PPB
MCID: PLR004
MIFTS: 56

Pleuropulmonary Blastoma (PPB) malady

Genetic diseases, Rare diseases, Respiratory diseases, Cancer diseases categories
Download this MalaCard

Summaries for Pleuropulmonary Blastoma

About this section


Fully expand this MalaCard
Wikipedia:65 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

MalaCards based summary: Pleuropulmonary Blastoma, also known as pulmonary blastoma, is related to rhabdomyosarcoma and adenocarcinoma, and has symptoms including 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:46 601200

Aliases & Classifications for Pleuropulmonary Blastoma

About this section
Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pleuropulmonary Blastoma, Aliases & Descriptions:

Name: Pleuropulmonary Blastoma 8 9 42 20 22 46 10 48 62
Pulmonary Blastoma 42 62
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


Classifications:



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


External Ids:

Disease Ontology8 DOID:4769
OMIM46 601200
MeSH34 C537516
NCIt39 C5669
SNOMED-CT57 128763002
MESH via Orphanet35 C537516
ICD10 via Orphanet26 C34
UMLS via Orphanet63 C1266144

Related Diseases for Pleuropulmonary Blastoma

About this section

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
1rhabdomyosarcoma30.3MYCN, TP53
2adenocarcinoma29.9TP53, SERPINA1, MYCN
3melanoma29.7TP53, SERPINA1, MYCN
4blastoma11.3
5cystic nephroma10.7
6pulmonary blastoma10.7
7pneumothorax10.6
8dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.6
9classic pulmonary blastoma10.5
10medulloepithelioma10.5
11pleuropulmonary blastoma type 110.5
12cerebritis10.5
13thyroiditis10.5
14dicer1-related disorders10.5
15cerebral primitive neuroectodermal tumor10.4MYCN
16thyroid cancer10.4
17spontaneous pneumothorax10.4
18teratoma10.4
19pleuropulmonary blastoma type 210.4
20pleuropulmonary blastoma type 310.4
21epithelial predominant pulmonary blastoma10.3
22embryoma10.3
23spindle cell carcinoma10.3
24hematopoietic stem cell transplantation10.2
25polycystic kidney disease10.2
26neurofibromatosis10.2
27cervicitis10.2
28conjunctivitis10.2
29cystic teratoma10.2
30follicular thyroid carcinoma10.2
31kidney disease10.2
32mediastinitis10.2
33pancreatitis10.2
34pleural empyema10.2
35respiratory failure10.2
36congenital lobar emphysema10.2
37tumor predisposition syndrome10.2
38fetal lung interstitial tumor10.2
39bronchitis10.1
40hypercalcemia10.1
41small cell carcinoma10.1
42laryngitis10.1
43sarcoma10.1
44embryonal sarcoma10.1
45bronchogenic carcinoma10.1
46papilloma10.0TP53, MYCN
47glioblastoma multiforme10.0TP53, MYCN
48medulloblastoma9.9MYCN, TP53
49neuroblastoma9.9MYCN, TP53
50stomach cancer9.8MYCN, SERPINA1, TP53

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



Diseases related to pleuropulmonary blastoma

Symptoms for Pleuropulmonary Blastoma

About this section

Symptoms by clinical synopsis from OMIM:

601200

Clinical features from OMIM:

601200

HPO human phenotypes related to Pleuropulmonary Blastoma:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 familial predisposition HP:0001472
3 abnormality of metabolism/homeostasis HP:0001939
4 rhabdomyosarcoma HP:0002859
5 medulloblastoma HP:0002885
6 pleuropulmonary blastoma HP:0100528

Drugs & Therapeutics for Pleuropulmonary Blastoma

About this section

Drug clinical trials:

Search ClinicalTrials for Pleuropulmonary Blastoma

Search NIH Clinical Center for Pleuropulmonary Blastoma

Genetic Tests for Pleuropulmonary Blastoma

About this section

Genetic tests related to Pleuropulmonary Blastoma:

id Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma20 22 DICER1

Anatomical Context for Pleuropulmonary Blastoma

About this section

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

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

Animal Models for Pleuropulmonary Blastoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.8DICER1, MYCN, TP53
2MP:00053898.0TARBP2, DICER1, MYCN, TP53

Publications for Pleuropulmonary Blastoma

About this section

Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. (25251372)
2014
2
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. (24958022)
2014
3
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. (25118636)
2014
4
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. (24599167)
2014
5
Pleuropulmonary blastoma: A report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. (25209242)
2014
6
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. (24079261)
2014
7
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
8
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
9
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
10
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. (23613510)
2013
11
An unusual manifestation of a rare pleuropulmonary blastoma presenting with spinal cord compression and its neurosurgical implications. (23639617)
2013
12
Pleuropulmonary blastoma. (24003574)
2013
13
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
14
Pleuropulmonary blastoma: a single-institution experience. (22584785)
2012
15
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
2011
16
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
17
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
18
Pleuropulmonary blastoma with intrabronchial extension. (20127851)
2010
19
Familial pleuropulmonary blastoma in Australia. (20981696)
2010
20
A case report with type II pleuropulmonary blastoma: successful treatment with surgery and chemotherapy. (19378898)
2009
21
Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up. (19322126)
2009
22
Pleuropulmonary blastoma type I following resection of incidentally found congenital lobar emphysema. (19772009)
2009
23
A familial case of pleuropulmonary blastoma. (18493897)
2008
24
Pleuropulmonary blastoma in the area of a diagnosed congenital lung cyst. (18222294)
2008
25
Neonatal pleuropulmonary blastoma, type 1. (18165835)
2008
26
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
27
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
28
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
29
An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. (16808637)
2006
30
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
31
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
32
Familial cystic nephroma in two siblings with pleuropulmonary blastoma. (15864358)
2005
33
Cerebral metastasis proven 1 year after an embolic cerebral infarct from pleuropulmonary blastoma. (14647995)
2004
34
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
35
Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology. (12923341)
2003
36
Pleuropulmonary blastoma with a large embolic cerebral infarct. (12712268)
2003
37
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
38
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
39
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
40
Pleuropulmonary blastoma. (11558020)
2001
41
Synchronous occurrence of pleuropulmonary blastoma and cystic nephroma: possible genetic link in cystic lesions of the lung and the kidney. (10881016)
2000
42
Pleuropulmonary blastoma: four cases. (11149404)
2000
43
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
44
Pleuropulmonary blastoma: long-term survival and literature review. (10491545)
1999
45
Pleuropulmonary blastoma: a rare pathology with an even rarer presentation. (10442587)
1999
46
Fine-needle aspiration cytology of pleuropulmonary blastoma: case report and review of the literature. (9143827)
1997
47
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
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

About this section

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:

6
id Gene Name Type Significance SNP ID Assembly Location
1DICER1DICER1, SER1826TERsingle nucleotide variantPathogenic
2DICER1NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg)single nucleotide variantPathogenicrs137852976GRCh37Chr 14, 95562509: 95562509
3DICER1NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter)single nucleotide variantPathogenicrs137852977GRCh37Chr 14, 95583961: 95583961
4DICER1NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter)single nucleotide variantPathogenicrs137852978GRCh37Chr 14, 95572535: 95572535
5DICER1DICER1, 1-BP INS, 2574AinsertionPathogenic
6DICER1NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter)single nucleotide variantPathogenicrs137852979GRCh37Chr 14, 95582912: 95582912

Expression for genes affiliated with Pleuropulmonary Blastoma

About this section
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

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

About this section

Compounds related to Pleuropulmonary Blastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1agarose449.5MYCN, SERPINA1
2hmba449.4MYCN, TP53
3hydroxyurea44 50 1111.3TP53, MYCN
4lactacystin449.3MYCN, TP53
5vincristine44 50 1111.2MYCN, TP53
6adriamycin449.1MYCN, TP53
7mg 13244 619.9MYCN, TP53
8paraffin448.9MYCN, SERPINA1, TP53
9oligonucleotide448.7TP53, SERPINA1, MYCN

GO Terms for genes affiliated with Pleuropulmonary Blastoma

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet