NB
MCID: NRB001
MIFTS: 70

Neuroblastoma (NB) malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases categories
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Summaries for Neuroblastoma

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NIH Rare Diseases:42 Neuroblastoma is a tumor that develops from a nerve in a child, usually before the age of 5.  it occurs in the abdomen near the adrenal glands, but it can also occur in other parts of the body.  it is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes).  the symptoms of a neuroblastoma may include a lump in the abdomen, pain, diarrhea, or generally feeling unwell.  it affects one out of 100,000 children.  the exact cause of this tumor is not yet known.  neuroblastoma may be diagnosed by physical examination; specific blood tests; imaging tests such as x-rays, magnetic resonance imaging (mri), or computed tomography (ct) scans; and a biopsy.  treatment depends on the size and location of the tumor within the body, as well as the child’s age. surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases. last updated: 10/7/2011

MalaCards based summary: Neuroblastoma, also known as neural crest tumor, is related to adrenal neuroblastoma and embryonal rhabdomyosarcoma, and has symptoms including organic acid metabolism anomalies, central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer and autosomal dominant inheritance. An important gene associated with Neuroblastoma is NME1 (NME/NM23 nucleoside diphosphate kinase 1). The compounds paraffin and doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, bone and testes.

Disease Ontology:8 An autonomic nervous system neoplasm that derives from immature nerve cells.

Genetics Home Reference:21 Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.

MedlinePlus:33 Neuroblastoma is a cancer that forms in your nerve tissue. it usually begins in the adrenal glands, which sit atop your kidneys. it may also begin in your neck, chest or spinal cord. the cancer often begins in early childhood. sometimes it begins before a child is born. by the time doctors find the cancer, it has usually spread to other parts of the body. the most common symptoms are a lump in the abdomen, neck or chest bulging eyes dark circles around the eyes bone pain swollen stomach and trouble breathing in babies painless, bluish lumps under the skin in babies inability to move a body part treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. biologic therapy boosts your body's own ability to fight cancer. sometimes before giving treatment, doctors wait to see whether symptoms get worse. this is called watchful waiting. nih: national cancer institute

Wikipedia:65 Neuroblastoma (NB) is the most common extracranial solid cancer in childhood and the most common cancer... more...

Descriptions from OMIM:46 256700, 613013, 613014, 613015, 613016 613017 more

Aliases & Classifications for Neuroblastoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 33MedlinePlus, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Neuroblastoma, Aliases & Descriptions:

Name: Neuroblastoma 8 9 42 22 21 46 10 48 33
Neural Crest Tumor 48 62
Nb 42 21
 
Central Neuroblastoma 62
Sympathoblastoma 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
neuroblastoma:
Inheritance: Sporadic; Prevalence: 1-5/10000; Age of onset: Childhood; Age of death: Child / adolescent


External Ids:

Disease Ontology8 DOID:769
MeSH34 D009447
NCIt39 C3270
MESH via Orphanet35 D009447, C536408
ICD10 via Orphanet26 C47
UMLS via Orphanet63 C0027819, C2931189

Related Diseases for Neuroblastoma

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Diseases in the Neuroblastoma family:

Neuroblastoma 1 Neuroblastoma 6
Neuroblastoma 3 Neuroblastoma 5
Neuroblastoma 2 Neuroblastoma 4

Diseases related to Neuroblastoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 307)
idRelated DiseaseScoreTop Affiliating Genes
1adrenal neuroblastoma32.1MYCN, PHOX2B
2embryonal rhabdomyosarcoma31.0ALK, MYCN
3leukemia30.9NME1, ALK, TOP2A, MYCN, TP73
4retinoblastoma30.9NME1, TOP2A, MYCN, TP73
5glioblastoma30.8ALK, TOP2A, MYCN, TP73
6lung cancer30.7TP73, MYCN, TOP2A, ALK, NME1
7wilms tumor30.7TP73, MYCN, TOP2A
8alveolar rhabdomyosarcoma30.6ALK, MYCN
9burkitt's lymphoma30.6TP73, ALK
10meningioma30.3TP73, TOP2A
11breast cancer30.3NME1, TOP2A, MYCN, TP73
12neurofibroma30.0TP73, TOP2A
13non-hodgkin lymphoma29.9MYCN, TOP2A, ALK
14acute lymphoblastic leukemia29.9TOP2A, MYCN, TP73
15ovarian cancer29.8TP73, MYCN, TOP2A, NME1
16olfactory neuroblastoma11.0
17neuronitis10.8
18differentiating neuroblastoma10.7
19cerebral neuroblastoma10.7
20cerebritis10.7
21ganglioneuroma10.7
22ganglioneuroblastoma10.6
23hypoxia10.6
24nijmegen breakage syndrome10.6
25peripheral t-cell lymphoma10.5ALK, NME1
26brain cancer10.5TP73, MYCN, ALK
27cervical intraepithelial neoplasia10.5NME1, TP73
28prostate adenocarcinoma10.5
29cervical neuroblastoma10.5
30cervicitis10.5
31endotheliitis10.5
32pheochromocytoma10.5
33sarcoma10.4
34nephroblastoma10.4
35retroperitoneal neuroblastoma10.4
36tongue squamous cell carcinoma10.4TP73, NME1
37rhabdomyosarcoma10.4
38astrocytoma10.4
39neuroepithelioma10.4
40neuroblastoma 110.4
41vitiligo10.4
42neuroectodermal tumor10.4
43melanoma10.4
44myoclonus10.4
45hiv-110.3
46phaeochromocytoma10.3
47alzheimer's disease10.3
48neuropathy10.3
49thyroiditis10.3
50teratoma10.3

Graphical network of the top 20 diseases related to Neuroblastoma:



Diseases related to neuroblastoma

Symptoms for Neuroblastoma

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Clinical features from OMIM:

256700,613013,613014,613015,613016,613017

Symptoms:

48
  • organic acid metabolism anomalies
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance

HPO human phenotypes related to Neuroblastoma:

id Description Frequency HPO Source Accession
1 neoplasm of the nervous system hallmark (90%) HP:0004375

Drugs & Therapeutics for Neuroblastoma

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Drug clinical trials:

Search ClinicalTrials for Neuroblastoma

Search NIH Clinical Center for Neuroblastoma

Genetic Tests for Neuroblastoma

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Genetic tests related to Neuroblastoma:

id Genetic test Affiliating Genes
1 Neuroblastoma22

Anatomical Context for Neuroblastoma

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MalaCards organs/tissues related to Neuroblastoma:

32
Adrenal gland, Bone, Testes, Eye, Kidney, Skin, Liver, Bone marrow, Brain, Spinal cord, Endothelial, Pituitary, Lung, T cells, Thyroid, Lymph node, Breast, Monocytes, Nk cells, Colon, Prostate, Salivary gland, Cerebellum, Smooth muscle, Ovary, Fetal brain, Neutrophil, Heart, Skeletal muscle, Pancreas, Uterus, Placenta, Testis, Myeloid, B cells, Parietal lobe, Dorsal root ganglion

Animal Models for Neuroblastoma or affiliated genes

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Publications for Neuroblastoma

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Articles related to Neuroblastoma:

(show top 50)    (show all 4287)
idTitleAuthorsYear
1
The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells. (23246602)
2013
2
In vitro approaches to evaluate toxicity induced by organotin compounds tributyltin (TBT), dibutyltin (DBT), and monobutyltin (MBT) in neuroblastoma cells. (23534342)
2013
3
Copper(II) mixed chelate compounds induce apoptosis through reactive oxygen species in neuroblastoma cell line CHP-212. (23727332)
2013
4
Neuroblastoma in Iran: an experience of 32 years at a referral childrens hospital. (23803024)
2013
5
Estradiol and testosterone regulate arginine-vasopressin expression in SH-SY5Y human female neuroblastoma cells through estrogen receptors-I+ and -I^. (23584859)
2013
6
Reply: Comment on 'Quiescence and yH2AX in neuroblastoma are regulated by ouabain/Na,K-ATPase': ouabain and cancer. (23681184)
2013
7
Adenovirus arming human IL-24 inhibits neuroblastoma cell proliferation in vitro and xenograft tumor growth in vivo. (23609032)
2013
8
The protective effect of geniposide on human neuroblastoma cells in the presence of formaldehyde. (23815892)
2013
9
Novel synthetic monoketone transmute radiation-triggered NFI_B-dependent TNFI+ cross-signaling feedback maintained NFI_B and favors neuroblastoma regression. (23967300)
2013
10
Oncogenic mutations of ALK in neuroblastoma. (21205076)
2011
11
Neuroblastoma cell proliferation is sensitive to changes in levels of RUNX1 and RUNX3 protein. (21640801)
2011
12
Expression of the neuron-specific protein CHD5 is an independent marker of outcome in neuroblastoma. (20950435)
2010
13
2p24 Gain region harboring MYCN gene compared with MYCN amplified and nonamplified neuroblastoma: biological and clinical characteristics. (20395439)
2010
14
Genes involved in regulation of stem cell properties: studies on their expression in a small cohort of neuroblastoma patients. (19458492)
2009
15
The cytologic features of sinonasal undifferentiated carcinoma and olfactory neuroblastoma. (18285258)
2008
16
Small-interfering-RNA-mediated silencing of human glutamate dehydrogenase induces apoptosis in neuroblastoma cells. (18248328)
2008
17
Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome. (18195096)
2008
18
Selenium protects the hypoxia induced apoptosis in neuroblastoma cells through upregulation of Bcl-2. (18405886)
2008
19
HOXC6 and HOXC11 increase transcription of S100beta gene in BrdU-induced in vitro differentiation of GOTO neuroblastoma cells into Schwannian cells. (17488478)
2007
20
Nicotine regulates SH-SY5Y neuroblastoma cell proliferation through the release of brain-derived neurotrophic factor. (16790237)
2006
21
No evidence for involvement of SDHD in neuroblastoma pathogenesis. (15331017)
2004
22
Congenital cervical neuroblastoma. (15390353)
2004
23
Germline PHOX2B mutation in hereditary neuroblastoma. (15338462)
2004
24
Basic helix-loop-helix proteins bind to TrkB and p21(Cip1) promoters linking differentiation and cell cycle arrest in neuroblastoma cells. (15024057)
2004
25
Methylation-associated silencing of the thrombospondin-1 gene in human neuroblastoma. (14559817)
2003
26
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (12888911)
2003
27
5'-aminoimidazole-4-carboxamide riboside induces apoptosis in human neuroblastoma cells. (12654334)
2003
28
GADD153 and 12-lipoxygenase mediate fenretinide-induced apoptosis of neuroblastoma. (12234979)
2002
29
Synergistic effect of retinoic acid and dehydroepiandrosterone on differentiation of human neuroblastoma cells. (12459481)
2002
30
Characterization of distinct apoptotic changes induced by okadaic acid and yessotoxin in the BE(2)-M17 neuroblastoma cell line. (11812636)
2002
31
MycN sensitizes neuroblastoma cells for drug-triggered apoptosis. (11107122)
2000
32
Posterior mediastinal capillary hemangioma with extradural extension resembling neuroblastoma. (10398787)
1999
33
Cilostazol, a cyclic AMP phosphodiesterase inhibitor, stimulates nitric oxide production and sodium potassium adenosine triphosphatase activity in SH-SY5Y human neuroblastoma cells. (10503960)
1999
34
Molecular dissection of the Rho-associated protein kinase (p160ROCK)-regulated neurite remodeling in neuroblastoma N1E-115 cells. (9647654)
1998
35
Different voltage-gated sodium currents are expressed by human neuroblastoma NB69 cells when cultured in defined serum-free and in astroglial-conditioned media. (9034832)
1997
36
Expression of CD44 isoforms in neuroblastoma cells is regulated by PI 3-kinase and protein kinase C. (9190898)
1997
37
Identification and characterization of a retinoic acid-regulated human homologue of the unc-33-like phosphoprotein gene (hUlip) from neuroblastoma cells. (9115293)
1997
38
Intracranial route of a cervical neuroblastoma through skull base foramina. (8805602)
1996
39
Determinants of the stimulatory opioid effect on intracellular calcium in SK-N-SH and NG108-15 neuroblastoma. (8813369)
1996
40
Regulation of corticotropin-releasing factor secretion and synthesis in the human neuroblastoma clones- BE(2)-M17 and BE(2)-C. (7550293)
1995
41
Expression of stem cell factor and c-kit in human neuroblastoma. The Children's Cancer Group. (7524740)
1994
42
Equivalent regulation of wild type and an epitope-tagged variant of Gs alpha by the IP prostanoid receptor following expression in neuroblastoma x glioma hybrid, NG108-15, cells. (7525345)
1994
43
Olfactory neuroblastoma. (1497735)
1992
44
Carbachol enhances forskolin-stimulated cyclic AMP accumulation via activation of calmodulin system in human neuroblastoma SH-SY5Y cells. (1712584)
1991
45
Olfactory neuroblastoma: report of a case and review of the literature. (2651629)
1989
46
Olfactory neuroblastoma: presentation of a case and review of the Japanese literature. (6694503)
1984
47
Pigmented olfactory neuroblastoma: a new example of melanotic neuroepithelial neoplasm. (7074529)
1982
48
Biological characterization of the C-1300 murine neuroblastoma: an in vivo neural crest tumor model. (7105037)
1982
49
Calcification in retroperitoneal neuroblastoma; report of three cases with tuberculoid reaction in one case. (15402771)
1950
50
Multiple tumors of the sympathetic nervous system: Report of a case showing a distinct ganglioneuroma, a neuroblastoma and a cystic calcifying ganglioneuroblastoma. (19970419)
1938

Variations for Neuroblastoma

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Clinvar genetic disease variations for Neuroblastoma:

6
id Gene Name Type Significance SNP ID Assembly Location
1ALKNM_004304.4(ALK): c.3824G> A (p.Arg1275Gln)single nucleotide variantPathogenicrs113994087GRCh37Chr 2, 29432664: 29432664
2ALKNM_004304.4(ALK): c.3383G> C (p.Gly1128Ala)single nucleotide variantPathogenicrs113994088GRCh37Chr 2, 29445450: 29445450
3ALKNM_004304.4(ALK): c.3575G> C (p.Arg1192Pro)single nucleotide variantPathogenicrs113994089GRCh37Chr 2, 29443642: 29443642
4ALKNM_004304.4(ALK): c.3452C> T (p.Thr1151Met)single nucleotide variantPathogenicrs113994091GRCh37Chr 2, 29445273: 29445273
5ALKNM_004304.4(ALK): c.3260C> T (p.Thr1087Ile)single nucleotide variantPathogenicrs113994090GRCh37Chr 2, 29446307: 29446307
6ALKNM_004304.4(ALK): c.3749T> C (p.Ile1250Thr)single nucleotide variantPathogenicrs113994092GRCh37Chr 2, 29432739: 29432739
7PHOX2BNM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu)single nucleotide variantrisk factorrs104893855GRCh37Chr 4, 41749496: 41749496
8PHOX2BNM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp)single nucleotide variantrisk factorrs104893856GRCh37Chr 4, 41748179: 41748179
9ALKNM_004304.4(ALK): c.3520T> G (p.Phe1174Val)single nucleotide variantPathogenicrs281864719GRCh37Chr 2, 29443697: 29443697
10ALKNM_004304.4(ALK): c.3733T> G (p.Phe1245Val)single nucleotide variantPathogenicrs281864720GRCh37Chr 2, 29436860: 29436860

Expression for genes affiliated with Neuroblastoma

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Expression patterns in normal tissues for genes affiliated with Neuroblastoma

Search GEO for disease gene expression data for Neuroblastoma.

Pathways for genes affiliated with Neuroblastoma

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Compounds for genes affiliated with Neuroblastoma

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Compounds related to Neuroblastoma according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1paraffin4410.8NME1, ALK, TOP2A, MYCN, TP73
2doxorubicin44 50 1112.7TP73, MYCN, TOP2A, ALK
3vincristine44 50 1112.7TP73, MYCN, TOP2A
4p0024410.7NME1, TOP2A, TP73
5adriamycin4410.6TOP2A, MYCN, TP73
6cisplatin44 50 61 1113.6TP73, MYCN, TOP2A, NME1
7tyrosine4410.6PHOX2B, NME1, ALK, TOP2A, MYCN, TP73
817-(allylamino)-17-demethoxygeldanamycin4410.5NME1, ALK
95fluorouracil4410.4TP73, TOP2A, NME1
10chloramphenicol44 2 50 1113.2TOP2A, MYCN, TP73

GO Terms for genes affiliated with Neuroblastoma

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Cellular components related to Neuroblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00573710.6UBE4B, NME1, LIN28B, NBPF10, NBPF12, NBPF15

Biological processes related to Neuroblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hippocampus developmentGO:02176610.5NME1, TP73
2neuron developmentGO:04866610.2ALK, TP73

Molecular functions related to Neuroblastoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:00097710.5PHOX2B, NME1

Products for genes affiliated with Neuroblastoma

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Sources for Neuroblastoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet