PPB
MCID: PLR004
MIFTS: 51

Pleuropulmonary Blastoma (PPB) malady

Respiratory diseases, Cancer diseases, Genetic diseases categories

Summaries for Pleuropulmonary Blastoma

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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

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

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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 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

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Sources:
46OMIM
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Clinical features from OMIM:

601200

Clinical synopsis from OMIM:

601200

Drugs & Therapeutics for Pleuropulmonary Blastoma

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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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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32MalaCards
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MalaCards organs/tissues related to Pleuropulmonary Blastoma:

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

Animal Models for Pleuropulmonary Blastoma or affiliated genes

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Publications for Pleuropulmonary Blastoma

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50PubMed
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Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 128)
idTitleAuthorsYear
1
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. (24079261)
2014
2
Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report. (24041875)
2014
3
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
4
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
5
Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. (21501861)
2011
6
Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma--a report from the International Pleuropulmonary Blastoma Registry. (21156700)
2011
7
Pleuropulmonary blastoma with cervical lymph node metastasis at presentation. (21378426)
2011
8
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
9
Familial pleuropulmonary blastoma in Australia. (20981696)
2010
10
Fetal lung interstitial tumor (FLIT): A proposed newly recognized lung tumor of infancy to be differentiated from cystic pleuropulmonary blastoma and other developmental pulmonary lesions. (21107081)
2010
11
Pleuropulmonary blastoma in an equine fetus. (20587694)
2010
12
A case report with type II pleuropulmonary blastoma: successful treatment with surgery and chemotherapy. (19378898)
2009
13
Pleuropulmonary blastoma in the area of a diagnosed congenital lung cyst. (18222294)
2008
14
Neonatal pleuropulmonary blastoma, type 1. (18165835)
2008
15
Pleuropulmonary blastoma. (18780898)
2008
16
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
17
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
18
Cerebral metastasis and other central nervous system complications of pleuropulmonary blastoma. (16807914)
2007
19
Imaging findings in a 3-year-old girl with type III pleuropulmonary blastoma. (18210767)
2007
20
Pleuropulmonary blastoma: transition from type I (cystic) to type III (solid). (17609812)
2007
21
Complete remission of an unrectable pleuropulmonary blastoma in an adult after radiation therapy. (17149007)
2006
22
Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: a report from the International Pleuropulmonary Blastoma Registry. (17137906)
2006
23
Type I pleuropulmonary blastoma: a report from the International Pleuropulmonary Blastoma Registry. (16983119)
2006
24
Pleuropulmonary blastoma in a 12-year-old boy presenting with pneumothorax. (17144604)
2006
25
Familial cystic nephroma in two siblings with pleuropulmonary blastoma. (15864358)
2005
26
USCAP Specialty Conference: case 1-type I pleuropulmonary blastoma. (15719205)
2005
27
Imaging findings in pleuropulmonary blastoma. (15657793)
2005
28
Cerebral metastasis proven 1 year after an embolic cerebral infarct from pleuropulmonary blastoma. (14647995)
2004
29
Pleuropulmonary blastoma in childhood. A malignant degeneration of pulmonary cysts. (15185105)
2004
30
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
31
Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology. (12923341)
2003
32
High-dose chemotherapy and autologous peripheral blood stem cell rescue in a patient with pleuropulmonary blastoma. (12544779)
2003
33
Molecular cytogenetic analysis of a pleuropulmonary blastoma. (12660036)
2003
34
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
35
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
36
Fine-needle aspiration cytology of pleuropulmonary blastoma: a case report with unusual features. (11747237)
2001
37
Pleuropulmonary blastoma: report of a case presenting with spontaneous pneumothorax. (11300091)
2001
38
Staged resection of bilateral pleuropulmonary blastoma in a two-month old girl. (11292922)
2001
39
Pleuropulmonary blastoma: four cases. (11149404)
2000
40
Pleuropulmonary blastoma type 1, specimen partially deroofed and photographed under water. (11493997)
2000
41
Pleuropulmonary blastoma: management and prognosis of 11 cases. (11002236)
2000
42
Pleuropulmonary blastoma: survival after intraocular recurrence. (10573587)
1999
43
Survival with combined modality therapy after intracerebral recurrence of pleuropulmonary blastoma. (9371392)
1998
44
Pleuropulmonary blastoma of the lung presenting as posterior mediastinal mass: a case report. (9267881)
1997
45
Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. (9210721)
1997
46
Pleuropulmonary blastoma and congenital cystic malformations. (8917252)
1996
47
Childhood pleuropulmonary blastoma: caution against nonoperative management of congenital lung cysts. (8632276)
1996
48
Pleuropulmonary blastoma simulating an empyema in a young child. (7769624)
1995
49
Familial cystic nephroma and pleuropulmonary blastoma. (8382107)
1993
50
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991

Genetic Variations for Pleuropulmonary Blastoma

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 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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51QIAGEN, 53Reactome
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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

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44Novoseek
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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

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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:0007859.2TP53, 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

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Sources for Pleuropulmonary Blastoma

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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