma and cystic nephroma: possible genetic link in cystic lesions of the lung and the kidney. (10881016)
2000
41
Pleuropulmonary blastoma: four cases. (11149404)
2000
42
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
43
Pleuropulmonary blastoma: long-term survival and literature review. (10491545)
1999
44
Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. (10442587)
1999
45
Fine-needle aspiration cytology of pleuropulmonary blastoma: case report and review of the literature. (9143827)
1997
46
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
1996
47
Pleuropulmonary blastoma with vascular invasion. (8553935)
1996
48
Pleuropulmonary blastoma (pulmonary blastoma of childhood): genetic link with other embryonal malignancies? (8063284)
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

Variations for Pleuropulmonary Blastoma

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Pleuropulmonary Blastoma:

64
id Symbol AA change Variation ID SNP ID
1DICER1p.Leu1583ArgVAR_063150

Clinvar genetic disease variations for Pleuropulmonary Blastoma:

1
id Gene Name Type Significance SNP ID Assembly Location
1DICER1NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg)single nucleotide variantPathogenicrs137852976GRCh37Chr 14, 95562509: 95562509
2DICER1NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter)single nucleotide variantPathogenicrs137852977GRCh37Chr 14, 95583961: 95583961
3DICER1NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter)single nucleotide variantPathogenicrs137852978GRCh37Chr 14, 95572535: 95572535
4DICER1NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter)single nucleotide variantPathogenicrs137852979GRCh37Chr 14, 95582912: 95582912

Expression for genes affiliated with Pleuropulmonary Blastoma

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 53QIAGEN, 5Cell Signaling Technology, 55Reactome
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Pathways related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6TARBP2, DICER1
29.5XPO5, DICER1
3
Show member pathways
9.0TARBP2, XPO5, DICER1

Compounds for genes affiliated with Pleuropulmonary Blastoma

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose459.5MYCN, SERPINA1
2hmba459.4MYCN, TP53
3hydroxyurea45 51 1111.3TP53, MYCN
4lactacystin459.3MYCN, TP53
5vincristine45 51 1111.2MYCN, TP53
6adriamycin459.1MYCN, TP53
7mg 13245 619.9MYCN, TP53
8paraffin458.9MYCN, SERPINA1, TP53
9oligonucleotide458.7TP53, SERPINA1, MYCN

GO Terms for genes affiliated with Pleuropulmonary Blastoma

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16Gene Ontology
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Cellular components related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

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

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1production of siRNA involved in RNA interferenceGO:0304229.8TARBP2, DICER1
2targeting of mRNA for destruction involved in RNA interferenceGO:0304239.8TARBP2, DICER1
3pre-miRNA processingGO:0310549.7DICER1, TARBP2
4branching morphogenesis of an epithelial tubeGO:0487549.7DICER1, MYCN
5lung developmentGO:0303249.5DICER1, MYCN
6negative regulation of reactive oxygen species metabolic processGO:20003789.3MYCN, TP53
7multicellular organism growthGO:0352649.3TP53, DICER1
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.8DICER1, MYCN, TP53
9gene expressionGO:0104678.7TARBP2, XPO5, DICER1

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

idNameGO IDScoreTop Affiliating Genes
1miRNA bindingGO:0351989.6TARBP2, DICER1
2double-stranded RNA bindingGO:0037259.5TARBP2, DICER1
3protease bindingGO:0020209.1SERPINA1, TP53
4protein bindingGO:0055156.9TP53, SERPINA1, MYCN, DICER1, XPO5, TARBP2

Products for genes affiliated with Pleuropulmonary Blastoma

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Sources for Pleuropulmonary Blastoma

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet