MCID: NRB015
MIFTS: 24

Neuroblastoma 2 malady

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

Summaries for Neuroblastoma 2

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MalaCards based summary: Neuroblastoma 2, also known as neuroblastoma with hirschsprung disease, is related to hirschsprung disease ganglioneuroblastoma and neuroblastoma, and has symptoms including ganglioneuroma, ganglioneuroblastoma and autosomal dominant inheritance. An important gene associated with Neuroblastoma 2 is PHOX2B (paired-like homeobox 2b), and among its related pathways is SIDS Susceptibility Pathways. The compounds dopamine and norepinephrine have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and normal.

Description from OMIM:45 613013

Aliases & Classifications for Neuroblastoma 2

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Neuroblastoma 2, Aliases & Descriptions:

Name: Neuroblastoma 2 45 22
Neuroblastoma with Hirschsprung Disease 45 10
 
Hirschsprung Disease Ganglioneuroblastoma 60


Classifications:

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


External Ids:

OMIM45 613013

Related Diseases for Neuroblastoma 2

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Diseases in the Neuroblastoma family:

Neuroblastoma 3 neuroblastoma 2

Diseases related to Neuroblastoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hirschsprung disease ganglioneuroblastoma10.2
2neuroblastoma10.0

Symptoms for Neuroblastoma 2

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Clinical features from OMIM:

613013

HPO human phenotypes related to Neuroblastoma 2:

id Description Frequency HPO Source Accession
1 ganglioneuroma rare (5%) HP:0003005
2 ganglioneuroblastoma rare (5%) HP:0006747
3 autosomal dominant inheritance HP:0000006
4 aganglionic megacolon HP:0002251

Drugs & Therapeutics for Neuroblastoma 2

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Drug clinical trials:

Search ClinicalTrials for Neuroblastoma 2

Search NIH Clinical Center for Neuroblastoma 2

Genetic Tests for Neuroblastoma 2

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Genetic tests related to Neuroblastoma 2:

id Genetic test Affiliating Genes
1 Neuroblastoma 222

Anatomical Context for Neuroblastoma 2

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Animal Models for Neuroblastoma 2 or affiliated genes

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MGI Mouse Phenotypes related to Neuroblastoma 2:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1PHOX2B, SST
2MP:00028738.8PHOX2B, SST

Publications for Neuroblastoma 2

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Articles related to Neuroblastoma 2:

idTitleAuthorsYear
1
Isolated intracranial metastasis of neuroblastoma 2 years after completion of therapy. (9124060)
1997

Variations for Neuroblastoma 2

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Clinvar genetic disease variations for Neuroblastoma 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PHOX2BNM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu)single nucleotide variantrisk factorrs104893855GRCh37Chr 4, 41749496: 41749496
2PHOX2BNM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp)single nucleotide variantrisk factorrs104893856GRCh37Chr 4, 41748179: 41748179

Expression for genes affiliated with Neuroblastoma 2

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Search GEO for disease gene expression data for Neuroblastoma 2.

Pathways for genes affiliated with Neuroblastoma 2

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Pathways related to Neuroblastoma 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PHOX2B, SST

Compounds for genes affiliated with Neuroblastoma 2

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Sources:
43Novoseek, 28IUPHAR, 24HMDB, 12DrugBank
See all sources

Compounds related to Neuroblastoma 2 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1dopamine43 28 24 1212.1PHOX2B, SST
2norepinephrine43 24 1210.8PHOX2B, SST

GO Terms for genes affiliated with Neuroblastoma 2

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Biological processes related to Neuroblastoma 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell proliferationGO:00082859.1PHOX2B, SST

Products for genes affiliated with Neuroblastoma 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neuroblastoma 2

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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