MCID: PLR004
MIFTS: 61

Pleuropulmonary Blastoma malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cancer diseases

Aliases & Classifications for Pleuropulmonary Blastoma

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pleuropulmonary Blastoma:

Name: Pleuropulmonary Blastoma 49 10 11 45 22 12 51 67 36 24 65
Ppb 45 22 67
Ppb Familial Tumor and Dysplasia Syndrome 22 67
 
Pulmonary Blastoma 45 65
Ppbftds 22 67

Characteristics:

Orphanet epidemiological data:

51
pleuropulmonary blastoma:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

61
pleuropulmonary blastoma:
Inheritance: familial predisposition, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 601200
Disease Ontology10 DOID:4769
NCIt42 C5669
Orphanet51 64742
ICD10 via Orphanet28 C34.3, C34.9, C34.1 C34.2, more
MESH via Orphanet37 C537516
UMLS via Orphanet66 C1266144
MedGen34 C1266144
UMLS65 C1266144

Summaries for Pleuropulmonary Blastoma

About this section
OMIM:49 Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is... (601200) more...

MalaCards based summary: Pleuropulmonary Blastoma, also known as ppb, is related to rhabdomyosarcoma and dicer1-related pleuropulmonary blastoma cancer predisposition syndrome, and has symptoms including pleuropulmonary blastoma, medulloblastoma and rhabdomyosarcoma. An important gene associated with Pleuropulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways are Central carbon metabolism in cancer and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include lung, kidney and fetal lung, and related mouse phenotypes are tumorigenesis and liver/biliary system.

Disease Ontology:10 A pulmonary blastoma that derives from the lung or pleural cavity.

UniProtKB/Swiss-Prot:67 Pleuropulmonary blastoma: A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor.

Wikipedia:68 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

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 Suite gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1rhabdomyosarcoma30.0DICER1, IGF2
2dicer1-related pleuropulmonary blastoma cancer predisposition syndrome12.4
3pleuropulmonary blastoma type 112.3
4pleuropulmonary blastoma type 212.2
5pleuropulmonary blastoma type 312.2
6dicer1-related disorders11.5
7blastoma11.1
8cystic nephroma10.4
9pneumothorax10.4
10cerebellar medulloblastoma10.4DICER1, TP53
11medulloepithelioma10.3
12pulmonary blastoma10.3
13fallopian tube serous papilloma10.3FGF10, TP53
14cerebritis10.2
15thyroiditis10.2
16poland syndrome10.2FGF10, FGFR2
17diverticulitis of colon10.2FGF10, FGFR2
18duodenal ulcer10.2FGF10, FGFR2
19antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGF10, FGFR2
20tumor predisposition syndrome10.1
21thyroid cancer10.1
22teratoma10.1
23congenital pulmonary airway malformation10.1
24autosomal dominant complex spastic paraplegia type 9a10.1SHH, TP53
25cervical incompetence10.1SHH, TP53
26estrogen-receptor negative breast cancer10.1FGFR2, TP53
27thanatophoric dysplasia, type ii10.1FGF10, FGFR2
28cervicomedullary junction neoplasm10.1SHH, TP53
29bronchogenic lung adenocarcinoma10.1FGFR2, TP53
30connective tissue benign neoplasm10.1SHH, TP53
31glaucoma, primary open angle, juvenile-onset, 210.0FGFR2, SHH
32hematopoietic stem cell transplantation10.0
33respiratory failure10.0
34stiff-person syndrome10.0
35cervicitis10.0
36cystic teratoma10.0
37embryonal rhabdomyosarcoma10.0
38pleural empyema10.0
39pancreatitis10.0
40kidney disease10.0
41conjunctivitis10.0
42mediastinitis10.0
43lung disease10.0
44neurofibromatosis10.0
45polycystic kidney disease10.0
46congenital lobar emphysema10.0
47intraocular medulloepithelioma10.0
48fetal lung interstitial tumor10.0
49syphilis10.0IGF2, TP53
50prion disease10.0IGF2, 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:

id Description Frequency HPO Source Accession
1 pleuropulmonary blastoma HP:0100528
2 medulloblastoma HP:0002885
3 rhabdomyosarcoma HP:0002859
4 abnormality of metabolism/homeostasis HP:0001939

UMLS symptoms related to Pleuropulmonary Blastoma:


respiratory distress, coughing, chest pain, hemoptysis, dyspnea

Drugs & Therapeutics for Pleuropulmonary Blastoma

About this section

Drugs for Pleuropulmonary Blastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Trastuzumabapproved, investigationalPhase 2726180288-69-19903
Synonyms:
180288-69-1
Anti HER2
Anti-erbB2 Monoclonal Antibody
D03257
HER2 Monoclonal Antibody
Herceptin
 
Herceptin (TN)
Ig gamma-1 chain C region
Trastuzumab
Trastuzumab (INN)
Trastuzumab (genetical recombination)
Trastuzumab (genetical recombination) (JAN)
trastuzumab
2
ado-trastuzumab emtansineapprovedPhase 2621018448-65-1
Synonyms:
Kadcyla
 
Trastuzumab-DM1
trastuzumab emtansine
trastuzumab-MCC-DM1
3ImmunoglobulinsPhase 24477
4Tubulin ModulatorsPhase 24279
5MaytansinePhase 251
6AntibodiesPhase 24477
7Antineoplastic Agents, PhytogenicPhase 24294
8Antibodies, MonoclonalPhase 22413
9Antimitotic AgentsPhase 24296
10
Cyclophosphamideapproved, investigational264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11
Dactinomycinapproved4650-76-02019, 457193
Synonyms:
(- )-actinomycin d
(-)-actinomycin d
-pentone
01815_FLUKA
1H-Pyrrolo(2,1-1)-(1,4,7,10,13)oxatetraazacyclohexadecine
2-amino-N,N'-bis(hexadecahydro-2,5,9-trimethyl-6,13-bis(1-methylethyl)-1,4,7,11,14-pentaoxo-1H-pyrrolo(2,1-I)(1,4,7,10,13)oxatetra-azacyclohexadecin-10-yl)-4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide
4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide
50-76-0
A1410_SIGMA
A4262_SIGMA
A9415_SIGMA
AC1L1CQX
AC1L9W52
ACT
ACT D
ACTINOMYCIN D
ACTINOMYCIN D AMP
ACTINOMYCIN-D
ACTO-D
ACon0_000471
ACon1_001004
AD
AD (VAN)
AI3-26374
ActD
Actactinomycin A IV
Actactinomycin a Iv
Actinomycin 11 Cosmegen
Actinomycin 11 cosmegen
Actinomycin 7
Actinomycin A IV
Actinomycin Aiv
Actinomycin C (sub1)
Actinomycin C(sub1)
Actinomycin C1
Actinomycin D
Actinomycin D (JP15)
Actinomycin D deriv. of 3H-phenoxaocardazine
Actinomycin D, sodium deoxyribonucleic acid complex
Actinomycin I
Actinomycin I (sub1)
Actinomycin I(sub 1)
Actinomycin I(sub1)
Actinomycin I1
Actinomycin IV
Actinomycin Iv
Actinomycin X 1
Actinomycin X1
Actinomycin iv
Actinomycin-(threo-val-pro-sar-meval)
Actinomycin-?IV
Actinomycin-[threo-val-pro-sar-meval]
Actinomycindioic D Acid, Dilactone
Actinomycindioic D acid, dilactone
Acto-D
Antibiotic From Streptomyces Parvullus
Antibiotic from Streptomyces parvullus
BCBcMAP01_000155
BRD-A42383464-001-02-2
Bio1_000342
Bio1_000831
Bio1_001320
C06770
C1
C62H86N12O16
CBiol_002056
CCRIS 9
CHEBI:123721
CHEBI:27666
CHEMBL1554
CHEMBL427947
CID2019
 
CID457193
COSMEGEN (TN)
CPD000469227
Chounghwamycin B
Cosmegen
D Actinomycin
D00214
DACTINOMYCIN
DB00970
DVA-DPR-SAR-MVA-(c1)DTH-PXZ-(c11)DTH-DVA-DPR-SAR-MVA
Dactinomicina
Dactinomicina [INN-Spanish]
Dactinomycin
Dactinomycin (USP)
Dactinomycin D
Dactinomycin [USAN:BAN]
Dactinomycine
Dactinomycine [INN-French]
Dactinomycinum
Dactinomycinum [INN-Latin]
Dilactone Actinomycin D Acid
Dilactone Actinomycindioic D Acid
Dilactone actin omycindioic D acid
Dilactone actinomycin D acid
Dilactone actinomycindioic D acid
EINECS 200-063-6
FT-0080366
GNF-PF-1977
HBF 386
HBF 386 Meractinomycin
HBF 386 meractinomycin
HMS2052O17
HSDB 3220
LMPK14000005
LS-142
Lyovac Cosmegen
Lyovac cosmegen
MEGxm0_000350
MLS001424196
Meractinomycin
MolPort-001-739-741
MolPort-003-925-177
NCGC00025059-02
NCGC00090796-01
NCGC00161622-01
NCGC00161622-02
NCGC00169767-01
NCI-C04682
NCI60_030539
NP-005932
NSC 3053
NSC-3053
NSC191297
NSC3053
Neuro_000003
Oncostatin K
Oxamide
PXZ-THR-DVA-PRO-SAR-MVA-THR-DVA-PRO-SAR-MVA
SAM001246846
SMP1_000005
SMR000469227
UNII-1CC1JFE158
UPCMLD-DP055
UPCMLD-DP055:001
UPCMLD-DP055:002
WLN: 16- AN FVN IVN LVO PVM SVTJ G1 J1 KY1&1 N1 RY1&1
X 97
actd
actinomycin D
actinomycin cl
actinomycin x i
actinomyein-theo-val-pro-sar-meval
dactinomyein d
o)-(1-oxo-1,2-ethanediyl)]bis(N-methyl)L-valine
12
Doxorubicinapproved, investigational158223214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5
13
Ifosfamideapproved3713778-73-23690
Synonyms:
(+-)-Ifosfamid
(+-)-Ifosphamide
(+-)-Tetrahydro-N,3-bis(2-chloroethyl)-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
(D,L)-Ifosfamide
(R,S)-Ifosphamide
(R,S)-N,3-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
1,3,2-Oxazaphosphorine, 3-(2-chloroethyl)-2-((2-chloroethyl)amino)tetrahydro-, 2-oxide
1,3,2-Oxazaphosphorine, 3-(2-chloroethyl)-2-[(2-chloroethyl)amino]tetrahydro-, 2-oxide
2,3-(N,N(sup 1)-Bis(2-chloroethyl)diamido)-1,3,2-oxazaphosphoridinoxyd
2,3-N,N(sup 1)-Bis(2-chloroethyl)diamido-1,3,2-oxazaphosphoridinoxyd
2H-1,3,2-Oxazaphosphorin-2-amine, N,3-bis( 2-chloroethyl)tetrahydro-, 2-oxide
2H-1,3,2-Oxazaphosphorin-2-amine, N,3-bis(2-chloroethyl)tetrahydro-, 2-oxide
2H-1,3,2-Oxazaphosphorine, 3-(2-chloroethyl)-2-((2-chloroethyl)amino)tetrahydro-, 2-oxide
2H-1,3,2-Oxazaphosphorine, 3-(2-chloroethyl)-2-((2-chloroethyl)amino)tetrahydro-, 2-oxide (8CI)
2H-1,3,2-Oxazaphosphorine, 3-(2-chloroethyl)-2-[(2-chloroethyl)amino]tetrahydro-, 2-oxide
3,} 2-oxazaphosphorine oxide
3-(2-Chloroethyl)-2-((2-chloroethyl)amino)perhydro-2H-1,3,2-oxazaphosphorine oxide
3-(2-Chloroethyl)-2-((2-chloroethyl)amino)tetrahydro-2H-1,3,2-oxazaphosphorine 2-oxide
3-(2-Chloroethyl)-2-[(2-chloroethyl)amino]perhydro-2H-1,3,2-oxazaphosphorine oxide
3-(2-Chloroethyl)-2-[(2-chloroethyl)amino]perhydro-2H-1,3,2-oxazaphosphorineoxide
3-(2-Chloroethyl)-2-[(2-chloroethyl)amino]tetrahydro-2H-1,3,2-oxazaphosphorine 2- oxide
3-(2-Chloroethyl)-2-[(2-chloroethyl)amino]tetrahydro-2H-1,3,2-oxazaphosphorine 2-oxide
36341-88-5
3778-73-2
84711-20-6
A 4942
AB00513932
AC-2113
AC1L1GHW
ASTA Z 4942
Ambap3778-73-2
Asta Z 4942
BPBio1_000865
BRN 0611835
BSPBio_000785
C07047
CAS-3778-73-2
CCRIS 352
CHEBI:5864
CHEMBL1024
CID3690
Cyfos
D00343
D007069
DB01181
EINECS 223-237-3
HMS1570H07
HMS2090M12
HMS2093N07
HSDB 7023
Holoxan
Holoxan 1000
I-Phosphamide
I06-0494
IFEX (TN)
Ifex
Ifosfamid
Ifosfamida
Ifosfamida [INN-Spanish]
Ifosfamide
 
Ifosfamide (JAN/USP/INN)
Ifosfamide Sterile
Ifosfamide [USAN:INN:BAN:JAN]
Ifosfamidum
Ifosfamidum [INN-Latin]
Ifosphamide
Ifsofamide
Iphosphamid
Iphosphamid(e)
Iphosphamide
Iso Endoxan
Iso-Endoxan
Isoendoxan
Isofosfamide
Isophosphamide
Isosfamide
LS-102
LS-99799
MJF 9325
MJF-9325
MLS002154021
Mitoxana
Mitoxana, Ifex, Ifosfamide
MolPort-003-666-704
N,3-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,3-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
N,N-Bis(beta-chloroethyl)-amino-N',O-propylene-phosphoric acid ester diamide
N-(2-Chloraethyl)-N'-(2-chloraethyl)-N',O-propylen-phosphorsaureester-diamid
N-(2-Chloraethyl)-N'-(2-chloraethyl)-N',O-propylen-phosphorsaureester-diamid [German]
N-(2-Chloroethyl)-N'-(2-chloroethyl)-N',O-propylen ephosphoric acid diamide
N-(2-Chloroethyl)-N'-(2-chloroethyl)-N',O-propylene phosphoric acid ester diamide
N-(2-Chloroethyl)-N'-(2-chloroethyl)-N',O-propylenephosphoric acid diamide
N-(2-Chloroethyl)-N'-(2-chloroethyl)-N',O-propylenephosphoric acid ester diamide
N-(2-Chloroethyl)-N-(3-(2-chloroethyl)-2-oxido-1,3,2-oxazaphosphinan-2-yl)amine
NCGC00016639-01
NCGC00179435-01
NCI-C01638
NCI60_000233
NPFAPI-04
NSC 109,724
NSC 109724
NSC-109,724
NSC-109724
NSC109,724
NSC109724
Naxamide
Prestwick0_000833
Prestwick1_000833
Prestwick2_000833
Prestwick3_000833
S1302_Selleck
SMR001233348
SPBio_002706
STL058690
UNII-UM20QQM95Y
WLN: T6NPOTJ AM2G BO B2G
Z 4942
Z-4942
Z4942
ifosfamide
isosfamide
{3-(2-Chloroethyl)-2-[(2-chloroethyl)amino]perhydro-2H-1,
14
Vincristineapproved, investigational8632068-78-2, 57-22-75978
Synonyms:
22-Oxovincaleukoblastin
22-Oxovincaleukoblastine
28379-27-3
57-22-7
AC1L1LJC
C07204
C46H56N4O10
CCRIS 5763
CHEBI:28445
CID5978
D08679
DB00541
EINECS 200-318-1
HMS2090E19
HSDB 3199
Indole alkaloid
LCR
LS-228
Leurocristine
Lilly 37231 (1:1 sulfate salt)
Liposomal Vincristine
Marqibo
NCGC00163700-01
NCI-C04864
NCI60_026703
NSC-67574
Onco TCS
 
Oncovin
Oncovin (1:1 sulfate salt)
Oncovine
Tecnocris
Tecnocris (TN)
UNII-5J49Q6B70F
VCR
VIN
Vincaleukoblastine, 22-oxo- 22-Oxovincaleukoblastine
Vincasar
Vincasar (1:1 sulfate salt)
Vincasar PFS
Vincrex
Vincrex (1:1 sulfate salt)
Vincristin
Vincristina
Vincristina [DCIT]
Vincristine (INN)
Vincristine Sulfate
Vincristine Sulfate PFS
Vincristine [INN:BAN]
Vincristinum
Vincristinum [INN-Latin]
Vincrstine
Vincrystine
Vinkristin
Z-D-Val-Lys(Z)-OH
vincristine
15
DoxilApproved June 1999158231703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
16Topoisomerase Inhibitors4081
17Immunologic Factors18483
18Nucleic Acid Synthesis Inhibitors3836
19Isophosphamide mustard371
20Immunosuppressive Agents10422
21Anti-Infective Agents17220
22Alkylating Agents3582
23Anti-Bacterial Agents9140
24Antibiotics, Antitubercular5971
25Antineoplastic Agents, Alkylating3406
26Antirheumatic Agents8496

Interventional clinical trials:

idNameStatusNCT IDPhase
1Lorvotuzumab Mertansine in Treating Younger Patients With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor, or Synovial SarcomaRecruitingNCT02452554Phase 2
2Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer SyndromeRecruitingNCT00565903
3International Pleuropulmonary Blastoma (PPB) Treatment and Biology RegistryRecruitingNCT01464606
4DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History StudyRecruitingNCT01247597
5International Ovarian & Testicular Stromal Tumor RegistryRecruitingNCT01970696
6Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing CancerActive, not recruitingNCT01353300

Search NIH Clinical Center for Pleuropulmonary Blastoma


Cochrane evidence based reviews: pleuropulmonary blastoma

Genetic Tests for Pleuropulmonary Blastoma

About this section

Genetic tests related to Pleuropulmonary Blastoma:

id Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma22 DICER1

Anatomical Context for Pleuropulmonary Blastoma

About this section

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

33
Lung, Kidney, Fetal lung, Breast, T cells, Pituitary, Heart

Animal Models for Pleuropulmonary Blastoma or affiliated genes

About this section

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

38 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9DICER1, FGFR2, SHH, TP53
2MP:00053708.7DICER1, FGFR2, IGF2, TP53
3MP:00028738.4DICER1, FGF10, FGFR2, SHH, TP53
4MP:00053778.4FGF10, FGFR2, SHH, TP53
5MP:00030128.0DICER1, FGFR2, IGF2, SHH, TP53
6MP:00053817.9FGF10, FGFR2, IGF2, SHH, TP53
7MP:00053697.8FGF10, FGFR2, IGF2, SHH, TP53
8MP:00053807.6DICER1, FGF10, FGFR2, IGF2, SHH, TP53
9MP:00053797.6DICER1, FGF10, FGFR2, IGF2, SHH, TP53
10MP:00107717.6DICER1, FGF10, FGFR2, IGF2, SHH, TP53
11MP:00053717.6DICER1, FGF10, FGFR2, IGF2, SHH, TP53
12MP:00053897.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
13MP:00053887.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
14MP:00053917.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
15MP:00053867.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
16MP:00036317.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
17MP:00053677.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
18MP:00053847.5DICER1, FGF10, FGFR2, IGF2, SHH, TP53
19MP:00053767.4DICER1, FGF10, FGFR2, IGF2, SHH, TP53
20MP:00053827.3DICER1, FGF10, FGFR2, IGF2, SHH, TP53
21MP:00107687.3DICER1, FGF10, FGFR2, IGF2, SHH, TP53
22MP:00053787.3DICER1, FGF10, FGFR2, IGF2, SHH, TP53
23MP:00053857.2DICER1, FGF10, FGFR2, IGF2, SHH, TP53
24MP:00053907.1DICER1, FGF10, FGFR2, IGF2, SHH, TP53
25MP:00053877.0DICER1, FGF10, FGFR2, IGF2, SHH, TP53
26MP:00053976.8DICER1, FGF10, FGFR2, IGF2, SHH, TP53

Publications for Pleuropulmonary Blastoma

About this section

Articles related to Pleuropulmonary Blastoma:

(show top 50)    (show all 158)
idTitleAuthorsYear
1
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. (26698637)
2015
2
Infant pleuropulmonary blastoma: report of a rare case and review of literature. (26722577)
2015
3
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. (25983419)
2015
4
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. (26056800)
2015
5
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. (26227654)
2015
6
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. (26454454)
2015
7
Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. (25251372)
2014
8
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. (24958022)
2014
9
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. (25118636)
2014
10
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. (24599167)
2014
11
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
12
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
13
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
14
Ciliary body medulloepithelioma associated with pleuropulmonary blastoma. (23613510)
2013
15
An unusual manifestation of a rare pleuropulmonary blastoma presenting with spinal cord compression and its neurosurgical implications. (23639617)
2013
16
Pleuropulmonary blastoma. (24003574)
2013
17
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
18
Pleuropulmonary blastoma: a single-institution experience. (22584785)
2012
19
Pleuropulmonary blastoma in a child with autosomal-recessive polycystic kidney disease. (21720858)
2011
20
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
21
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
22
Pleuropulmonary blastoma with intrabronchial extension. (20127851)
2010
23
A case report with type II pleuropulmonary blastoma: successful treatment with surgery and chemotherapy. (19378898)
2009
24
Left pneumonectomy and expandable prosthesis placement for pleuropulmonary blastoma in a infant: one year follow-up. (19322126)
2009
25
A familial case of pleuropulmonary blastoma. (18493897)
2008
26
Pleuropulmonary blastoma in the area of a diagnosed congenital lung cyst. (18222294)
2008
27
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
28
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
29
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
30
An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association. (16808637)
2006
31
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
32
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
33
Familial cystic nephroma in two siblings with pleuropulmonary blastoma. (15864358)
2005
34
Cerebral metastasis proven 1 year after an embolic cerebral infarct from pleuropulmonary blastoma. (14647995)
2004
35
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
36
Pleuropulmonary blastoma in a young adult presenting as a ruptured cystic teratoma in radiology. (12923341)
2003
37
Pleuropulmonary blastoma with a large embolic cerebral infarct. (12712268)
2003
38
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
39
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
40
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
41
Pleuropulmonary blastoma. (11558020)
2001
42
Synchronous occurrence of pleuropulmonary blastoma and cystic nephroma: possible genetic link in cystic lesions of the lung and the kidney. (10881016)
2000
43
Pleuropulmonary blastoma: four cases. (11149404)
2000
44
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
45
Pleuropulmonary blastoma: long-term survival and literature review. (10491545)
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:

67
id Symbol AA change Variation ID SNP ID
1DICER1p.Leu1583ArgVAR_063150

Clinvar genetic disease variations for Pleuropulmonary Blastoma:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DICER1NM_177438.2(DICER1): c.489C> Gsingle nucleotide variantPathogenicrs864622626GRCh37Chr 14, 95596479: 95596479
2DICER1NM_177438.2(DICER1): c.559C> Tsingle nucleotide variantPathogenicrs763801533GRCh38Chr 14, 95130072: 95130072
3DICER1DICER1, SER1826TERsingle nucleotide variantPathogenic

Expression for genes affiliated with Pleuropulmonary Blastoma

About this section
Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for genes affiliated with Pleuropulmonary Blastoma

About this section

GO Terms for genes affiliated with Pleuropulmonary Blastoma

About this section

Biological processes related to Pleuropulmonary Blastoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idNameGO IDScoreTop Affiliating Genes
1mesenchymal cell differentiation involved in lung developmentGO:006091510.2FGF10, FGFR2
2mammary gland bud formationGO:006061510.2FGF10, FGFR2
3fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.2FGF10, FGFR2
4lacrimal gland developmentGO:003280810.2FGF10, FGFR2
5organ growthGO:003526510.1FGF10, FGFR2
6epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.1FGF10, SHH
7bud outgrowth involved in lung branchingGO:006044710.1FGF10, SHH
8digestive tract developmentGO:004856510.1FGF10, FGFR2
9regulation of phosphatidylinositol 3-kinase signalingGO:001406610.1FGF10, FGFR2
10phosphatidylinositol-mediated signalingGO:004801510.1FGF10, FGFR2
11phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.1FGF10, FGFR2
12otic vesicle formationGO:003091610.0FGF10, FGFR2
13prostate epithelial cord elongationGO:006052310.0FGFR2, SHH
14lung epithelium developmentGO:006042810.0FGF10, SHH
15positive regulation of MAPK cascadeGO:004341010.0FGF10, FGFR2
16branching involved in prostate gland morphogenesisGO:006044210.0FGFR2, SHH
17hair follicle morphogenesisGO:003106910.0FGF10, SHH
18limb developmentGO:006017310.0FGF10, SHH
19lung alveolus developmentGO:004828610.0FGF10, FGFR2
20lung-associated mesenchyme developmentGO:006048410.0FGFR2, SHH
21negative regulation of cell differentiationGO:004559610.0FGF10, SHH
22thyroid gland developmentGO:00308789.9FGF10, SHH
23embryonic organ developmentGO:00485689.9FGFR2, SHH
24thymus developmentGO:00485389.9FGF10, SHH
25positive regulation of cell divisionGO:00517819.9FGFR2, SHH
26determination of left/right symmetryGO:00073689.9FGF10, SHH
27positive regulation of ERK1 and ERK2 cascadeGO:00703749.9FGF10, FGFR2
28metanephros developmentGO:00016569.8FGF10, SHH
29odontogenesisGO:00424769.8FGFR2, SHH
30branching morphogenesis of an epithelial tubeGO:00487549.8FGF10, SHH
31cell fate commitmentGO:00451659.8FGFR2, SHH
32wound healingGO:00420609.8FGF10, IGF2
33odontogenesis of dentin-containing toothGO:00424759.8FGF10, SHH
34epithelial cell differentiationGO:00308559.5FGF10, FGFR2
35embryonic digestive tract morphogenesisGO:00485579.5FGF10, FGFR2, SHH
36limb bud formationGO:00601749.4FGF10, FGFR2, SHH
37positive regulation of Wnt signaling pathwayGO:00301779.4FGF10, FGFR2, SHH
38positive regulation of transcription, DNA-templatedGO:00458939.3FGF10, SHH, TP53
39embryonic pattern specificationGO:00098809.3FGF10, FGFR2, SHH
40response to estradiolGO:00323559.3FGF10, IGF2
41branching involved in salivary gland morphogenesisGO:00604459.3FGF10, FGFR2, SHH
42positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.2FGF10, IGF2, TP53
43negative regulation of transcription from RNA polymerase II promoterGO:00001229.1DICER1, FGFR2, SHH
44cell-cell signalingGO:00072679.1FGF10, FGFR2, SHH
45axon guidanceGO:00074119.0FGF10, FGFR2, SHH
46lung developmentGO:00303248.9FGF10, FGFR2, SHH
47insulin receptor signaling pathwayGO:00082868.9FGF10, FGFR2, IGF2
48angiogenesisGO:00015258.8FGF10, FGFR2, SHH
49positive regulation of cell proliferationGO:00082848.8FGF10, IGF2, SHH
50positive regulation of transcription from RNA polymerase II promoterGO:00459448.1FGF10, FGFR2, SHH, TP53

Sources for Pleuropulmonary Blastoma

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet