MCID: PLR004
MIFTS: 62

Pleuropulmonary Blastoma

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

Aliases & Classifications for Pleuropulmonary Blastoma

MalaCards integrated aliases for Pleuropulmonary Blastoma:

Name: Pleuropulmonary Blastoma 53 12 49 55 71 28 13 41 14 69
Ppbftds 53 55 71
Ppb 53 49 71
Ppb Familial Tumor and Dysplasia Syndrome 53 71
Respiratory Tract Neoplasms 41 69
Pulmonary Blastoma 49 69
Dicer1 Syndrome 55 69
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome 55
Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome 55
Ppb Familial Tumor and Dysplasia Syndrome; Ppbftds 53
Ppb Familial Tumor Susceptibility Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant

Miscellaneous:
decreased penetrance
onset before age 5 years


HPO:

31
pleuropulmonary blastoma:
Inheritance familial predisposition autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare respiratory diseases


External Ids:

OMIM 53 601200
Disease Ontology 12 DOID:4769
NCIt 46 C5669
SNOMED-CT 64 128763002 707670009
MESH via Orphanet 42 C537516
UMLS via Orphanet 70 C1266144
ICD10 via Orphanet 33 C34.1 C34.2 C34.3 more
MedGen 39 C1266144

Summaries for Pleuropulmonary Blastoma

OMIM : 53 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 blastoma, and has symptoms including abnormality of metabolism/homeostasis, rhabdomyosarcoma and medulloblastoma. An important gene associated with Pleuropulmonary Blastoma is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are GAB1 signalosome and Endometrial cancer. 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 cardiovascular system and cellular

UniProtKB/Swiss-Prot : 71 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.

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

Wikipedia : 72 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 83)
# Related Disease Score Top Affiliating Genes
1 pulmonary blastoma 33.1 DICER1 TP53
2 blastoma 32.0 DICER1 TP53
3 rhabdomyosarcoma 29.8 DICER1 MB TP53
4 embryonal rhabdomyosarcoma 29.6 DICER1 MB
5 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 12.6
6 pleuropulmonary blastoma type 1 12.3
7 pleuropulmonary blastoma type 2 12.1
8 pleuropulmonary blastoma type 3 12.1
9 dicer1-related disorders 11.4
10 cystic nephroma 10.4
11 pneumothorax 10.4
12 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.3
13 central nervous system primitive neuroectodermal neoplasm 10.3 DICER1 TP53
14 medulloepithelioma 10.3
15 blood group, i system 10.2
16 tumor predisposition syndrome 10.2
17 immunoglobulin alpha deficiency 10.2
18 cerebritis 10.2
19 thyroiditis 10.2
20 acanthoma 10.2 FGF10 FGFR2
21 dysgerminoma of ovary 10.2 DICER1 FGFR2
22 clear cell acanthoma 10.1 FGF10 FGFR2
23 pneumothorax, primary spontaneous 10.1
24 stroke, ischemic 10.1
25 thyroid cancer 10.1
26 teratoma 10.1
27 thyroid cancer, childhood 10.1
28 keratocystic odontogenic tumor 10.0 SHH TP53
29 adult medulloblastoma 10.0 SHH TP53
30 choanal atresia, posterior 10.0 FGFR2 SHH
31 estrogen-receptor positive breast cancer 10.0 FGFR2 TP53
32 infratentorial cancer 10.0 SHH TP53
33 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 FGFR2 SHH
34 meninges sarcoma 10.0 MB TP53
35 integumentary system cancer 10.0 SHH TP53
36 sarcomatoid squamous cell skin carcinoma 10.0 MB TP53
37 sclerosing liposarcoma 10.0 MB TP53
38 adenosarcoma 9.9 MB TP53
39 emphysema, congenital lobar 9.9
40 neurofibromatosis, type iv, of riccardi 9.9
41 stiff-person syndrome 9.9
42 thyroid cancer, nonmedullary, 2 9.9
43 papilloma of choroid plexus 9.9
44 polycystic kidney disease 4 with or without hepatic disease 9.9
45 rhabdoid tumor predisposition syndrome 1 9.9
46 polycystic kidney disease 5 9.9
47 hematopoietic stem cell transplantation 9.9
48 hepatitis 9.9
49 hyperekplexia 1 9.9
50 respiratory failure 9.9

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 rhabdomyosarcoma 31 HP:0002859
3 medulloblastoma 31 HP:0002885
4 pleuropulmonary blastoma 31 HP:0100528

UMLS symptoms related to Pleuropulmonary Blastoma:


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

MGI Mouse Phenotypes related to Pleuropulmonary Blastoma:

43 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.14 DICER1 FGF10 FGF9 FGFR2 MB SHH
2 cellular MP:0005384 10.14 FGF9 FGFR2 MB SHH TP53 DICER1
3 embryo MP:0005380 10.11 DICER1 FGF10 FGF9 FGFR2 MB SHH
4 growth/size/body region MP:0005378 10.09 DICER1 FGF10 FGF9 FGFR2 MB SHH
5 behavior/neurological MP:0005386 10.08 DICER1 FGF10 FGF9 FGFR2 SHH TP53
6 homeostasis/metabolism MP:0005376 10.07 DICER1 FGF10 FGF9 FGFR2 MB SHH
7 craniofacial MP:0005382 10.06 SHH TP53 DICER1 FGF10 FGF9 FGFR2
8 endocrine/exocrine gland MP:0005379 10.03 TP53 DICER1 FGF10 FGF9 FGFR2 SHH
9 mortality/aging MP:0010768 10 MB SHH TP53 DICER1 FGF10 FGF9
10 immune system MP:0005387 9.99 DICER1 FGF10 FGF9 FGFR2 SHH TP53
11 muscle MP:0005369 9.98 DICER1 FGF10 FGF9 FGFR2 MB SHH
12 digestive/alimentary MP:0005381 9.97 FGF10 FGF9 FGFR2 SHH TP53
13 integument MP:0010771 9.97 DICER1 FGF10 FGF9 FGFR2 SHH TP53
14 limbs/digits/tail MP:0005371 9.95 DICER1 FGF10 FGF9 FGFR2 SHH TP53
15 hearing/vestibular/ear MP:0005377 9.93 FGF10 FGF9 FGFR2 SHH TP53
16 normal MP:0002873 9.85 DICER1 FGF10 FGF9 FGFR2 SHH TP53
17 reproductive system MP:0005389 9.73 DICER1 FGF10 FGF9 FGFR2 SHH TP53
18 renal/urinary system MP:0005367 9.72 DICER1 FGF10 FGFR2 SHH TP53
19 neoplasm MP:0002006 9.71 DICER1 FGFR2 SHH TP53
20 respiratory system MP:0005388 9.7 FGF9 FGFR2 MB SHH TP53 DICER1
21 skeleton MP:0005390 9.43 DICER1 FGF10 FGF9 FGFR2 SHH TP53
22 vision/eye MP:0005391 9.1 DICER1 FGF10 FGF9 FGFR2 SHH TP53

Drugs & Therapeutics for Pleuropulmonary Blastoma

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

(show all 25)
# 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
4 Antineoplastic Agents, Phytogenic Phase 2
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 50-18-0, 6055-19-2 2907
11
Dactinomycin Approved, Investigational 50-76-0 457193 2019
12
Doxorubicin Approved, Investigational 23214-92-8 31703
13
Ifosfamide Approved 3778-73-2 3690
14
Mechlorethamine Approved, Investigational 51-75-2 4033
15
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
16
Doxil Approved June 1999 31703
17 Alkylating Agents
18 Anti-Bacterial Agents
19 Antibiotics, Antitubercular
20 Anti-Infective Agents
21 Antirheumatic Agents
22 Immunosuppressive Agents
23 Isophosphamide mustard 0
24 Nucleic Acid Synthesis Inhibitors
25 Topoisomerase Inhibitors

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 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 28

Anatomical Context for Pleuropulmonary Blastoma

MalaCards organs/tissues related to Pleuropulmonary Blastoma:

38
Lung, Kidney, Fetal Lung, Thyroid, Testes, Lymph Node, Spinal Cord

Publications for Pleuropulmonary Blastoma

Articles related to Pleuropulmonary Blastoma:

(show top 50) (show all 173)
# Title Authors Year
1
Fine needle aspiration in intraocular metastasis from pleuropulmonary blastoma. A case report and a review of the literature. ( 27718333 )
2017
2
A pair of DICER1-positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis. ( 28688118 )
2017
3
A Case Report of Pleuropulmonary Blastoma Presenting as Tension Pneumothorax. ( 28469342 )
2017
4
It's Rare So Be Aware: Pleuropulmonary Blastoma Mimicking Congenital Pulmonary Airway Malformation. ( 28405541 )
2017
5
DICER1 mutations in twelve Chinese patients with pleuropulmonary blastoma. ( 28624956 )
2017
6
The impact of local control in the treatment of type II/III pleuropulmonary blastoma. Experience of the Cooperative Weichteilsarkom Studiengruppe (CWS). ( 28103635 )
2017
7
Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier: The management of residual lung cystic lesions. ( 28097783 )
2017
8
Pleuropulmonary Blastoma: A Single-center Case Series of 6 Patients. ( 28991133 )
2017
9
Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree. ( 28222777 )
2017
10
Reply to comment on: DICER1-negative pleuropulmonary blastoma in a patient with selective IgA deficiency. ( 27443584 )
2016
11
Giant pleuropulmonary blastoma. ( 27341849 )
2016
12
Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome. ( 27617153 )
2016
13
Reply to the Letter to the Editor 'Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV'. ( 27577236 )
2016
14
DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 26686196 )
2016
15
Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV. ( 27562209 )
2016
16
Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency. ( 27238822 )
2016
17
Metachronous Type I pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child. ( 27442759 )
2016
18
Pathomechanisms of Congenital Cystic Lung Diseases: Focus on Congenital Cystic Adenomatoid Malformation and Pleuropulmonary Blastoma. ( 26907828 )
2016
19
Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. ( 25978641 )
2015
20
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
21
Insulin-like Growth Factor 2 Gene Expression Molecularly Differentiates Pleuropulmonary Blastoma and Embryonal Rhabdomyosarcoma. ( 26056800 )
2015
22
Infant pleuropulmonary blastoma: report of a rare case and review of literature. ( 26722577 )
2015
23
Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome. ( 26698637 )
2015
24
Pleuropulmonary Blastoma in a Neonate Diagnosed Prenatally as Congenital Pulmonary Airway Malformation. ( 26227654 )
2015
25
DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: What the paediatric urologist needs to know. ( 26454454 )
2015
26
Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome. ( 25791583 )
2015
27
Cell- and developmental stage-specific Dicer1 ablation in the lung epithelium models cystic pleuropulmonary blastoma. ( 25500911 )
2015
28
Pleuropulmonary blastoma in adolescence: A rare tumor beyond first decade of life. ( 25983419 )
2015
29
Pleuropulmonary blastoma: a case report. ( 25560611 )
2015
30
Radiographic Screening of Infants and Young Children With Genetic Predisposition for Rare Malignancies: DICER1 Mutations and Pleuropulmonary Blastoma. ( 25794098 )
2015
31
Can congenital pulmonary airway malformation be distinguished from Type I pleuropulmonary blastoma based on clinical and radiological features? ( 26561249 )
2015
32
Treatment and prognostic factors in pleuropulmonary blastoma: An EXPeRT report. ( 24041875 )
2014
33
Thoracoscopic lobectomy for type I pleuropulmonary blastoma in an infant. ( 23588846 )
2014
34
Clinicopathological and Extensive Immunohistochemical Study of a Type II Pleuropulmonary Blastoma. ( 24079261 )
2014
35
Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. ( 24513630 )
2014
36
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma. ( 24675358 )
2014
37
Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma. ( 24821309 )
2014
38
Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25251372 )
2014
39
Case 211: Pleuropulmonary Blastoma in Association with Cystic Nephroma-DICER1 Syndrome. ( 25340273 )
2014
40
Pleuropulmonary blastoma: A report on 350 central pathology-confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry. ( 25209242 )
2014
41
Diagnosis and treatment of pleuropulmonary blastoma-single center experience. ( 24692196 )
2014
42
Pleuropulmonary blastoma type III extended into the left atrium in a 16-month old boy. ( 24599167 )
2014
43
Ciliary body medulloepithelioma association with pleuropulmonary blastoma in a familial tumor predisposition syndrome. ( 25032694 )
2014
44
Serum microRNA screening for DICER1-associated pleuropulmonary blastoma. ( 25176323 )
2014
45
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder. ( 25118636 )
2014
46
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
47
Type III pleuropulmonary blastoma in a 7-month-old female baby with impending respiratory failure: a case report. ( 24958022 )
2014
48
Nasal chondromesenchymal hamartoma in an adolescent with pleuropulmonary blastoma. ( 25129191 )
2014
49
Radiologic diagnosis of a type-III pleuropulmonary blastoma. ( 25786292 )
2014
50
Pleuropulmonary blastoma: a case report and review of the literature. ( 25177506 )
2014

Variations for Pleuropulmonary Blastoma

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

71
# 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 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 DICER1, SER1826TER single nucleotide variant Pathogenic
2 DICER1 NM_177438.2(DICER1): c.4748T> G (p.Leu1583Arg) single nucleotide variant Pathogenic rs137852976 GRCh37 Chromosome 14, 95562509: 95562509
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.2830C> T (p.Arg944Ter) single nucleotide variant Pathogenic rs137852978 GRCh37 Chromosome 14, 95572535: 95572535
5 DICER1 DICER1, 1-BP INS, 2574A insertion Pathogenic
6 DICER1 NM_177438.2(DICER1): c.1630C> T (p.Arg544Ter) single nucleotide variant Pathogenic rs137852979 GRCh37 Chromosome 14, 95582912: 95582912
7 DICER1 NM_177438.2(DICER1): c.559C> T (p.Arg187Ter) single nucleotide variant Pathogenic rs763801533 GRCh38 Chromosome 14, 95130072: 95130072
8 DICER1 NM_177438.2(DICER1): c.489C> G (p.Tyr163Ter) single nucleotide variant Pathogenic rs864622626 GRCh37 Chromosome 14, 95596479: 95596479
9 DICER1 NM_177438.2(DICER1): c.4754C> G (p.Ser1585Ter) single nucleotide variant Pathogenic rs875989779 GRCh37 Chromosome 14, 95562503: 95562503
10 DICER1 NM_177438.2(DICER1): c.4407_4410delTTCT (p.Ser1470Leufs) deletion Pathogenic rs875989784 GRCh37 Chromosome 14, 95562847: 95562850
11 DICER1 NM_177438.2(DICER1): c.5315_5316delTT (p.Phe1772Cysfs) deletion Pathogenic rs878855274 GRCh38 Chromosome 14, 95093936: 95093937
12 DICER1 NM_177438.2(DICER1): c.4004dupA (p.Tyr1335Terfs) duplication Pathogenic rs878855262 GRCh37 Chromosome 14, 95569729: 95569729
13 DICER1 NM_177438.2(DICER1): c.2026C> T (p.Arg676Ter) single nucleotide variant Pathogenic rs878855246 GRCh38 Chromosome 14, 95113106: 95113106
14 DICER1 NM_177438.2(DICER1): c.5465A> T (p.D1822V) single nucleotide variant Pathogenic rs886037729 GRCh37 Chromosome 14, 95557602: 95557602
15 DICER1 NM_177438.2(DICER1): c.5394delA (p.E1799Kfs*39) deletion Pathogenic rs886037728 GRCh38 Chromosome 14, 95091336: 95091336
16 DICER1 NM_177438.2(DICER1): c.5096-498_5364+356del deletion Pathogenic GRCh38 Chromosome 14, 95093532: 95094654
17 DICER1 NM_177438.2(DICER1): c.5299delC (p.H1767Mfs*71) deletion Pathogenic rs886037727 GRCh38 Chromosome 14, 95093953: 95093953
18 DICER1 NM_177438.2(DICER1): c.5251_5255delAAGTA (p.K1751Rfs*12) deletion Pathogenic rs886037726 GRCh37 Chromosome 14, 95560334: 95560338
19 DICER1 NM_177438.2(DICER1): c.5194dupC (p.L1732Pfs*33) duplication Pathogenic rs886037725 GRCh38 Chromosome 14, 95094058: 95094058
20 DICER1 NM_177438.2(DICER1): c.5123G> A (p.G1708E) single nucleotide variant Pathogenic rs886037724 GRCh38 Chromosome 14, 95094129: 95094129
21 DICER1 NM_177438.2(DICER1): c.5104C> T (p.Q1702*) single nucleotide variant Pathogenic rs886037723 GRCh38 Chromosome 14, 95094148: 95094148
22 DICER1 NM_177438.2(DICER1): c.5095+1G> C single nucleotide variant Pathogenic rs886037722 GRCh37 Chromosome 14, 95562161: 95562161
23 DICER1 NM_177438.2(DICER1): c.5053C> T (p.Q1685*) single nucleotide variant Pathogenic rs886037721 GRCh38 Chromosome 14, 95095867: 95095867
24 DICER1 NM_177438.2(DICER1): c.4960_4961dupGA (p.D1654Efs*7) duplication Pathogenic rs886037720 GRCh38 Chromosome 14, 95095959: 95095960
25 DICER1 NM_177438.2(DICER1): c.4626delG (p.Q1542Hfs*18) deletion Pathogenic rs886037719 GRCh38 Chromosome 14, 95096294: 95096294
26 DICER1 NM_177438.2(DICER1): c.4621A> T (p.K1541*) single nucleotide variant Pathogenic rs886037718 GRCh37 Chromosome 14, 95562636: 95562636
27 DICER1 NM_177438.2(DICER1): c.4605_4606delTG (p.C1535Wfs*3) deletion Pathogenic rs886037717 GRCh38 Chromosome 14, 95096314: 95096315
28 DICER1 NM_177438.2(DICER1): c.4517G> A (p.W1506*) single nucleotide variant Pathogenic rs886037716 GRCh38 Chromosome 14, 95096403: 95096403
29 DICER1 NM_177438.2(DICER1): c.4511delG (p.S1504Tfs*56) deletion Pathogenic rs886037715 GRCh38 Chromosome 14, 95096409: 95096409
30 DICER1 NM_177438.2(DICER1): c.4426_4427insT (p.D1476Vfs5*) insertion Pathogenic rs886037714 GRCh38 Chromosome 14, 95096493: 95096494
31 DICER1 NM_177438.2(DICER1): c.4407_4408delTT (p.P1471Ffs*5) deletion Pathogenic rs886037713 GRCh38 Chromosome 14, 95096512: 95096513
32 DICER1 NM_177438.2(DICER1): c.4309_4312delGACT (p.D1437Mfs*16) deletion Pathogenic rs886037712 GRCh38 Chromosome 14, 95096608: 95096611
33 DICER1 NM_177438.2(DICER1): c.4190G> A (p.W1397*) single nucleotide variant Pathogenic rs886037711 GRCh38 Chromosome 14, 95099796: 95099796
34 DICER1 NM_177438.2(DICER1): c.3875_3878delCCAA (p.P1292Lfs*9) deletion Pathogenic rs886037710 GRCh38 Chromosome 14, 95103518: 95103521
35 DICER1 NM_177438.2(DICER1): c.3777dupC (p.V1260Rfs*19) duplication Pathogenic rs886037709 GRCh38 Chromosome 14, 95103619: 95103619
36 DICER1 NM_177438.2(DICER1): c.3726C> A (p.Y1242*) single nucleotide variant Pathogenic rs886037708 GRCh38 Chromosome 14, 95103670: 95103670
37 DICER1 NM_177438.2(DICER1): c.3676G> T (p.E1226*) single nucleotide variant Pathogenic rs748087536 GRCh38 Chromosome 14, 95103720: 95103720
38 DICER1 NM_177438.2(DICER1): c.3658C> T (p.Q1220*) single nucleotide variant Pathogenic rs886037707 GRCh38 Chromosome 14, 95103738: 95103738
39 DICER1 NM_177438.2(DICER1): c.3589delT (p.C1197Afs*6) deletion Pathogenic rs886037706 GRCh38 Chromosome 14, 95103807: 95103807
40 DICER1 NM_177438.2(DICER1): c.3579_3580delCA (p.N1193Kfs*41) deletion Pathogenic rs886037705 GRCh37 Chromosome 14, 95570153: 95570154
41 DICER1 NM_177438.2(DICER1): c.3540C> A (p.Y1180*) single nucleotide variant Pathogenic rs886037704 GRCh37 Chromosome 14, 95570193: 95570193
42 DICER1 NM_177438.2(DICER1): c.3538_3539delTA (p.Y1180Qfs*10) deletion Pathogenic rs886037703 GRCh37 Chromosome 14, 95570194: 95570195
43 DICER1 NM_177438.2(DICER1): c.3534_3535insAA (p.S1179Nfs*14) insertion Pathogenic rs886037702 GRCh37 Chromosome 14, 95570198: 95570199
44 DICER1 NM_177438.2(DICER1): c.3515_3525delTTACAGCAATTinsA (p.L1172Qfs*17) indel Pathogenic rs886037701 GRCh38 Chromosome 14, 95103871: 95103881
45 DICER1 NM_177438.2(DICER1): c.3300delA (p.K1100Nfs*44) deletion Pathogenic rs886037700 GRCh38 Chromosome 14, 95104096: 95104096
46 DICER1 NM_177438.2(DICER1): c.3277_3280delAACT (p.N1093*) deletion Pathogenic rs886037699 GRCh38 Chromosome 14, 95104116: 95104119
47 DICER1 NM_177438.2(DICER1): c.3273C> G (p.Y1091*) single nucleotide variant Pathogenic rs886037698 GRCh38 Chromosome 14, 95104123: 95104123
48 DICER1 NM_177438.2(DICER1): c.3175dupT (p.Y1059Lfs*32) duplication Pathogenic rs886037697 GRCh37 Chromosome 14, 95571502: 95571502
49 DICER1 NM_177438.2(DICER1): c.3135_3137delATCinsTGAACTCATG (p.S1046Efs*47) indel Pathogenic rs886037696 GRCh37 Chromosome 14, 95571540: 95571542
50 DICER1 NM_177438.2(DICER1): c.2888_2889delCT (p.P963Rfs*3) deletion Pathogenic rs886037695 GRCh38 Chromosome 14, 95106139: 95106140

Expression for Pleuropulmonary Blastoma

Search GEO for disease gene expression data for Pleuropulmonary Blastoma.

Pathways for Pleuropulmonary Blastoma

Pathways related to Pleuropulmonary Blastoma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 FGF10 FGF9 FGFR2 TP53
2
Show member pathways
12.62 FGF10 FGF9 FGFR2 TP53
3
Show member pathways
12.53 FGF10 FGF9 FGFR2 TP53
4 12.29 FGF10 FGF9 FGFR2
5
Show member pathways
12.24 FGF10 FGF9 FGFR2
6 12.22 FGF10 FGF9 FGFR2 TP53
7
Show member pathways
12.1 FGF10 FGF9 FGFR2
8
Show member pathways
12.1 FGF10 FGF9 FGFR2 TP53
9 12.08 FGF10 FGF9 FGFR2 SHH TP53
10
Show member pathways
12.03 FGF10 FGF9 FGFR2
11
Show member pathways
12.03 FGF10 FGF9 FGFR2
12
Show member pathways
11.83 FGF10 FGF9 FGFR2
13
Show member pathways
11.7 FGF10 FGF9 FGFR2
14
Show member pathways
11.69 FGF10 FGF9 FGFR2 SHH TP53
15 11.38 FGFR2 TP53
16 11.22 FGF10 SHH
17 11.19 FGF10 SHH

GO Terms for Pleuropulmonary Blastoma

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

(show top 50) (show all 70)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.98 FGF10 FGF9 FGFR2 SHH
2 positive regulation of gene expression GO:0010628 9.92 FGF9 SHH TP53
3 cell-cell signaling GO:0007267 9.92 FGF10 FGF9 FGFR2 SHH
4 MAPK cascade GO:0000165 9.9 FGF10 FGF9 FGFR2
5 peptidyl-tyrosine phosphorylation GO:0018108 9.87 FGF10 FGF9 FGFR2
6 positive regulation of protein kinase B signaling GO:0051897 9.86 FGF10 FGF9 FGFR2
7 angiogenesis GO:0001525 9.86 FGF10 FGF9 FGFR2 SHH
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.85 FGF10 FGF9 FGFR2
9 phosphatidylinositol phosphorylation GO:0046854 9.85 FGF10 FGF9 FGFR2
10 positive regulation of MAPK cascade GO:0043410 9.84 FGF10 FGF9 FGFR2
11 wound healing GO:0042060 9.84 FGF10 FGFR2 TP53
12 fibroblast growth factor receptor signaling pathway GO:0008543 9.81 FGF10 FGF9 FGFR2
13 positive regulation of epithelial cell proliferation GO:0050679 9.78 FGF10 FGF9 FGFR2
14 inner ear morphogenesis GO:0042472 9.77 FGF10 FGF9 FGFR2
15 determination of left/right symmetry GO:0007368 9.74 FGF10 SHH
16 negative regulation of cell differentiation GO:0045596 9.74 FGF10 SHH
17 cell fate commitment GO:0045165 9.74 FGFR2 SHH
18 odontogenesis of dentin-containing tooth GO:0042475 9.74 FGF10 SHH
19 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.74 FGF10 FGF9 FGFR2
20 negative regulation of Wnt signaling pathway GO:0030178 9.73 FGF9 SHH
21 embryonic limb morphogenesis GO:0030326 9.73 FGF9 SHH
22 thymus development GO:0048538 9.73 FGF10 SHH
23 positive regulation of cell cycle GO:0045787 9.73 FGFR2 TP53
24 embryonic skeletal system development GO:0048706 9.73 FGF9 SHH
25 limb development GO:0060173 9.73 FGF10 SHH
26 midbrain development GO:0030901 9.72 FGFR2 SHH
27 embryonic organ development GO:0048568 9.72 FGFR2 SHH
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.72 FGF9 FGFR2
29 digestive tract development GO:0048565 9.72 FGF10 FGFR2
30 positive regulation of cell division GO:0051781 9.72 FGF9 FGFR2 SHH
31 odontogenesis GO:0042476 9.71 FGFR2 SHH
32 metanephros development GO:0001656 9.71 FGF10 SHH
33 lung alveolus development GO:0048286 9.71 FGF10 FGFR2
34 branching morphogenesis of an epithelial tube GO:0048754 9.71 FGF10 SHH
35 pancreas development GO:0031016 9.71 FGF10 SHH
36 positive regulation of Wnt signaling pathway GO:0030177 9.71 FGF10 FGFR2 SHH
37 positive regulation of smoothened signaling pathway GO:0045880 9.7 FGF9 SHH
38 thyroid gland development GO:0030878 9.7 FGF10 SHH
39 regulation of smoothened signaling pathway GO:0008589 9.7 FGF10 FGFR2
40 lung morphogenesis GO:0060425 9.7 FGF10 SHH
41 embryonic digestive tract development GO:0048566 9.69 FGF10 FGF9
42 epithelial tube branching involved in lung morphogenesis GO:0060441 9.69 FGF10 SHH
43 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.68 FGF10 FGF9
44 organ growth GO:0035265 9.67 FGF10 FGFR2
45 lung epithelium development GO:0060428 9.66 FGF10 SHH
46 lacrimal gland development GO:0032808 9.65 FGF10 FGFR2
47 otic vesicle formation GO:0030916 9.65 FGF10 FGFR2
48 bud elongation involved in lung branching GO:0060449 9.65 FGF10 FGFR2
49 lung lobe morphogenesis GO:0060463 9.64 FGFR2 SHH
50 epidermis morphogenesis GO:0048730 9.64 FGF10 FGFR2

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 9.5 FGF10 FGF9 FGFR2
2 heparin binding GO:0008201 9.43 FGF10 FGF9 FGFR2
3 fibroblast growth factor receptor binding GO:0005104 9.37 FGF10 FGF9
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGF10 FGF9 FGFR2
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF10 FGF9 FGFR2
6 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF10 FGF9 FGFR2

Sources for Pleuropulmonary Blastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
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43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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