MCID: NRB001
MIFTS: 68

Neuroblastoma malady

Genetic diseases, Rare diseases, Neuronal diseases, Cancer diseases categories

Summaries for Neuroblastoma

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OMIM:45 Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all... (256700) more...

MalaCards based summary: Neuroblastoma, also known as neural crest tumor, is related to adrenal neuroblastoma and embryonal rhabdomyosarcoma, and has symptoms including neoplasm of the nervous system, autosomal dominant inheritance and abnormality of the thorax. An important gene associated with Neuroblastoma is KIF1B (kinesin family member 1B). The drugs cyclophosphamide and etoposide and the compounds paraffin and doxorubicin have been mentioned in the context of this disorder. Affiliated tissues include bone, adrenal gland and skin.

Disease Ontology:9 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.

NIH Rare Diseases:41 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

MedlinePlus:32 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:63 Neuroblastoma (NB) is the most common extracranial solid cancer in childhood and the most common cancer... more...

Aliases & Classifications for Neuroblastoma

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 32MedlinePlus, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Neuroblastoma, Aliases & Descriptions:

Name: Neuroblastoma 45 9 10 41 21 11 47 22 32 60
Neural Crest Tumor 41 47 60
Sympathoblastoma 41 47
 
Neuroblastoma 1 45 22
Nb 41 21
Central Neuroblastoma 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
neuroblastoma:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM45 256700
Disease Ontology9 DOID:769
NCIt38 C3270
MeSH33 D009447
Orphanet47 635
MESH via Orphanet34 D009447, C536408
ICD10 via Orphanet26 C47
UMLS via Orphanet61 C0027819, C2931189

Related Diseases for Neuroblastoma

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Diseases in the Neuroblastoma family:

Neuroblastoma 3 Neuroblastoma 2

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

(show top 50)    (show all 291)
idRelated DiseaseScoreTop Affiliating Genes
1adrenal neuroblastoma32.1PHOX2B, MYCN
2embryonal rhabdomyosarcoma31.0MYCN, ALK
3leukemia30.9NME1, ALK, TOP2A, MYCN, TP73
4retinoblastoma30.9NME1, TOP2A, MYCN, TP73
5glioblastoma30.8ALK, TOP2A, MYCN, TP73
6lung cancer30.8NME1, TP73, TOP2A
7wilms tumor30.7TOP2A, TP73, MYCN
8tongue squamous cell carcinoma30.3NME1, TP73
9breast cancer30.3NME1, TP73, MYCN, TOP2A
10neurofibroma30.0TP73, TOP2A
11olfactory neuroblastoma11.0
12neuronitis10.8
13differentiating neuroblastoma10.7
14cerebral neuroblastoma10.7
15cerebritis10.7
16ganglioneuroma10.7
17hypoxia10.6
18ganglioneuroblastoma10.6
19rhabdomyosarcoma 2, alveolar10.6MYCN, ALK
20nijmegen breakage syndrome10.6
21burkitt lymphoma10.6ALK, TP73
22peripheral t-cell lymphoma10.5ALK, NME1
23brain cancer10.5MYCN, TP73, ALK
24cervical intraepithelial neoplasia10.5TP73, NME1
25cervical neuroblastoma10.5
26cervicitis10.5
27insulin-like growth factor i10.5
28endotheliitis10.5
29prostate adenocarcinoma10.5
30pheochromocytoma10.5
31sarcoma10.5
32retroperitoneal neuroblastoma10.4
33astrocytoma10.4
34rhabdomyosarcoma10.4
35myoclonus10.4
36hiv-110.4
37neuroectodermal tumor10.4
38melanoma10.4
39phaeochromocytoma10.3
40thyroiditis10.3
41teratoma10.3
42neuropathy10.3
43hematologic cancer10.3TOP2A, ALK, TP73
44neuroblastoma 210.2
45hepatitis10.2
46meningioma, familial10.2TP73, TOP2A
47obesity10.2
48diarrhea10.2
49neuroblastoma 310.2
50beckwith-wiedemann syndrome10.2

Graphical network of the top 20 diseases related to Neuroblastoma:



Diseases related to neuroblastoma

Symptoms for Neuroblastoma

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Symptoms by clinical synopsis from OMIM:

256700

Clinical features from OMIM:

256700

Symptoms:

 47
  • organic acid metabolism anomalies
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance

HPO human phenotypes related to Neuroblastoma:

(show all 26)
id Description Frequency HPO Source Accession
1 neoplasm of the nervous system hallmark (90%) HP:0004375
2 autosomal dominant inheritance HP:0000006
3 abnormality of the thorax HP:0000765
4 hypertension HP:0000822
5 ataxia HP:0001251
6 myoclonus HP:0001336
7 heterogeneous HP:0001425
8 failure to thrive HP:0001508
9 weight loss HP:0001824
10 anemia HP:0001903
11 fever HP:0001945
12 diarrhea HP:0002014
13 abdominal pain HP:0002027
14 spinal cord compression HP:0002176
15 horner syndrome HP:0002277
16 bone pain HP:0002653
17 ganglioneuroma HP:0003005
18 neuroblastoma HP:0003006
19 sporadic HP:0003745
20 incomplete penetrance HP:0003829
21 ganglioneuroblastoma HP:0006747
22 opsoclonus HP:0010543
23 elevated urinary homovanillic acid HP:0011977
24 elevated urinary vanillylmandelic acid HP:0011978
25 elevated urinary dopamine HP:0011979
26 skin nodule HP:0200036

Drugs & Therapeutics for Neuroblastoma

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Genetic Tests for Neuroblastoma

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Genetic tests related to Neuroblastoma:

id Genetic test Affiliating Genes
1 Neuroblastoma 122
2 Neuroblastoma22

Anatomical Context for Neuroblastoma

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MalaCards organs/tissues related to Neuroblastoma:

31
Bone, Adrenal gland, Skin, Testes, Eye, Kidney, Liver, Bone marrow, Spinal cord, Brain, Endothelial, Lung, Pituitary, Thyroid, T cells, 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 4318)
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
Akt2 regulates metastatic potential in neuroblastoma. (23468863)
2013
6
Estradiol and testosterone regulate arginine-vasopressin expression in SH-SY5Y human female neuroblastoma cells through estrogen receptors-I+ and -I^. (23584859)
2013
7
Reply: Comment on 'Quiescence and yH2AX in neuroblastoma are regulated by ouabain/Na,K-ATPase': ouabain and cancer. (23681184)
2013
8
Adenovirus arming human IL-24 inhibits neuroblastoma cell proliferation in vitro and xenograft tumor growth in vivo. (23609032)
2013
9
The protective effect of geniposide on human neuroblastoma cells in the presence of formaldehyde. (23815892)
2013
10
Novel synthetic monoketone transmute radiation-triggered NFI_B-dependent TNFI+ cross-signaling feedback maintained NFI_B and favors neuroblastoma regression. (23967300)
2013
11
Oncogenic mutations of ALK in neuroblastoma. (21205076)
2011
12
Neuroblastoma cell proliferation is sensitive to changes in levels of RUNX1 and RUNX3 protein. (21640801)
2011
13
Expression of the neuron-specific protein CHD5 is an independent marker of outcome in neuroblastoma. (20950435)
2010
14
2p24 Gain region harboring MYCN gene compared with MYCN amplified and nonamplified neuroblastoma: biological and clinical characteristics. (20395439)
2010
15
Genes involved in regulation of stem cell properties: studies on their expression in a small cohort of neuroblastoma patients. (19458492)
2009
16
The cytologic features of sinonasal undifferentiated carcinoma and olfactory neuroblastoma. (18285258)
2008
17
Small-interfering-RNA-mediated silencing of human glutamate dehydrogenase induces apoptosis in neuroblastoma cells. (18248328)
2008
18
Prospective tracing of MLL-FRYL clone with low MEIS1 expression from emergence during neuroblastoma treatment to diagnosis of myelodysplastic syndrome. (18195096)
2008
19
Selenium protects the hypoxia induced apoptosis in neuroblastoma cells through upregulation of Bcl-2. (18405886)
2008
20
HOXC6 and HOXC11 increase transcription of S100beta gene in BrdU-induced in vitro differentiation of GOTO neuroblastoma cells into Schwannian cells. (17488478)
2007
21
Nicotine regulates SH-SY5Y neuroblastoma cell proliferation through the release of brain-derived neurotrophic factor. (16790237)
2006
22
No evidence for involvement of SDHD in neuroblastoma pathogenesis. (15331017)
2004
23
Congenital cervical neuroblastoma. (15390353)
2004
24
Germline PHOX2B mutation in hereditary neuroblastoma. (15338462)
2004
25
Basic helix-loop-helix proteins bind to TrkB and p21(Cip1) promoters linking differentiation and cell cycle arrest in neuroblastoma cells. (15024057)
2004
26
Methylation-associated silencing of the thrombospondin-1 gene in human neuroblastoma. (14559817)
2003
27
Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma. (12888911)
2003
28
5'-aminoimidazole-4-carboxamide riboside induces apoptosis in human neuroblastoma cells. (12654334)
2003
29
GADD153 and 12-lipoxygenase mediate fenretinide-induced apoptosis of neuroblastoma. (12234979)
2002
30
Synergistic effect of retinoic acid and dehydroepiandrosterone on differentiation of human neuroblastoma cells. (12459481)
2002
31
Characterization of distinct apoptotic changes induced by okadaic acid and yessotoxin in the BE(2)-M17 neuroblastoma cell line. (11812636)
2002
32
MycN sensitizes neuroblastoma cells for drug-triggered apoptosis. (11107122)
2000
33
Posterior mediastinal capillary hemangioma with extradural extension resembling neuroblastoma. (10398787)
1999
34
Cilostazol, a cyclic AMP phosphodiesterase inhibitor, stimulates nitric oxide production and sodium potassium adenosine triphosphatase activity in SH-SY5Y human neuroblastoma cells. (10503960)
1999
35
Molecular dissection of the Rho-associated protein kinase (p160ROCK)-regulated neurite remodeling in neuroblastoma N1E-115 cells. (9647654)
1998
36
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
37
Expression of CD44 isoforms in neuroblastoma cells is regulated by PI 3-kinase and protein kinase C. (9190898)
1997
38
Identification and characterization of a retinoic acid-regulated human homologue of the unc-33-like phosphoprotein gene (hUlip) from neuroblastoma cells. (9115293)
1997
39
Intracranial route of a cervical neuroblastoma through skull base foramina. (8805602)
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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1ALKNM_004304.4(ALK): c.3824G> A (p.Arg1275Gln)single nucleotide variantPathogenic, risk factorrs113994087GRCh37Chr 2, 29432664: 29432664
2ALKNM_004304.4(ALK): c.3383G> C (p.Gly1128Ala)single nucleotide variantPathogenic, risk factorrs113994088GRCh37Chr 2, 29445450: 29445450
3ALKNM_004304.4(ALK): c.3575G> C (p.Arg1192Pro)single nucleotide variantPathogenic, risk factorrs113994089GRCh37Chr 2, 29443642: 29443642
4ALKNM_004304.4(ALK): c.3452C> T (p.Thr1151Met)single nucleotide variantPathogenic, risk factorrs113994091GRCh37Chr 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
7KIF1BNM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn)single nucleotide variantPathogenic, risk factorrs121908164GRCh37Chr 1, 10425534: 10425534
8PHOX2BNM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu)single nucleotide variantrisk factorrs104893855GRCh37Chr 4, 41749496: 41749496
9PHOX2BNM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp)single nucleotide variantrisk factorrs104893856GRCh37Chr 4, 41748179: 41748179
10ALKNM_004304.4(ALK): c.3520T> G (p.Phe1174Val)single nucleotide variantPathogenicrs281864719GRCh37Chr 2, 29443697: 29443697
11ALKNM_004304.4(ALK): c.3733T> G (p.Phe1245Val)single nucleotide variantPathogenicrs281864720GRCh37Chr 2, 29436860: 29436860

Expression for genes affiliated with Neuroblastoma

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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 Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1paraffin4310.8ALK, MYCN, TOP2A, NME1, TP73
2doxorubicin43 49 1212.8TOP2A, ALK, MYCN, TP73
3vincristine43 49 1212.7TP73, MYCN, TOP2A
4p0024310.7TP73, TOP2A, NME1
5adriamycin4310.7TP73, TOP2A, MYCN
6cisplatin43 49 59 1213.6TP73, MYCN, TOP2A, NME1
7tyrosine4310.6NME1, ALK, PHOX2B, TOP2A, MYCN, TP73
817-(allylamino)-17-demethoxygeldanamycin4310.5NME1, ALK
95fluorouracil4310.4TOP2A, TP73, NME1
10chloramphenicol43 2 49 1213.2TOP2A, MYCN, TP73

GO Terms for genes affiliated with Neuroblastoma

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

idNameGO IDScoreTop Affiliating Genes
1hippocampus developmentGO:002176610.5NME1, TP73
2neuron developmentGO:004866610.2ALK, TP73

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II regulatory region sequence-specific DNA bindingGO:000097710.5PHOX2B, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet