MCID: NRB015
MIFTS: 20

Neuroblastoma 2

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

Aliases & Classifications for Neuroblastoma 2

MalaCards integrated aliases for Neuroblastoma 2:

Name: Neuroblastoma 2 57 75 29 6
Neuroblastoma with Hirschsprung Disease 57 13
Nblst2 57 75
Neuroblastoma, Susceptibility to, Type 2 40
Neuroblastoma, Susceptibility to, 2 57

Characteristics:

HPO:

32
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Neuroblastoma 2 is PHOX2B (Paired Like Homeobox 2b). Related phenotypes are aganglionic megacolon and ganglioneuroma

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 30.4 LOC105374425 PHOX2B
2 neuroblastoma 28.2 GAS5 PHOX2B

Symptoms & Phenotypes for Neuroblastoma 2

Clinical features from OMIM:

613013

Human phenotypes related to Neuroblastoma 2:

32
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 32 occasional (7.5%) HP:0002251
2 ganglioneuroma 32 very rare (1%) HP:0003005
3 ganglioneuroblastoma 32 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 29 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.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh37 Chromosome 4, 41748179: 41748179
2 PHOX2B NM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh38 Chromosome 4, 41746162: 41746162

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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