MCID: BLS003
MIFTS: 45

Blastoma malady

Rare diseases category

Summaries for Blastoma

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Disease Ontology:9 A cell type cancer that has material basis in abnormally proliferating cells derived from precursor cells called blast cells.

MalaCards based summary: Blastoma is related to pulmonary blastoma and pleuropulmonary blastoma. An important gene associated with Blastoma is DICER1 (dicer 1, ribonuclease type III), and among its related pathways are EGFR Transactivation by Gastrin and Dorso-ventral axis formation. The compounds mucicarmine and crcs have been mentioned in the context of this disorder. Affiliated tissues include lung, pituitary and thyroid, and related mouse phenotypes are tumorigenesis and limbs/digits/tail.

Wikipedia:63 A blastoma is a type of cancer, more common in children, that is caused by malignancies in precursor... more...

Aliases & Classifications for Blastoma

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Blastoma, Aliases & Descriptions:

Name: Blastoma 9 41 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:0070003

Related Diseases for Blastoma

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Diseases related to Blastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary blastoma32.6NKX2-1
2pleuropulmonary blastoma32.1DICER1, XPO5, TARBP2
3cystic nephroma31.4DICER1
4teratoma30.5NKX2-1, CGB, GFAP
5rhabdomyosarcoma30.1MYCN, TP53, VIM
6sarcoma29.7CGB, KRAS, MYCN, TP53, VIM
7retinoblastoma29.3KRAS, GFAP, TP53, EGFR, SYP, MYCN
8melanoma29.1CGB, KRAS, NKX2-1, MYCN, VIM, SERPINA1
9adenocarcinoma28.2CGB, CTNNB1, SYP, EGFR, KRAS, NKX2-1
10melanotic neuroectodermal tumor10.5SYP
11mismatch repair cancer syndrome10.5CTNNB1
12dysembryoplastic neuroepithelial tumor10.5SYP
13superior vena cava syndrome10.5CGB
14ovarian small cell carcinoma10.5TTF1
15cerebral primitive neuroectodermal tumor10.5MYCN
16gemistocytic astrocytoma10.5GFAP
17gliosarcoma10.4GFAP
18dicer1-related disorders10.4
19mixed glioma10.4GFAP
20neurilemmoma10.4GFAP
21benign mesothelioma10.4TP53, NKX2-1
22syringoma10.4GFAP
23gliomatosis cerebri10.4GFAP
24thymic carcinoma10.4SYP, NKX2-1
25classic pulmonary blastoma10.4
26pneumothorax10.4
27adenomatoid tumor10.4VIM
28acinar cell carcinoma10.4CTNNB1, SERPINA1
29dicer1-related pleuropulmonary blastoma cancer predisposition syndrome10.4
30merkel cell carcinoma10.4SYP, NKX2-1
31thyroid cancer, anaplastic10.4TP53, NKX2-1, CTNNB1
32ganglioneuroblastoma10.3SYP, MYCN
33pseudosarcomatous fibromatosis10.3VIM, CTNNB1
34subependymal giant cell astrocytoma10.3SYP, GFAP
35granular cell tumor10.3SYP, VIM
36tubular adenocarcinoma10.3SYP, CTNNB1
37pineoblastoma10.3SYP, GFAP
38glomus tumor10.3VIM, SYP
39ganglioglioma10.3SYP, GFAP
40pilocytic astrocytoma10.3SYP, GFAP
41binswanger's disease10.3GFAP, SYP
42papillary ependymoma10.3GFAP, SYP
43medulloepithelioma10.3
44pleuropulmonary blastoma type 110.3
45central neurocytoma10.3GFAP, SYP
46gallbladder cancer10.3KRAS, TP53
47choroid plexus papilloma10.3SYP, GFAP
48sex cord-gonadal stromal tumor10.3NKX2-1, VIM
49lynch syndrome10.3TP53, KRAS
50renal cell carcinoma10.3EGFR, TP53

Graphical network of the top 20 diseases related to Blastoma:



Diseases related to blastoma

Symptoms for Blastoma

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Drugs & Therapeutics for Blastoma

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Drug clinical trials:

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Genetic Tests for Blastoma

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Anatomical Context for Blastoma

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MalaCards organs/tissues related to Blastoma:

31
Lung, Pituitary, Thyroid, Fetal lung, Brain, Kidney, Ovary, Bronchial epithelium, Lymph node, Spinal cord, Liver, Testes

