PPB
MCID: PLR004
MIFTS: 61

Pleuropulmonary Blastoma (PPB)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Respiratory 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 autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

OMIM 57 601200
Disease Ontology 12 DOID:4769
NCIt 50 C5669
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 rhabdoid cancer, and has symptoms including fever, dyspnea and respiratory distress. 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 Trastuzumab and Adenosine have been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and fetal lung, and related phenotypes are rhabdomyosarcoma and medulloblastoma

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

Genetics Home Reference : 25 DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.

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 103)
# Related Disease Score Top Affiliating Genes
1 pulmonary blastoma 33.2 DICER1 TP53
2 rhabdoid cancer 30.2 MB TP53
3 rhabdomyosarcoma 30.1 DICER1 MB MYCN TP53
4 embryonal rhabdomyosarcoma 30.0 DICER1 MB MYCN
5 kidney sarcoma 29.8 DICER1 MB
6 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.8
7 pleuropulmonary blastoma type 1 12.4
8 classic pulmonary blastoma 12.4
9 pleuropulmonary blastoma type 2 12.3
10 pleuropulmonary blastoma type 3 12.3
11 epithelial predominant pulmonary blastoma 12.2
12 dicer1-related disorders 11.9
13 embryoma 10.6
14 cystic nephroma 10.6
15 pneumothorax 10.5
16 cystic adenomatoid malformation of lung 10.5
17 medulloepithelioma 10.4
18 tumor predisposition syndrome 10.3
19 immunoglobulin alpha deficiency 10.3
20 carcinosarcoma 10.3
21 pneumothorax, primary spontaneous 10.2
22 thyroid cancer 10.2
23 teratoma 10.2
24 thyroid cancer, childhood 10.2
25 central nervous system primitive neuroectodermal neoplasm 10.1 DICER1 TP53
26 emphysema, congenital lobar 10.1
27 stiff-person syndrome 10.1
28 thyroid cancer, nonmedullary, 2 10.1
29 papilloma of choroid plexus 10.1
30 polycystic kidney disease 4 with or without polycystic liver disease 10.1
31 wilms tumor 6 10.1
32 hematopoietic stem cell transplantation 10.1
33 hepatitis 10.1
34 polycystic kidney disease 10.1
35 respiratory failure 10.1
36 squamous cell papilloma 10.1
37 atypical teratoid rhabdoid tumor 10.1
38 papilloma 10.1
39 cystic teratoma 10.1
40 atypical choroid plexus papilloma 10.1
41 pleural empyema 10.1
42 ovarian germ cell teratoma 10.1
43 kidney disease 10.1
44 lung disease 10.1
45 intraocular medulloepithelioma 10.1
46 fetal lung interstitial tumor 10.1
47 central nervous system benign neoplasm 10.1 MYCN TP53
48 cerebral primitive neuroectodermal tumor 10.1 MYCN TP53
49 goiter 10.1
50 childhood medulloblastoma 10.1 MYCN TP53

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 rhabdomyosarcoma 32 HP:0002859
2 medulloblastoma 32 very rare (1%) HP:0002885
3 pleuropulmonary blastoma 32 very rare (1%) HP:0100528

UMLS symptoms related to Pleuropulmonary Blastoma:


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

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 DICER1 FGF10 FGF9 MB MYCN SHH
2 cellular MP:0005384 10.14 DICER1 FGF10 FGF9 MB MYCN SHH
3 embryo MP:0005380 10.11 DICER1 FGF10 FGF9 MB MYCN SHH
4 growth/size/body region MP:0005378 10.09 DICER1 FGF10 FGF9 MB MYCN SHH
5 behavior/neurological MP:0005386 10.08 DICER1 FGF10 FGF9 MYCN SHH TP53
6 homeostasis/metabolism MP:0005376 10.07 DICER1 FGF10 FGF9 MB MYCN SHH
7 craniofacial MP:0005382 10.06 DICER1 FGF10 FGF9 MYCN SHH TP53
8 mortality/aging MP:0010768 10 DICER1 FGF10 FGF9 MB MYCN SHH
9 muscle MP:0005369 9.98 DICER1 FGF10 FGF9 MB MYCN SHH
10 digestive/alimentary MP:0005381 9.97 FGF10 FGF9 MYCN SHH TP53
11 limbs/digits/tail MP:0005371 9.97 DICER1 FGF10 FGF9 MYCN SHH TP53
12 endocrine/exocrine gland MP:0005379 9.96 DICER1 FGF10 FGF9 SHH TP53
13 integument MP:0010771 9.91 DICER1 FGF10 FGF9 SHH TP53
14 normal MP:0002873 9.85 DICER1 FGF10 FGF9 MYCN SHH TP53
15 hearing/vestibular/ear MP:0005377 9.84 FGF10 FGF9 SHH TP53
16 renal/urinary system MP:0005367 9.8 DICER1 FGF10 FGF9 MYCN SHH TP53
17 liver/biliary system MP:0005370 9.78 DICER1 MYCN SHH TP53
18 reproductive system MP:0005389 9.73 DICER1 FGF10 FGF9 MYCN SHH TP53
19 no phenotypic analysis MP:0003012 9.71 DICER1 MYCN SHH TP53
20 respiratory system MP:0005388 9.7 DICER1 FGF10 FGF9 MB MYCN SHH
21 skeleton MP:0005390 9.43 DICER1 FGF10 FGF9 MYCN SHH TP53
22 vision/eye MP:0005391 9.1 DICER1 FGF10 FGF9 MYCN SHH TP53

Drugs & Therapeutics for Pleuropulmonary Blastoma

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
2
Adenosine Approved, Investigational Phase 2 58-61-7 60961
3 Antibodies Phase 2
4 Antineoplastic Agents, Phytogenic Phase 2,Not Applicable
5 Maytansine Phase 2
6 Ado-trastuzumab emtansine Phase 2
7 Immunoglobulins Phase 2
8 Antimitotic Agents Phase 2,Not Applicable
9 Antibodies, Monoclonal Phase 2
10
Dactinomycin Approved, Investigational Not Applicable 50-76-0 457193 2019
11
Doxorubicin Approved, Investigational Not Applicable 23214-92-8 31703
12
Vincristine Approved, Investigational Not Applicable 57-22-7, 2068-78-2 5978
13
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
14
Mechlorethamine Approved, Investigational Not Applicable 51-75-2 4033
15
Ifosfamide Approved Not Applicable 3778-73-2 3690
16
Doxil Approved June 1999 Not Applicable 31703
17 Immunologic Factors Not Applicable
18
Isophosphamide mustard Not Applicable 0
19 Anti-Infective Agents Not Applicable
20 Alkylating Agents Not Applicable
21 Antirheumatic Agents Not Applicable
22 Antibiotics, Antitubercular Not Applicable
23 Nucleic Acid Synthesis Inhibitors Not Applicable
24 Anti-Bacterial Agents Not Applicable
25 Antineoplastic Agents, Alkylating Not Applicable
26 Immunosuppressive Agents Not Applicable
27 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 Review of the Paediatric Pleuropulmonary Blastoma French Series Recruiting NCT03044834
3 International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry Recruiting NCT01464606 Not Applicable Vincristine;Dactinomycin;Cyclophosphamide;Ifosfamide;Doxorubicin
4 Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome Recruiting NCT00565903
5 DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study Recruiting NCT01247597
6 International PPB Registry for PPB, DICER1 and Associated Conditions Recruiting NCT03382158
7 Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer Completed NCT01353300
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, Ovary, Testes, Cerebellum

Publications for Pleuropulmonary Blastoma

Articles related to Pleuropulmonary Blastoma:

(show top 50) (show all 184)
# 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
Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review. ( 30097050 )
2018
5
Pleuropulmonary Blastoma Developing in a Case of Misinterpreted Congenital Pulmonary Airway Malformation: a Case Report. ( 30358469 )
2018
6
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
7
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
8
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
9
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
10
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
11
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. ( 28624956 )
2017
12
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
13
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. ( 28688118 )
2017
14
Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients. ( 28991133 )
2017
15
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
16
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
17
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
18
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
19
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
20
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
21
Giant pleuropulmonary blastoma. ( 27341849 )
2016
22
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
23
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
24
Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. ( 25978641 )
2015
25
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
26
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
27
Pleuropulmonary blastoma: a case report. ( 25560611 )
2015
28
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
29
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2015
30
Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma. ( 25500911 )
2015
31
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. ( 25983419 )
2015
32
Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma. ( 25794098 )
2015
33
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
34
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
35
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
36
Infant pleuropulmonary blastoma: report of a rare case and review of literature. ( 26722577 )
2015
37
Temporal order of RNase IIIb and loss-of-function mutations during development determines phenotype in DICER1 syndrome: a unique variant of the two-hit tumor suppression model. ( 26925222 )
2015
38
Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25176323 )
2014
39
Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. ( 24821309 )
2014
40
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. ( 24958022 )
2014
41
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. ( 24599167 )
2014
42
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
43
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
44
Case 211: Pleuropulmonary Blastoma in Association with Cystic Nephroma-DICER1 Syndrome. ( 25340273 )
2014
45
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. ( 25356068 )
2014
46
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. ( 24079261 )
2014
47
Pleuropulmonary blastoma: a case report and review of the literature. ( 25177506 )
2014
48
Nasal chondromesenchymal hamartoma in an adolescent with pleuropulmonary blastoma. ( 25129191 )
2014
49
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. ( 24675358 )
2014
50
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. ( 25118636 )
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 2419)
# 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.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 GRCh37 Chromosome 14, 95562961: 95562961
12 DICER1 NM_177438.2(DICER1): c.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 GRCh38 Chromosome 14, 95096624: 95096624
13 DICER1 NM_177438.2(DICER1): c.4296G> A (p.Pro1432=) single nucleotide variant Likely benign rs146679273 NCBI36 Chromosome 14, 94632714: 94632714
14 DICER1 NM_177438.2(DICER1): c.20A> G (p.Gln7Arg) single nucleotide variant Benign/Likely benign rs117358479 GRCh37 Chromosome 14, 95599776: 95599776
15 DICER1 NM_177438.2(DICER1): c.20A> G (p.Gln7Arg) single nucleotide variant Benign/Likely benign rs117358479 GRCh38 Chromosome 14, 95133439: 95133439
16 DICER1 NM_177438.2(DICER1): c.59C> T (p.Ala20Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147660793 GRCh37 Chromosome 14, 95599737: 95599737
17 DICER1 NM_177438.2(DICER1): c.59C> T (p.Ala20Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147660793 GRCh38 Chromosome 14, 95133400: 95133400
18 DICER1 NM_177438.2(DICER1): c.1825G> T (p.Asp609Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs114947750 GRCh37 Chromosome 14, 95582086: 95582086
19 DICER1 NM_177438.2(DICER1): c.1825G> T (p.Asp609Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs114947750 GRCh38 Chromosome 14, 95115749: 95115749
20 DICER1 NM_177438.2(DICER1): c.2557A> G (p.Ile853Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61729795 GRCh37 Chromosome 14, 95574310: 95574310
21 DICER1 NM_177438.2(DICER1): c.2557A> G (p.Ile853Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61729795 GRCh38 Chromosome 14, 95107973: 95107973
22 DICER1 NM_177438.2(DICER1): c.2614G> A (p.Ala872Thr) single nucleotide variant Benign/Likely benign rs149242330 GRCh37 Chromosome 14, 95574253: 95574253
23 DICER1 NM_177438.2(DICER1): c.2614G> A (p.Ala872Thr) single nucleotide variant Benign/Likely benign rs149242330 GRCh38 Chromosome 14, 95107916: 95107916
24 DICER1 NM_177438.2(DICER1): c.179C> T (p.Thr60Ile) single nucleotide variant Uncertain significance rs587778228 GRCh37 Chromosome 14, 95598980: 95598980
25 DICER1 NM_177438.2(DICER1): c.179C> T (p.Thr60Ile) single nucleotide variant Uncertain significance rs587778228 GRCh38 Chromosome 14, 95132643: 95132643
26 DICER1 NM_177438.2(DICER1): c.3334A> G (p.Asn1112Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs587778229 GRCh37 Chromosome 14, 95570399: 95570399
27 DICER1 NM_177438.2(DICER1): c.3334A> G (p.Asn1112Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs587778229 GRCh38 Chromosome 14, 95104062: 95104062
28 DICER1 NM_177438.2(DICER1): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs150514959 GRCh37 Chromosome 14, 95570180: 95570180
29 DICER1 NM_177438.2(DICER1): c.3553G> A (p.Ala1185Thr) single nucleotide variant Uncertain significance rs150514959 GRCh38 Chromosome 14, 95103843: 95103843
30 DICER1 NM_177438.2(DICER1): c.4260_4262delGGA (p.Glu1420del) deletion Conflicting interpretations of pathogenicity rs544960260 GRCh37 Chromosome 14, 95562995: 95562997
31 DICER1 NM_177438.2(DICER1): c.4260_4262delGGA (p.Glu1420del) deletion Conflicting interpretations of pathogenicity rs544960260 GRCh38 Chromosome 14, 95096658: 95096660
32 DICER1 NM_177438.2(DICER1): c.4923T> G (p.Cys1641Trp) single nucleotide variant Uncertain significance rs587778231 GRCh37 Chromosome 14, 95562334: 95562334
33 DICER1 NM_177438.2(DICER1): c.4923T> G (p.Cys1641Trp) single nucleotide variant Uncertain significance rs587778231 GRCh38 Chromosome 14, 95095997: 95095997
34 DICER1 NM_177438.2(DICER1): c.5276A> G (p.Lys1759Arg) single nucleotide variant Uncertain significance rs144259142 GRCh37 Chromosome 14, 95560313: 95560313
35 DICER1 NM_177438.2(DICER1): c.5276A> G (p.Lys1759Arg) single nucleotide variant Uncertain significance rs144259142 GRCh38 Chromosome 14, 95093976: 95093976
36 DICER1 NM_177438.2(DICER1): c.1013A> C (p.Glu338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587778232 GRCh37 Chromosome 14, 95590896: 95590896
37 DICER1 NM_177438.2(DICER1): c.1013A> C (p.Glu338Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587778232 GRCh38 Chromosome 14, 95124559: 95124559
38 DICER1 NM_177438.2(DICER1): c.5516G> A (p.Arg1839Gln) single nucleotide variant Uncertain significance rs587778233 GRCh37 Chromosome 14, 95557551: 95557551
39 DICER1 NM_177438.2(DICER1): c.5516G> A (p.Arg1839Gln) single nucleotide variant Uncertain significance rs587778233 GRCh38 Chromosome 14, 95091214: 95091214
40 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh38 Chromosome 14, 95090624: 95090624
41 DICER1 NM_177438.2(DICER1): c.5643T> C (p.Thr1881=) single nucleotide variant Likely benign rs199574382 GRCh37 Chromosome 14, 95556961: 95556961
42 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh38 Chromosome 14, 95094107: 95094107
43 DICER1 NM_177438.2(DICER1): c.5145C> T (p.Leu1715=) single nucleotide variant Benign/Likely benign rs139500905 GRCh37 Chromosome 14, 95560444: 95560444
44 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh37 Chromosome 14, 95562366: 95562366
45 DICER1 NM_177438.2(DICER1): c.4891T> G (p.Ser1631Ala) single nucleotide variant Likely benign rs145551486 GRCh38 Chromosome 14, 95096029: 95096029
46 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh37 Chromosome 14, 95562383: 95562383
47 DICER1 NM_177438.2(DICER1): c.4874C> A (p.Ser1625Tyr) single nucleotide variant Uncertain significance rs864622653 GRCh38 Chromosome 14, 95096046: 95096046
48 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh38 Chromosome 14, 95096147: 95096147
49 DICER1 NM_177438.2(DICER1): c.4773C> T (p.Leu1591=) single nucleotide variant Likely benign rs138308365 GRCh37 Chromosome 14, 95562484: 95562484
50 DICER1 NM_177438.2(DICER1): c.4206+8_4206+9insTTGT insertion Benign rs763704682 GRCh38 Chromosome 14, 95099771: 95099772

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 43)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 FGF10 MYCN SHH TP53
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.92 DICER1 FGF9 SHH TP53
3 regulation of signaling receptor activity GO:0010469 9.86 FGF10 FGF9 SHH
4 positive regulation of transcription, DNA-templated GO:0045893 9.85 FGF10 MYCN SHH TP53
5 angiogenesis GO:0001525 9.79 FGF10 FGF9 SHH
6 cell-cell signaling GO:0007267 9.78 FGF10 FGF9 SHH
7 positive regulation of gene expression GO:0010628 9.73 FGF9 MYCN SHH TP53
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.69 FGF10 FGF9
9 determination of left/right symmetry GO:0007368 9.68 FGF10 SHH
10 negative regulation of cell differentiation GO:0045596 9.68 FGF10 SHH
11 inner ear morphogenesis GO:0042472 9.68 FGF10 FGF9
12 positive regulation of epithelial cell proliferation GO:0050679 9.68 FGF10 FGF9
13 odontogenesis of dentin-containing tooth GO:0042475 9.67 FGF10 SHH
14 embryonic limb morphogenesis GO:0030326 9.67 FGF9 SHH
15 negative regulation of Wnt signaling pathway GO:0030178 9.66 FGF9 SHH
16 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.66 FGF10 FGF9
17 positive regulation of cell division GO:0051781 9.65 FGF9 SHH
18 thymus development GO:0048538 9.65 FGF10 SHH
19 embryonic skeletal system development GO:0048706 9.65 FGF9 SHH
20 limb development GO:0060173 9.64 FGF10 SHH
21 positive regulation of Wnt signaling pathway GO:0030177 9.64 FGF10 SHH
22 metanephros development GO:0001656 9.63 FGF10 SHH
23 positive regulation of smoothened signaling pathway GO:0045880 9.63 FGF9 SHH
24 pancreas development GO:0031016 9.61 FGF10 SHH
25 branching morphogenesis of an epithelial tube GO:0048754 9.6 FGF10 SHH
26 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 FGF9 SHH
27 hair follicle morphogenesis GO:0031069 9.58 FGF10 SHH
28 thyroid gland development GO:0030878 9.58 FGF10 SHH
29 embryonic pattern specification GO:0009880 9.57 FGF10 SHH
30 lung morphogenesis GO:0060425 9.56 FGF10 SHH
31 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.54 FGF10 FGF9
32 embryonic digestive tract development GO:0048566 9.52 FGF10 FGF9
33 embryonic digestive tract morphogenesis GO:0048557 9.51 FGF10 SHH
34 epithelial tube branching involved in lung morphogenesis GO:0060441 9.49 FGF10 SHH
35 branching involved in salivary gland morphogenesis GO:0060445 9.48 FGF10 SHH
36 limb bud formation GO:0060174 9.46 FGF10 SHH
37 lung development GO:0030324 9.43 FGF10 FGF9 SHH
38 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.4 MYCN TP53
39 lung epithelium development GO:0060428 9.37 FGF10 SHH
40 lung-associated mesenchyme development GO:0060484 9.32 FGF9 SHH
41 animal organ formation GO:0048645 9.16 FGF10 SHH
42 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 8.96 FGF10 SHH
43 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

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