NBLST2
MCID: NRB015
MIFTS: 19

Neuroblastoma 2 (NBLST2)

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

Aliases & Classifications for Neuroblastoma 2

MalaCards integrated aliases for Neuroblastoma 2:

Name: Neuroblastoma 2 58 76 30 6
Neuroblastoma with Hirschsprung Disease 58 13
Nblst2 58 76
Neuroblastoma, Susceptibility to, Type 2 41
Neuroblastoma, Susceptibility to, 2 58

Characteristics:

HPO:

33
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 76 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. 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 1 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 31.2 LOC105374425 PHOX2B

Symptoms & Phenotypes for Neuroblastoma 2

Human phenotypes related to Neuroblastoma 2:

33
# Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 33 occasional (7.5%) HP:0002251
2 ganglioneuroma 33 very rare (1%) HP:0003005
3 ganglioneuroblastoma 33 very rare (1%) HP:0006747

Clinical features from OMIM:

613013

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 30 PHOX2B

Anatomical Context for Neuroblastoma 2

Publications for Neuroblastoma 2

Articles related to Neuroblastoma 2:

# Title Authors Year
1
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. ( 16691592 )
2006
2
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. ( 15024693 )
2004
3
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 Uncertain significance rs104893855 GRCh37 Chromosome 4, 41749496: 41749496
2 PHOX2B NM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu) single nucleotide variant Uncertain significance rs104893855 GRCh38 Chromosome 4, 41747479: 41747479
3 PHOX2B NM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh37 Chromosome 4, 41748179: 41748179
4 PHOX2B NM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh38 Chromosome 4, 41746162: 41746162
5 PHOX2B NM_003924.3(PHOX2B): c.227G> C (p.Ser76Thr) single nucleotide variant Uncertain significance rs532711949 GRCh37 Chromosome 4, 41750401: 41750401
6 PHOX2B NM_003924.3(PHOX2B): c.227G> C (p.Ser76Thr) single nucleotide variant Uncertain significance rs532711949 GRCh38 Chromosome 4, 41748384: 41748384
7 PHOX2B NM_003924.3(PHOX2B): c.851C> G (p.Pro284Arg) single nucleotide variant Uncertain significance rs1462459716 GRCh37 Chromosome 4, 41747918: 41747918
8 PHOX2B NM_003924.3(PHOX2B): c.851C> G (p.Pro284Arg) single nucleotide variant Uncertain significance rs1462459716 GRCh38 Chromosome 4, 41745901: 41745901

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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