Animal Models for Blastoma or affiliated genes

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MGI Mouse Phenotypes related to Blastoma:

35 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.0CTNNB1, EGFR, KRAS, TP53, DICER1, NKX2-1
2MP:00053718.9KRAS, EGFR, CTNNB1, DICER1, TP53, MYCN
3MP:00011868.9CTNNB1, EGFR, TP53, KRAS
4MP:00053708.8TP53, MYCN, DICER1, EGFR, CTNNB1, KRAS
5MP:00053908.8CTNNB1, EGFR, NKX2-1, DICER1, TP53, MYCN
6MP:00030128.7MYCN, SYP, NKX2-1, EGFR, CTNNB1, TP53
7MP:00053678.7TP53, DICER1, KRAS, CTNNB1, EGFR, MYCN
8MP:00053828.7DICER1, TP53, POU1F1, MYCN, EGFR, CTNNB1
9MP:00053808.4CTNNB1, TP53, VIM, DICER1, KRAS, EGFR
10MP:00053798.4POU1F1, TP53, DICER1, NKX2-1, KRAS, EGFR
11MP:00053888.3DICER1, EGFR, TP53, VIM, MYCN, NKX2-1
12MP:00053818.3CTNNB1, NKX2-1, EGFR, KRAS, GFAP, MYCN
13MP:00053918.1EGFR, CTNNB1, KRAS, GFAP, TP53, VIM
14MP:00053698.1TP53, GFAP, VIM, MYCN, KRAS, EGFR
15MP:00028738.1KRAS, CTNNB1, EGFR, DICER1, SYP, GFAP
16MP:00053867.9KRAS, DICER1, NKX2-1, MYCN, VIM, GFAP
17MP:00053977.9MYCN, DICER1, VIM, POU1F1, TP53, KRAS
18MP:00053857.7EGFR, KRAS, NKX2-1, DICER1, MYCN, VIM
19MP:00053847.6NKX2-1, TP53, VIM, MYCN, DICER1, KRAS
20MP:00053877.3POU1F1, TP53, GFAP, EGFR, KRAS, VIM
21MP:00053767.2KRAS, NKX2-1, TP53, GFAP, MYCN, VIM
22MP:00053897.0CTNNB1, TP53, POU1F1, VIM, MYCN, DICER1
23MP:00036316.9TP53, GFAP, POU1F1, VIM, MYCN, DICER1
24MP:00053786.4POU1F1, MYCN, DICER1, NKX2-1, KRAS, TARBP2
25MP:00107686.4TP53, MYCN, VIM, POU1F1, DICER1, NKX2-1

Publications for Blastoma

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Articles related to Blastoma:

(show top 50)    (show all 366)
idTitleAuthorsYear
1
An unusual case of pleuropulmonary blastoma in a child with jejunal hamartomas. (23970988)
2013
2
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma. (23868280)
2013
3
Adult biphasic pulmonary blastoma. (23427368)
2013
4
18F-FDG PET/CT appearances of adult pulmonary blastoma. (23751833)
2013
5
Pleuropulmonary Blastoma: A Case Report. (24101356)
2013
6
Translocation t(12;17)(q24.1;q21) as the sole anomaly in a nasal chondromesenchymal hamartoma arising in a patient with pleuropulmonary blastoma. (22356457)
2012
7
Expression and mutation analysis of EGFR, c-KIT, and I^-catenin in pulmonary blastoma. (21292787)
2011
8
Pulmonary blastoma with yolk sac elements. (21045461)
2010
9
Interaction and self-organization of human mesenchymal stem cells and neuro-blastoma SH-SY5Y cells under co-culture conditions: A novel system for modeling cancer cell micro-environment. (20685331)
2010
10
Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? (20620300)
2010
11
Pulmonary blastoma in a neonate: a lesion distinct from pleuropulmonary blastoma with unique cytogenetic features. (19902198)
2010
12
Pulmonary blastoma metastatic to the ovary. (19047906)
2009
13
A familial case of pleuropulmonary blastoma. (18493897)
2008
14
Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma. (17873899)
2007
15
Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases. (17285284)
2007
16
Correction: Pleuropulmonary blastoma, not rhabdomyosarcoma in a congenital lung cyst. (16856157)
2007
17
Combined small cell carcinoma with pulmonary blastoma and adenocarcinoma: case report and clonality analysis. (17046168)
2006
18
A patient with shortness of breath and a left hilar mass. Biphasic pulmonary blastoma. (16683903)
2006
19
Type II pleuropulmonary blastoma responsive to multimodal therapy. (15770834)
2005
20
Critical presentation of pleuropulmonary blastoma. (15756566)
2005
21
A rare case of classic biphasic pulmonary blastoma. (16447486)
2005
22
Pleuropulmonary blastoma--case report of a patient presenting in a moribund state. (14768144)
2003
23
P53 gene mutations in pleuropulmonary blastomas. (11881786)
2002
24
Pulmonary blastoma. (11563261)
2001
25
Pleuropulmonary blastoma: an aggressive intrathoracic neoplasm of childhood. (11400650)
2001
26
Pulmonary blastoma: report of two cases. (11381509)
2001
27
Aggressive multimodal treatment of pleuropulmonary blastoma. (11565696)
2001
28
Extension of a pulmonary blastoma into the left atrium. (11393507)
2001
29
Pleuropulmonary blastoma in an adult: an initial case report. (10357407)
1999
30
Pulmonary blastoma: report of a case. (10483763)
1999
31
Pulmonary blastoma: diagnostic and therapeutic aspects. (10415291)
1999
32
Comparative structural study of the glial blastomas of the central nervous system]. (10668265)
1999
33
Case of extra pulmonary, pleuro-pulmonary blastoma in a child: pathological and cytogenetic findings. (9142208)
1997
34
Pleuropulmonary blastoma: a marker for familial disease. (8636815)
1996
35
Pulmonary blastoma presenting as a solitary lip metastasis: case report and review of the literature. (7552426)
1995
36
Pulmonary blastoma in an adult presenting as a chronic loculated effusion: a diagnostic problem. (8091334)
1994
37
Pulmonary blastoma--a case and review of literature. (8613168)
1994
38
Childhood pulmonary blastoma: a pleuropulmonary variant of the adult-type pulmonary blastoma. (1720893)
1991
39
Pulmonary blastoma with neuroendocrine differentiation in cell morules resembling neuroepithelial bodies. (2124206)
1990
40
Pulmonary blastoma--report of a case. (2848950)
1988
41
Computed tomography of pulmonary blastoma in a child. (2991998)
1985
42
Pulmonary blastoma. An ultrastructural study of a case and its transplanted tumor in athymic nude mice. (7417940)
1980
43
Chromosome analysis in a human hepato-blastoma cell line producing alpha-fetoprotein. (6161524)
1980
44
Pulmonary blastoma. (158135)
1979
45
Pulmonary blastoma. (199865)
1977
46
Pulmonary blastoma: A light and electron microscopic study. (974996)
1976
47
Pulmonary blastoma: report of two cases. (1126201)
1975
48
Pulmonary blastoma. (4364385)
1974
49
Pulmonary blastoma. (4355012)
1973
50
Pulmonary blastoma with diverse mesenchymal proliferation. (5075621)
1972

Variations for Blastoma

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Expression for genes affiliated with Blastoma

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Search GEO for disease gene expression data for Blastoma.

Pathways for genes affiliated with Blastoma

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Pathways related to Blastoma according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
EGFR-dependent Endothelin signaling events36
9.6EGFR, KRAS
29.6EGFR, KRAS
39.6KRAS, EGFR
4
Show member pathways
9.6KRAS, CTNNB1, TP53
59.6KRAS, TP53, CTNNB1
69.6KRAS, TP53, CTNNB1
79.5TP53, CTNNB1, EGFR
89.5TP53, EGFR, CTNNB1
99.5CTNNB1, EGFR, TP53
109.5EGFR, CTNNB1, TP53
119.4TARBP2, DICER1
12
Show member pathways
9.4KRAS, EGFR, CTNNB1
13
Show member pathways
ErbB receptor signaling network36
ErbB signaling pathway36
9.4TP53, EGFR, KRAS
14
Show member pathways
Development EGFR signaling via PIP358
Development PDGF signaling via MAPK cascades58
Apoptosis and survival Anti apoptotic action of membrane bound ESR158
Signaling of Hepatocyte Growth Factor Receptor36
Development EGFR signaling via small GTPases58
Development Neurotrophin family signaling58
Apoptosis and survival NGF signaling pathway58
Apoptosis and survival Role of CDK5 in neuronal death and survival58
9.4KRAS, TP53, EGFR
159.4TP53, KRAS, EGFR
169.4TP53, KRAS, EGFR
17
Show member pathways
9.4KRAS, EGFR, TP53
189.3SYP, NKX2-1, GFAP
199.2CTNNB1, EGFR, KRAS, TP53
209.2EGFR, TP53, CTNNB1, KRAS
21
Show member pathways
Signaling Pathways in Glioblastoma36
9.2EGFR, KRAS, TP53, CTNNB1
229.2CTNNB1, EGFR, KRAS, TP53
23
Show member pathways
9.2TP53, KRAS, CTNNB1, EGFR
24
Show member pathways
Signal transduction PTEN pathway58
9.2TP53, EGFR, KRAS, CTNNB1
259.2EGFR, CTNNB1, TP53, KRAS
26
Show member pathways
9.1TARBP2, XPO5, DICER1
278.8EGFR, VIM, DICER1, KRAS, TP53
288.7VIM, TP53, GFAP, EGFR
29
Show member pathways
8.5VIM, CTNNB1, EGFR, GFAP, TP53

Compounds for genes affiliated with Blastoma

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Compounds related to Blastoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1mucicarmine439.9VIM, NKX2-1, SYP
2crcs439.8KRAS, CTNNB1, TP53
3b 723439.8NKX2-1, VIM, SYP
4temozolomide43 1210.7EGFR, VIM, TP53
5cetuximab43 49 1211.7CTNNB1, KRAS, EGFR
6adriamycin439.6MYCN, TP53, VIM, CTNNB1
7vincristine43 49 1211.6CGB, VIM, TP53, MYCN
8s 100439.6VIM, SYP, GFAP
9reticulin439.6SYP, VIM, GFAP
10mg 13243 5910.5EGFR, MYCN, TP53, CTNNB1
11dutp439.5TP53, SYP, GFAP
12bcnu439.5EGFR, TP53, GFAP
13gefitinib43 49 1211.4CTNNB1, KRAS, EGFR, VIM
14etoposide43 49 59 1212.4VIM, CGB, SYP, MYCN, TP53
15hematoxylin439.4GFAP, VIM, SYP, NKX2-1
16gnrh439.3VIM, NKX2-1, CGB, CTNNB1
17dbc-amp439.3MYCN, VIM, GFAP, SYP
18retinoid439.2CTNNB1, TP53, VIM, MYCN, EGFR
19bromodeoxyuridine439.2GFAP, CTNNB1, MYCN, VIM
20formaldehyde43 2410.2VIM, SYP, NKX2-1, GFAP
21doxorubicin43 49 1211.2EGFR, VIM, MYCN, CTNNB1, TP53
225fluorouracil439.2TP53, KRAS, EGFR, CTNNB1
23leucovorin43 49 1211.1CGB, KRAS, EGFR
24butyrate439.0TP53, VIM, KRAS, CTNNB1, GFAP
25h2o2438.9KRAS, TP53, SERPINA1, VIM, SYP, CTNNB1
26agar438.9VIM, MYCN, CTNNB1, GFAP, EGFR
27acth438.8POU1F1, SERPINA1, GFAP, SYP
28phosphoinositide438.8KRAS, CTNNB1, VIM, POU1F1, EGFR
29forskolin43 49 1210.7POU1F1, SYP, VIM, GFAP, NKX2-1
30dopamine43 28 24 1211.7GFAP, MYCN, POU1F1, CTNNB1, SYP
31creatinine438.7CGB, SYP, VIM, SERPINA1, GFAP
32thymidine43 249.7POU1F1, GFAP, TP53, CTNNB1, SERPINA1
33glutamine438.7GFAP, CTNNB1, SYP, VIM, POU1F1
34cycloheximide438.6MYCN, EGFR, CTNNB1, TP53, GFAP, VIM
35genistein43 28 59 2 24 1213.6GFAP, EGFR, CTNNB1, MYCN, SYP, VIM
36testosterone43 59 24 1211.6EGFR, CTNNB1, CGB, SYP, VIM, GFAP
37cyclic amp43 249.6GFAP, POU1F1, VIM, SYP, NKX2-1, CGB
38paclitaxel43 49 1210.6GFAP, TP53, VIM, KRAS, EGFR, CTNNB1
39dexamethasone43 49 28 1211.5CTNNB1, NKX2-1, POU1F1, VIM, GFAP, SYP
40leucine438.4VIM, GFAP, MYCN, POU1F1, SYP
41oligonucleotide438.2CTNNB1, TP53, SERPINA1, POU1F1, VIM, MYCN
42cysteine438.2SYP, CTNNB1, CGB, SERPINA1, GFAP, VIM
43cisplatin43 49 59 1211.1GFAP, CGB, CTNNB1, EGFR, KRAS, SYP
44vegf437.7CGB, GFAP, TP53, VIM, MYCN, SYP
45tyrosine437.5NKX2-1, CTNNB1, SYP, MYCN, EGFR, POU1F1
46paraffin437.4TP53, KRAS, SERPINA1, VIM, MYCN, SYP
47serine437.4GFAP, MYCN, SYP, SERPINA1, VIM, NKX2-1
48progesterone43 28 59 24 1211.3SYP, GFAP, NKX2-1, EGFR, CTNNB1, CGB
49retinoic acid43 248.2GFAP, TP53, POU1F1, VIM, MYCN, SYP
50estrogen436.9TP53, GFAP, SERPINA1, POU1F1, VIM, SYP

GO Terms for genes affiliated with Blastoma

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Cellular components related to Blastoma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RISC complexGO:00164429.4DICER1, TARBP2
2nucleoplasmGO:00056548.9TP53, TTF1, XPO5, CTNNB1, NKX2-1
3cytosolGO:00058297.5DICER1, CTNNB1, GFAP, TP53, VIM, TARBP2
4nucleusGO:00056346.5CTNNB1, EGFR, TARBP2, XPO5, NKX2-1, MYCN
5cytoplasmGO:00057376.4TARBP2, EGFR, XPO5, VIM, POU1F1, TP53

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1epithelial tube branching involved in lung morphogenesisGO:006044110.2CTNNB1, NKX2-1
2negative regulation of reactive oxygen species metabolic processGO:0200037810.2MYCN, TP53
3cerebral cortex cell migrationGO:002179510.1EGFR, NKX2-1
4regulation of long-term neuronal synaptic plasticityGO:004816910.0SYP, KRAS
5branching morphogenesis of an epithelial tubeGO:004875410.0DICER1, MYCN
6determination of adult lifespanGO:00083409.9POU1F1, TP53
7hair follicle morphogenesisGO:00310699.9CTNNB1, DICER1
8cell fate specificationGO:00017089.9CTNNB1, POU1F1
9negative regulation of DNA replicationGO:00081569.8TP53, TTF1
10Bergmann glial cell differentiationGO:00600209.8GFAP, VIM
11targeting of mRNA for destruction involved in RNA interferenceGO:00304239.8DICER1, TARBP2
12production of siRNA involved in RNA interferenceGO:00304229.7TARBP2, DICER1
13pre-miRNA processingGO:00310549.7TARBP2, DICER1
14astrocyte developmentGO:00140029.7VIM, GFAP
15intermediate filament organizationGO:00451099.7GFAP, VIM
16lung developmentGO:00303249.6NKX2-1, EGFR, DICER1, MYCN
17positive regulation of transcription, DNA-templatedGO:00458939.3TP53, POU1F1, CTNNB1, NKX2-1
18negative regulation of transcription from RNA polymerase II promoterGO:00001229.3NKX2-1, CTNNB1, DICER1, TP53, POU1F1
19apoptotic processGO:00069159.3CTNNB1, CGB, VIM, TP53
20negative regulation of neuron projection developmentGO:00109779.1GFAP, VIM
21positive regulation of transcription from RNA polymerase II promoterGO:00459448.6EGFR, CTNNB1, NKX2-1, DICER1, MYCN, POU1F1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1protein phosphatase bindingGO:00199039.6TP53, EGFR, CTNNB1
2protein complex bindingGO:00324039.6SYP, CTNNB1, KRAS
3transcription regulatory region DNA bindingGO:00442129.5CTNNB1, NKX2-1, TP53
4miRNA bindingGO:00351989.4DICER1, TARBP2
5double-stranded RNA bindingGO:00037259.1VIM, DICER1, TARBP2
6identical protein bindingGO:00428028.9EGFR, SYP, VIM, SERPINA1, TP53
7sequence-specific DNA binding transcription factor activityGO:00037008.8CTNNB1, TP53, POU1F1, MYCN, NKX2-1
8chromatin bindingGO:00036828.7CTNNB1, EGFR, POU1F1, TP53, TTF1
9protein bindingGO:00055156.6TP53, SERPINA1, VIM, MYCN, DICER1, NKX2-1

Products for genes affiliated with Blastoma

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Sources for Blastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet