MCID: NRB015
MIFTS: 18

Neuroblastoma 2

Categories: Genetic diseases, Cancer diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neuroblastoma 2

MalaCards integrated aliases for Neuroblastoma 2:

Name: Neuroblastoma 2 53 71 28
Neuroblastoma with Hirschsprung Disease 53 13
Nblst2 53 71
Neuroblastoma, Susceptibility to, 2 53

Characteristics:

HPO:

31
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 71 Neuroblastoma 2: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

MalaCards based summary : Neuroblastoma 2, also known as neuroblastoma with hirschsprung disease, is related to hirschsprung disease ganglioneuroblastoma and neuroblastoma, and has symptoms including aganglionic megacolon, ganglioneuroma and ganglioneuroblastoma. An important gene associated with Neuroblastoma 2 is PHOX2B (Paired Like Homeobox 2b).

Description from OMIM: 613013

Related Diseases for Neuroblastoma 2

Diseases in the Neuroblastoma family:

Neuroblastoma 2 Neuroblastoma 3
Neuroblastoma 4 Neuroblastoma 5
Neuroblastoma 6 Neuroblastoma 7

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

# Related Disease Score Top Affiliating Genes
1 hirschsprung disease ganglioneuroblastoma 11.2
2 neuroblastoma 9.6

Symptoms & Phenotypes for Neuroblastoma 2

Clinical features from OMIM:

613013

Human phenotypes related to Neuroblastoma 2:

31
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 31 occasional (7.5%) HP:0002251
2 ganglioneuroma 31 very rare (1%) HP:0003005
3 ganglioneuroblastoma 31 very rare (1%) HP:0006747

Drugs & Therapeutics for Neuroblastoma 2

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 2

Genetic Tests for Neuroblastoma 2

Genetic tests related to Neuroblastoma 2:

# Genetic test Affiliating Genes
1 Neuroblastoma 2 28 PHOX2B

Anatomical Context for Neuroblastoma 2

Publications for Neuroblastoma 2

Articles related to Neuroblastoma 2:

# Title Authors Year
1
Isolated intracranial metastasis of neuroblastoma 2 years after completion of therapy. ( 9124060 )
1997

Variations for Neuroblastoma 2

ClinVar genetic disease variations for Neuroblastoma 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHOX2B NM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu) single nucleotide variant risk factor rs104893855 GRCh37 Chromosome 4, 41749496: 41749496
2 PHOX2B NM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh37 Chromosome 4, 41748179: 41748179

Expression for Neuroblastoma 2

Search GEO for disease gene expression data for Neuroblastoma 2.

Pathways for Neuroblastoma 2

GO Terms for Neuroblastoma 2

Sources for Neuroblastoma 2

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
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
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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