MCID: PLR004
MIFTS: 59

Pleuropulmonary Blastoma

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

Aliases & Classifications for Pleuropulmonary Blastoma

MalaCards integrated aliases for Pleuropulmonary Blastoma:

Name: Pleuropulmonary Blastoma 57 12 53 59 75 29 13 6 44 15 73
Ppbftds 57 59 75
Ppb 57 53 75
Ppb Familial Tumor and Dysplasia Syndrome 57 75
Respiratory Tract Neoplasms 44 73
Pulmonary Blastoma 53 73
Dicer1 Syndrome 59 73
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome 59
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome 59
Ppb Familial Tumor and Dysplasia Syndrome; Ppbftds 57
Ppb Familial Tumor Susceptibility Syndrome 59
Blastoma, Pleuropulmonary 40

Characteristics:

Orphanet epidemiological data:

59
pleuropulmonary blastoma
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;
pleuropulmonary blastoma familial tumor susceptibility syndrome
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
decreased penetrance
onset before age 5 years


HPO:

32
pleuropulmonary blastoma:
Inheritance familial predisposition autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 601200
Disease Ontology 12 DOID:4769
NCIt 50 C5669
SNOMED-CT 68 128763002 707670009
ICD10 via Orphanet 34 C34.3 C34.9 C34.2 more
MESH via Orphanet 45 C537516
UMLS via Orphanet 74 C1266144
MedGen 42 C1266144

Summaries for Pleuropulmonary Blastoma

OMIM : 57 Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs 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 'cambium' 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 (Priest et al., 1996). In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010). Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011). (601200)

MalaCards based summary : Pleuropulmonary Blastoma, also known as ppbftds, is related to pulmonary blastoma and papilloma of choroid plexus, and has symptoms including dyspnea, coughing and fever. An important gene associated with Pleuropulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are Glioma and MAPK signaling pathway. The drugs Adenosine and Trastuzumab have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and fetal lung, and related phenotypes are abnormality of metabolism/homeostasis and neoplasm

Disease Ontology : 12 A pulmonary blastoma that derives from the lung or pleural cavity.

UniProtKB/Swiss-Prot : 75 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 : 76 Pleuropulmonary blastoma (PPB) is a rare cancer originating in the lung or pleural cavity. It occurs... more...

Related Diseases for Pleuropulmonary Blastoma

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 96)
# Related Disease Score Top Affiliating Genes
1 pulmonary blastoma 33.5 DICER1 TP53
2 papilloma of choroid plexus 30.4 S100B TP53
3 atypical teratoid rhabdoid tumor 30.2 S100B TP53
4 embryonal rhabdomyosarcoma 30.0 DICER1 MB
5 rhabdomyosarcoma 29.9 DICER1 MB TP53
6 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.6
7 pleuropulmonary blastoma type 1 12.3
8 pleuropulmonary blastoma type 2 12.1
9 pleuropulmonary blastoma type 3 12.1
10 dicer1-related disorders 11.7
11 central nervous system primitive neuroectodermal neoplasm 10.5 DICER1 TP53
12 type i 10.5
13 cystic nephroma 10.4
14 malignant giant cell tumor 10.4 S100B TP53
15 pneumothorax 10.4
16 chordoid glioma 10.3 S100B TP53
17 spiradenoma 10.3 S100B TP53
18 microglandular adenosis 10.3 S100B TP53
19 cystic adenomatoid malformation of lung 10.3
20 embryonal sarcoma 10.3 S100B TP53
21 cerebral primitive neuroectodermal tumor 10.3 S100B TP53
22 hidradenocarcinoma 10.3 S100B TP53
23 medulloepithelioma 10.3
24 optic nerve glioma 10.3 S100B TP53
25 meninges sarcoma 10.3 MB TP53
26 sarcomatoid squamous cell skin carcinoma 10.2 MB TP53
27 cellular schwannoma 10.2 S100B TP53
28 sclerosing liposarcoma 10.2 MB TP53
29 ganglioglioma 10.2 S100B TP53
30 adenosarcoma 10.2 MB TP53
31 mixed cell type cancer 10.2 MB TP53
32 mesenteric vascular occlusion 10.2 FGF10 MB
33 apert syndrome 10.2 FGF10 FGF9
34 myxosarcoma 10.2 MB TP53
35 medullomyoblastoma 10.2 MB TP53
36 tumor predisposition syndrome 10.2
37 immunoglobulin alpha deficiency 10.2
38 cerebritis 10.2
39 thyroiditis 10.2
40 malignant mesenchymoma 10.2 MB TP53
41 lacrimoauriculodentodigital syndrome 10.1 FGF10 FGF9
42 osteochondroma 10.1 FGF9 S100B
43 malignant triton tumor 10.1 MB S100B
44 dermatofibrosarcoma protuberans 10.1 S100B TP53
45 muenke syndrome 10.1 FGF10 FGF9
46 muscle cancer 10.1 MB TP53
47 spindle cell rhabdomyosarcoma 10.1 MB S100B
48 inflammatory myofibroblastic tumor 10.1 S100B TP53
49 pneumothorax, primary spontaneous 10.1
50 stroke, ischemic 10.1

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



Diseases related to Pleuropulmonary Blastoma

Symptoms & Phenotypes for Pleuropulmonary Blastoma

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
rhabdomyosarcoma
medulloblastoma
associated with other malignancies

Genitourinary Kidneys:
cystic nephroma

Respiratory Lung:
pleuropulmonary blastoma
lung cysts
lung tumor with mesenchymal components

Endocrine Features:
goiter may occur


Clinical features from OMIM:

601200

Human phenotypes related to Pleuropulmonary Blastoma:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 neoplasm 32 HP:0002664
3 rhabdomyosarcoma 32 HP:0002859
4 medulloblastoma 32 HP:0002885
5 pleuropulmonary blastoma 32 HP:0100528

UMLS symptoms related to Pleuropulmonary Blastoma:


dyspnea, coughing, fever, hemoptysis, chest pain, respiratory distress

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.05 DICER1 FGF10 FGF9 S100B SHH TP53
2 cardiovascular system MP:0005385 10.04 DICER1 FGF10 FGF9 MB SHH TP53
3 cellular MP:0005384 10.03 SHH TP53 DICER1 FGF10 FGF9 MB
4 homeostasis/metabolism MP:0005376 10.02 S100B SHH TP53 DICER1 FGF10 FGF9
5 embryo MP:0005380 10.01 MB SHH TP53 DICER1 FGF10 FGF9
6 growth/size/body region MP:0005378 9.99 DICER1 FGF10 FGF9 MB SHH TP53
7 craniofacial MP:0005382 9.95 DICER1 FGF10 FGF9 SHH TP53
8 integument MP:0010771 9.93 DICER1 FGF10 FGF9 S100B SHH TP53
9 endocrine/exocrine gland MP:0005379 9.92 DICER1 FGF10 FGF9 SHH TP53
10 muscle MP:0005369 9.88 DICER1 FGF10 FGF9 MB SHH TP53
11 normal MP:0002873 9.85 DICER1 FGF10 FGF9 S100B SHH TP53
12 limbs/digits/tail MP:0005371 9.83 DICER1 FGF10 FGF9 SHH TP53
13 hearing/vestibular/ear MP:0005377 9.8 FGF10 FGF9 SHH TP53
14 reproductive system MP:0005389 9.65 DICER1 FGF10 FGF9 SHH TP53
15 respiratory system MP:0005388 9.63 DICER1 FGF10 FGF9 MB SHH TP53
16 renal/urinary system MP:0005367 9.62 DICER1 FGF10 SHH TP53
17 skeleton MP:0005390 9.35 DICER1 FGF10 FGF9 SHH TP53
18 vision/eye MP:0005391 9.02 DICER1 FGF10 FGF9 SHH TP53

Drugs & Therapeutics for Pleuropulmonary Blastoma

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adenosine Approved, Investigational Phase 2 58-61-7 60961
2
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
3 Antimitotic Agents Phase 2,Not Applicable
4 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
5 Ado-trastuzumab emtansine Phase 2
6 Antibodies Phase 2
7 Antibodies, Monoclonal Phase 2
8 Immunoglobulins Phase 2
9 Maytansine Phase 2
10
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
11
Dactinomycin Approved, Investigational Not Applicable 50-76-0 2019 457193
12
Doxorubicin Approved, Investigational Not Applicable 23214-92-8 31703
13
Ifosfamide Approved Not Applicable 3778-73-2 3690
14
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
15
Vincristine Approved, Investigational Not Applicable 2068-78-2, 57-22-7 5978
16
Doxil Approved June 1999 Not Applicable 31703
17 Alkylating Agents Not Applicable
18 Anti-Bacterial Agents Not Applicable
19 Antibiotics, Antitubercular Not Applicable
20 Anti-Infective Agents Not Applicable
21 Antineoplastic Agents, Alkylating Not Applicable
22 Antirheumatic Agents Not Applicable
23 Immunosuppressive Agents Not Applicable
24
Isophosphamide mustard Not Applicable 0
25 Nucleic Acid Synthesis Inhibitors Not Applicable
26 Topoisomerase Inhibitors Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Lorvotuzumab Mertansine in Treating Younger Patients With Relapsed or Refractory Wilms Tumor, Rhabdomyosarcoma, Neuroblastoma, Pleuropulmonary Blastoma, Malignant Peripheral Nerve Sheath Tumor, or Synovial Sarcoma Active, not recruiting NCT02452554 Phase 2
2 Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer Completed NCT01353300
3 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
4 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Recruiting NCT01464606 Not Applicable Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
5 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
6 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
7 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
8 International Ovarian & Testicular Stromal Tumor Registry Recruiting NCT01970696
9 Congenital Lung Anomalies (CLA) Swiss Database Recruiting NCT03044769

Search NIH Clinical Center for Pleuropulmonary Blastoma

Cochrane evidence based reviews: respiratory tract neoplasms

Genetic Tests for Pleuropulmonary Blastoma

Genetic tests related to Pleuropulmonary Blastoma:

# Genetic test Affiliating Genes
1 Pleuropulmonary Blastoma 29

Anatomical Context for Pleuropulmonary Blastoma

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

41
Lung, Kidney, Fetal Lung, Thyroid, Testes, Lymph Node, Spinal Cord

Publications for Pleuropulmonary Blastoma

Articles related to Pleuropulmonary Blastoma:

(show top 50) (show all 180)
# Title Authors Year
1
Revisiting pleuropulmonary blastoma and atypical choroid plexus in a young child: DICER1 syndrome or not? ( 29943907 )
2018
2
Sudden death in a female child doe to undiagnosed pleuropulmonary blastoma - An autopsy case and review of literature. ( 29940434 )
2018
3
Review of Early Postoperative Metrics for Children Undergoing Resection of Congenital Pulmonary Airway Malformations and Report of Pleuropulmonary Blastoma at a Single Institution. ( 29920635 )
2018
4
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
5
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
6
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
7
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
8
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
9
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. ( 28624956 )
2017
10
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
11
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. ( 28688118 )
2017
12
Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients. ( 28991133 )
2017
13
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
14
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
15
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
16
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
17
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
18
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
19
Giant pleuropulmonary blastoma. ( 27341849 )
2016
20
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
21
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
22
Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. ( 25978641 )
2015
23
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
24
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
25
Pleuropulmonary blastoma: a case report. ( 25560611 )
2015
26
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
27
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2015
28
Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma. ( 25500911 )
2015
29
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. ( 25983419 )
2015
30
Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma. ( 25794098 )
2015
31
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
32
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
33
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
34
Infant pleuropulmonary blastoma: report of a rare case and review of literature. ( 26722577 )
2015
35
Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25176323 )
2014
36
Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. ( 24821309 )
2014
37
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. ( 24958022 )
2014
38
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. ( 24599167 )
2014
39
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences. ( 24909177 )
2014
40
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
41
Case 211: Pleuropulmonary Blastoma in Association with Cystic Nephroma-DICER1 Syndrome. ( 25340273 )
2014
42
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. ( 24079261 )
2014
43
Pleuropulmonary blastoma: a case report and review of the literature. ( 25177506 )
2014
44
Nasal chondromesenchymal hamartoma in an adolescent with pleuropulmonary blastoma. ( 25129191 )
2014
45
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. ( 24675358 )
2014
46
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. ( 25118636 )
2014
47
Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25251372 )
2014
48
Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. ( 24513630 )
2014
49
Pleuropulmonary blastoma: A report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. ( 25209242 )
2014
50
Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report. ( 24041875 )
2014

Variations for Pleuropulmonary Blastoma

UniProtKB/Swiss-Prot genetic disease variations for Pleuropulmonary Blastoma:

75
# Symbol AA change Variation ID SNP ID
1 DICER1 p.Leu1583Arg VAR_063150 rs137852976

ClinVar genetic disease variations for Pleuropulmonary Blastoma:

6
(show top 50) (show all 2084)
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
2 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh38 Chromosome 14, 95096172: 95096172
3 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh37 Chromosome 14, 95583961: 95583961
4 DICER1 NM_177438.2(DICER1): c.1507G> T (p.Glu503Ter) single nucleotide variant Pathogenic rs137852977 GRCh38 Chromosome 14, 95117624: 95117624
5 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh37 Chromosome 14, 95572535: 95572535
6 DICER1 NM_177438.2(DICER1): c.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh38 Chromosome 14, 95106198: 95106198
7 DICER1 DICER1, 1-BP INS, 2574A insertion Pathogenic
8 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh37 Chromosome 14, 95582912: 95582912
9 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh38 Chromosome 14, 95116575: 95116575
10 DICER1 DICER1, SER1826TER single nucleotide variant Pathogenic
11 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh38 Chromosome 14, 95090624: 95090624
12 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh37 Chromosome 14, 95556961: 95556961
13 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh38 Chromosome 14, 95094107: 95094107
14 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh37 Chromosome 14, 95560444: 95560444
15 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh37 Chromosome 14, 95562366: 95562366
16 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh38 Chromosome 14, 95096029: 95096029
17 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh37 Chromosome 14, 95562383: 95562383
18 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh38 Chromosome 14, 95096046: 95096046
19 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh38 Chromosome 14, 95096147: 95096147
20 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh37 Chromosome 14, 95562484: 95562484
21 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
22 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
23 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
24 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
25 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh37 Chromosome 14, 95566108: 95566109
26 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGTGTGTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772
27 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs763704682 GRCh38 Chromosome 14, 95099772: 95099773
28 DICER1 NM_177438.2(DICER1): c.4206+7_4206+8dupTT duplication Benign rs763704682 GRCh37 Chromosome 14, 95566109: 95566110
29 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh38 Chromosome 14, 95103382: 95103382
30 DICER1 NM_177438.2(DICER1): c.4014G> A (p.Ala1338=) single nucleotide variant Benign/Likely benign rs143454689 GRCh37 Chromosome 14, 95569719: 95569719
31 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh38 Chromosome 14, 95103424: 95103424
32 DICER1 NM_177438.2(DICER1): c.3972G> A (p.Lys1324=) single nucleotide variant Benign/Likely benign rs45562437 GRCh37 Chromosome 14, 95569761: 95569761
33 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh37 Chromosome 14, 95570214: 95570214
34 DICER1 NM_177438.2(DICER1): c.3519A> G (p.Thr1173=) single nucleotide variant Likely benign rs745483867 GRCh38 Chromosome 14, 95103877: 95103877
35 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh38 Chromosome 14, 95103930: 95103930
36 DICER1 NM_177438.2(DICER1): c.3466T> G (p.Leu1156Val) single nucleotide variant Uncertain significance rs760950917 GRCh37 Chromosome 14, 95570267: 95570267
37 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh37 Chromosome 14, 95570305: 95570305
38 DICER1 NM_177438.2(DICER1): c.3428T> C (p.Leu1143Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs139786661 GRCh38 Chromosome 14, 95103968: 95103968
39 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh37 Chromosome 14, 95574727: 95574727
40 DICER1 NM_177438.2(DICER1): c.2370G> A (p.Arg790=) single nucleotide variant Benign/Likely benign rs112712209 GRCh38 Chromosome 14, 95108390: 95108390
41 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh38 Chromosome 14, 95113197: 95113197
42 DICER1 NM_177438.2(DICER1): c.1935G> A (p.Pro645=) single nucleotide variant Benign/Likely benign rs61751177 GRCh37 Chromosome 14, 95579534: 95579534
43 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh38 Chromosome 14, 95116699: 95116699
44 DICER1 NM_177438.2(DICER1): c.1510-4dupT duplication Benign/Likely benign rs546524688 GRCh37 Chromosome 14, 95583036: 95583036
45 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh38 Chromosome 14, 95117758: 95117758
46 DICER1 NM_177438.2(DICER1): c.1377-4T> G single nucleotide variant Benign/Likely benign rs192490028 GRCh37 Chromosome 14, 95584095: 95584095
47 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh38 Chromosome 14, 95117763: 95117763
48 DICER1 NM_177438.2(DICER1): c.1377-9T> C single nucleotide variant Likely benign rs373746475 GRCh37 Chromosome 14, 95584100: 95584100
49 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh38 Chromosome 14, 95124381: 95124381
50 DICER1 NM_177438.2(DICER1): c.1191C> T (p.Ser397=) single nucleotide variant Likely benign rs780067844 GRCh37 Chromosome 14, 95590718: 95590718

Expression for Pleuropulmonary Blastoma

Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for Pleuropulmonary Blastoma

GO Terms for Pleuropulmonary Blastoma

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.91 DICER1 FGF9 SHH TP53
2 regulation of signaling receptor activity GO:0010469 9.86 FGF10 FGF9 SHH
3 positive regulation of gene expression GO:0010628 9.85 FGF9 SHH TP53
4 cell proliferation GO:0008283 9.85 S100B SHH TP53
5 cell-cell signaling GO:0007267 9.83 FGF10 FGF9 SHH
6 angiogenesis GO:0001525 9.78 FGF10 FGF9 SHH
7 positive regulation of cell proliferation GO:0008284 9.78 FGF10 FGF9 S100B SHH
8 determination of left/right symmetry GO:0007368 9.68 FGF10 SHH
9 negative regulation of cell differentiation GO:0045596 9.68 FGF10 SHH
10 inner ear morphogenesis GO:0042472 9.68 FGF10 FGF9
11 positive regulation of epithelial cell proliferation GO:0050679 9.67 FGF10 FGF9
12 negative regulation of Wnt signaling pathway GO:0030178 9.67 FGF9 SHH
13 odontogenesis of dentin-containing tooth GO:0042475 9.66 FGF10 SHH
14 embryonic limb morphogenesis GO:0030326 9.66 FGF9 SHH
15 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.65 FGF10 FGF9
16 positive regulation of cell division GO:0051781 9.65 FGF9 SHH
17 thymus development GO:0048538 9.64 FGF10 SHH
18 limb development GO:0060173 9.64 FGF10 SHH
19 positive regulation of Wnt signaling pathway GO:0030177 9.63 FGF10 SHH
20 embryonic skeletal system development GO:0048706 9.63 FGF9 SHH
21 metanephros development GO:0001656 9.62 FGF10 SHH
22 positive regulation of smoothened signaling pathway GO:0045880 9.62 FGF9 SHH
23 branching morphogenesis of an epithelial tube GO:0048754 9.6 FGF10 SHH
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FGF9 SHH
25 pancreas development GO:0031016 9.58 FGF10 SHH
26 hair follicle morphogenesis GO:0031069 9.58 FGF10 SHH
27 thyroid gland development GO:0030878 9.57 FGF10 SHH
28 embryonic pattern specification GO:0009880 9.56 FGF10 SHH
29 lung morphogenesis GO:0060425 9.55 FGF10 SHH
30 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.54 FGF10 FGF9
31 embryonic digestive tract morphogenesis GO:0048557 9.52 FGF10 SHH
32 embryonic digestive tract development GO:0048566 9.51 FGF10 FGF9
33 lung development GO:0030324 9.5 FGF10 FGF9 SHH
34 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FGF10 SHH
35 positive regulation of myelination GO:0031643 9.46 DICER1 S100B
36 limb bud formation GO:0060174 9.43 FGF10 SHH
37 branching involved in salivary gland morphogenesis GO:0060445 9.4 FGF10 SHH
38 lung-associated mesenchyme development GO:0060484 9.37 FGF9 SHH
39 lung epithelium development GO:0060428 9.26 FGF10 SHH
40 animal organ formation GO:0048645 9.16 FGF10 SHH
41 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 8.96 FGF10 SHH
42 bud outgrowth involved in lung branching GO:0060447 8.62 FGF10 SHH

Molecular functions related to Pleuropulmonary Blastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.16 FGF10 FGF9
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.96 FGF10 FGF9
3 fibroblast growth factor receptor binding GO:0005104 8.62 FGF10 FGF9

Sources for Pleuropulmonary Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
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