NBLST2
MCID: NRB015
MIFTS: 29

Neuroblastoma 2 (NBLST2)

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

Aliases & Classifications for Neuroblastoma 2

MalaCards integrated aliases for Neuroblastoma 2:

Name: Neuroblastoma 2 57 72 29 6
Neuroblastoma with Hirschsprung Disease 57 29 13 6
Nblst2 57 72
Neuroblastoma, Susceptibility to, Type 2 39
Neuroblastoma, Susceptibility to, 2 57

Characteristics:

HPO:

31
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 72 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 neuroblastoma and hirschsprung disease ganglioneuroblastoma. An important gene associated with Neuroblastoma 2 is PHOX2B (Paired Like Homeobox 2B). Affiliated tissues include brain, and related phenotypes are aganglionic megacolon and ganglioneuroma

More information from OMIM: 613013

Related Diseases for Neuroblastoma 2

Diseases in the Neuroblastoma family:

Neuroblastoma 1 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 neuroblastoma 29.6 PHOX2B LOC110011216
2 hirschsprung disease ganglioneuroblastoma 11.3
3 central hypoventilation syndrome, congenital 9.1 PHOX2B-AS1 PHOX2B LOC110011216

Symptoms & Phenotypes for Neuroblastoma 2

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

Clinical features from OMIM®:

613013 (Updated 20-May-2021)

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 with Hirschsprung Disease 29
2 Neuroblastoma 2 29 PHOX2B

Anatomical Context for Neuroblastoma 2

MalaCards organs/tissues related to Neuroblastoma 2:

40
Brain

Publications for Neuroblastoma 2

Articles related to Neuroblastoma 2:

(show top 50) (show all 53)
# Title Authors PMID Year
1
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. 57 6
16691592 2006
2
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. 57 6
15024693 2004
3
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 6 57
12640453 2003
4
Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. 6
28371199 2017
5
In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. 6
19058226 2009
6
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. 6
15657873 2005
7
Germline PHOX2B mutation in hereditary neuroblastoma. 6
15338462 2004
8
Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. 6
12438263 2002
9
Segregation at three loci explains familial and population risk in Hirschsprung disease. 6
11953745 2002
10
Congenital central hypoventilation syndrome associated with Hirschsprung's disease and neuroblastoma: case of multiple neurocristopathies. 57
11747263 2002
11
Plerixafor combined with G-CSF for stem cell mobilization in children qualified for autologous transplantation- single center experience. 61
33583716 2021
12
Estimation of successful capping with complete aspiration of bladder via nephroureterostomy tube. 61
33235829 2020
13
A Phase 1 and pharmacokinetic study evaluating daily or weekly schedules of the humanized anti-GD2 antibody hu14.18K322A in recurrent/refractory solid tumors. 61
32643524 2020
14
Consumption Coagulopathy in Paediatric Solid Tumours: A Retrospective Analysis and Review of Literature. 61
31591993 2019
15
Evaluation of NKX2-2 expression in round cell sarcomas and other tumors with EWSR1 rearrangement: imperfect specificity for Ewing sarcoma. 61
26847175 2016
16
(18)F-FDG-PET/CT, (123)I-MIBG and (99m)Tc-MDP whole-body scans, in detecting recurrence of an adult adrenal neuroblastoma. 61
24563879 2014
17
[Primary analysis of endoscopic surgery and endoscopic-assisted surgery for sinonasal malignancy]. 61
24620655 2013
18
The role of immunohistochemistry in the analysis of the spectrum of small round cell tumours at a tertiary care centre. 61
23998069 2013
19
A prospective study of expectant observation as primary therapy for neuroblastoma in young infants: a Children's Oncology Group study. 61
22964741 2012
20
[Expression of ICAM-1 (CD54) in pediatric tumor and acute leukemia and its clinic significance in immunotherapy with CIK cell]. 61
22541082 2012
21
A new method of comparing 2D-PAGE maps based on the computation of Zernike moments and multivariate statistical tools. 61
18256813 2008
22
[Infradiaphragmatic extralobar pulmonary sequestration]. 61
17128379 2006
23
Clear cell myomelanocytic tumor (PEComa) of the duodenum in a child with a history of neuroblastoma. 61
16253032 2005
24
[Endoscopic or endoscope-assisted surgery for sinonasal malignancy]. 61
15605998 2004
25
Laparoscopy in the management of pediatric intraabdominal tumors. 61
15119653 2004
26
[Transmaxillary approach for surgical removal of the invasive skull base tumors]. 61
11955386 2002
27
Nasomaxillary osteotomy in lesions of the central compartment of the middle cranial base. 61
11721508 2001
28
Risk-based management: current concepts of treating malignant solid tumors of childhood. 61
10509467 1999
29
Pretreatment, ultrasound-guided cutting needle biopsies in childhood renal tumors. 61
10102023 1999
30
Pediatric Horner syndrome. 61
10532753 1998
31
Malignant intraperitoneal neoplasms of childhood. 61
9569270 1998
32
IL-2-Activated Killer Cells and Native Cytokines in Treatment of Patients with Advanced Cancer. 61
12687071 1997
33
In-111 pentetreotide scintigraphy in patients with neuroblastoma. Comparison with I-131 MIBG, N-Myc oncogene amplification, and patient outcome. 61
9152532 1997
34
Isolated intracranial metastasis of neuroblastoma 2 years after completion of therapy. 61
9124060 1997
35
Malignant tumors of the nasal cavity: review of a 60-case series. 61
7474406 1995
36
The role of spiral (helical) computerized tomography with three-dimensional reconstruction in pediatric solid tumors. 61
7738757 1995
37
Macrophage inflammatory protein (mip)-1-alpha stem-cell inhibitor (sci) does not affect clonal growth of human solid tumor-cell lines in-vitro. 61
21566931 1994
38
Neuroblastoma in a renal transplanted child. 61
8398659 1993
39
Meta-iodobenzylguanidine in children. 61
8378796 1993
40
Characterization of endothelin receptors on a human neuroblastoma cell line: evidence for the ETA subtype. 61
1665749 1991
41
Studies on the interaction between interleukin 6 and human malignant nonhematopoietic cell lines. 61
1855204 1991
42
Neuroblastoma, retinoblastoma, and brain tumors in children. 61
1892917 1991
43
[The role of interferons in neuroblastoma. 2: Immunomodulatory effects]. 61
2118581 1990
44
Secondary testicular tumors. 61
2744054 1989
45
The role of fine needle aspiration in the assessment of renal masses. 61
3336946 1988
46
Urinary arylsulfatase in normal children and in patients with pediatric malignant disease. 61
6132469 1983
47
Organophosphate cytotoxicity: the effects on protein metabolism in cultured neuroblastoma cells. 61
7441094 1980
48
Computed tomography of acute intratumoral hemorrhage. 61
7367626 1980
49
Clinical trial of VP 16--213 (NSC 141540) I.V. twice weekly in advanced neoplastic disease: a study by the Cancer and Leukemia Group B. 61
6985831 1980
50
[Biochemical studies on familial neuroblastoma]. 61
643289 1978

Variations for Neuroblastoma 2

ClinVar genetic disease variations for Neuroblastoma 2:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHOX2B NM_003924.3(PHOX2B):c.421C>G (p.Arg141Gly) SNV Pathogenic 6012 rs28939716 GRCh37: 4:41749374-41749374
GRCh38: 4:41747357-41747357
2 PHOX2B PHOX2B, 1-BP DEL, 676G Deletion Pathogenic 6013 GRCh37:
GRCh38:
3 PHOX2B NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys) SNV Pathogenic 1032169 GRCh37: 4:41747824-41747824
GRCh38: 4:41745807-41745807
4 PHOX2B NM_003924.3(PHOX2B):c.590G>A (p.Gly197Asp) SNV risk factor 6014 rs104893856 GRCh37: 4:41748179-41748179
GRCh38: 4:41746162-41746162
5 PHOX2B NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu) SNV risk factor 6011 rs104893855 GRCh37: 4:41749496-41749496
GRCh38: 4:41747479-41747479
6 PHOX2B , PHOX2B-AS1 NM_003924.3(PHOX2B):c.-265G>A SNV Uncertain significance 348813 rs886059415 GRCh37: 4:41750892-41750892
GRCh38: 4:41748875-41748875
7 PHOX2B NM_003924.3(PHOX2B):c.*18G>A SNV Uncertain significance 348808 rs776498322 GRCh37: 4:41747806-41747806
GRCh38: 4:41745789-41745789
8 PHOX2B NM_003924.3(PHOX2B):c.*1644A>T SNV Uncertain significance 348781 rs886059410 GRCh37: 4:41746180-41746180
GRCh38: 4:41744163-41744163
9 PHOX2B , LOC110011216 NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) SNV Uncertain significance 348810 rs751829128 GRCh37: 4:41748040-41748040
GRCh38: 4:41746023-41746023
10 PHOX2B NM_003924.3(PHOX2B):c.*693C>T SNV Uncertain significance 348794 rs535962589 GRCh37: 4:41747131-41747131
GRCh38: 4:41745114-41745114
11 PHOX2B NM_003924.3(PHOX2B):c.*1627G>A SNV Uncertain significance 348782 rs886059411 GRCh37: 4:41746197-41746197
GRCh38: 4:41744180-41744180
12 PHOX2B NM_003924.3(PHOX2B):c.*60G>A SNV Uncertain significance 348803 rs558416040 GRCh37: 4:41747764-41747764
GRCh38: 4:41745747-41745747
13 PHOX2B NM_003924.3(PHOX2B):c.*638G>C SNV Uncertain significance 348796 rs544491872 GRCh37: 4:41747186-41747186
GRCh38: 4:41745169-41745169
14 PHOX2B NM_003924.3(PHOX2B):c.*737C>T SNV Uncertain significance 348793 rs745503233 GRCh37: 4:41747087-41747087
GRCh38: 4:41745070-41745070
15 PHOX2B NM_003924.3(PHOX2B):c.*1701A>G SNV Uncertain significance 348779 rs886059409 GRCh37: 4:41746123-41746123
GRCh38: 4:41744106-41744106
16 PHOX2B , PHOX2B-AS1 NM_003924.3(PHOX2B):c.-210C>A SNV Uncertain significance 348812 rs886059414 GRCh37: 4:41750837-41750837
GRCh38: 4:41748820-41748820
17 PHOX2B NM_003924.3(PHOX2B):c.*1401C>G SNV Uncertain significance 348784 rs781647693 GRCh37: 4:41746423-41746423
GRCh38: 4:41744406-41744406
18 PHOX2B NM_003924.3(PHOX2B):c.*1486T>C SNV Uncertain significance 348783 rs530550940 GRCh37: 4:41746338-41746338
GRCh38: 4:41744321-41744321
19 PHOX2B NM_003924.3(PHOX2B):c.*19C>A SNV Uncertain significance 348807 rs770841700 GRCh37: 4:41747805-41747805
GRCh38: 4:41745788-41745788
20 PHOX2B NM_003924.3(PHOX2B):c.*1310G>T SNV Uncertain significance 348789 rs180795407 GRCh37: 4:41746514-41746514
GRCh38: 4:41744497-41744497
21 PHOX2B NM_003924.3(PHOX2B):c.*1269A>G SNV Uncertain significance 348790 rs886059412 GRCh37: 4:41746555-41746555
GRCh38: 4:41744538-41744538
22 PHOX2B NM_003924.3(PHOX2B):c.*58G>C SNV Uncertain significance 348804 rs886059413 GRCh37: 4:41747766-41747766
GRCh38: 4:41745749-41745749
23 PHOX2B-AS1 , PHOX2B NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr) SNV Uncertain significance 901843 GRCh37: 4:41750393-41750393
GRCh38: 4:41748376-41748376
24 PHOX2B NM_003924.4(PHOX2B):c.*789G>A SNV Uncertain significance 903659 GRCh37: 4:41747035-41747035
GRCh38: 4:41745018-41745018
25 PHOX2B NM_003924.4(PHOX2B):c.*680C>G SNV Uncertain significance 900066 GRCh37: 4:41747144-41747144
GRCh38: 4:41745127-41745127
26 PHOX2B , PHOX2B-AS1 NM_003924.3(PHOX2B):c.-195G>A SNV Uncertain significance 348811 rs775569375 GRCh37: 4:41750822-41750822
GRCh38: 4:41748805-41748805
27 PHOX2B NM_003924.3(PHOX2B):c.851C>G (p.Pro284Arg) SNV Uncertain significance 535774 rs1462459716 GRCh37: 4:41747918-41747918
GRCh38: 4:41745901-41745901
28 PHOX2B-AS1 , PHOX2B NM_003924.3(PHOX2B):c.227G>C (p.Ser76Thr) SNV Uncertain significance 486030 rs532711949 GRCh37: 4:41750401-41750401
GRCh38: 4:41748384-41748384
29 PHOX2B NM_003924.4(PHOX2B):c.*301C>G SNV Uncertain significance 900067 GRCh37: 4:41747523-41747523
GRCh38: 4:41745506-41745506
30 PHOX2B , LOC110011216 NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) SNV Uncertain significance 239594 rs766767855 GRCh37: 4:41748009-41748009
GRCh38: 4:41745992-41745992
31 PHOX2B NM_003924.4(PHOX2B):c.*1345G>T SNV Uncertain significance 901161 GRCh37: 4:41746479-41746479
GRCh38: 4:41744462-41744462
32 PHOX2B NM_003924.4(PHOX2B):c.*1334G>C SNV Uncertain significance 901162 GRCh37: 4:41746490-41746490
GRCh38: 4:41744473-41744473
33 PHOX2B NM_003924.4(PHOX2B):c.*214A>G SNV Uncertain significance 901223 GRCh37: 4:41747610-41747610
GRCh38: 4:41745593-41745593
34 PHOX2B NM_003924.4(PHOX2B):c.*161G>C SNV Uncertain significance 901224 GRCh37: 4:41747663-41747663
GRCh38: 4:41745646-41745646
35 PHOX2B , LOC110011216 NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) SNV Uncertain significance 901291 GRCh37: 4:41748028-41748028
GRCh38: 4:41746011-41746011
36 PHOX2B-AS1 , PHOX2B NM_003924.4(PHOX2B):c.-105G>A SNV Uncertain significance 902754 GRCh37: 4:41750732-41750732
GRCh38: 4:41748715-41748715
37 PHOX2B , PHOX2B-AS1 NC_000004.12:g.41748769G>A SNV Uncertain significance 902755 GRCh37: 4:41750786-41750786
GRCh38: 4:41748769-41748769
38 PHOX2B NM_003924.4(PHOX2B):c.*1582T>C SNV Uncertain significance 903594 GRCh37: 4:41746242-41746242
GRCh38: 4:41744225-41744225
39 PHOX2B NM_003924.3(PHOX2B):c.486C>T (p.Ala162=) SNV Likely benign 486031 rs547677836 GRCh37: 4:41748283-41748283
GRCh38: 4:41746266-41746266
40 PHOX2B , LOC110011216 NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) SNV Likely benign 348809 rs747626591 GRCh37: 4:41747996-41747996
GRCh38: 4:41745979-41745979
41 PHOX2B NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) SNV Likely benign 239588 rs17879258 GRCh37: 4:41748130-41748130
GRCh38: 4:41746113-41746113
42 PHOX2B , LOC110011216 NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) SNV Likely benign 227845 rs757355779 GRCh37: 4:41748043-41748043
GRCh38: 4:41746026-41746026
43 PHOX2B NM_003924.3(PHOX2B):c.*600T>G SNV Benign 348797 rs73139116 GRCh37: 4:41747224-41747224
GRCh38: 4:41745207-41745207
44 PHOX2B NM_003924.3(PHOX2B):c.*80G>A SNV Benign 348802 rs75913938 GRCh37: 4:41747744-41747744
GRCh38: 4:41745727-41745727
45 PHOX2B NM_003924.3(PHOX2B):c.*161G>A SNV Benign 348801 rs114290493 GRCh37: 4:41747663-41747663
GRCh38: 4:41745646-41745646
46 PHOX2B NM_003924.3(PHOX2B):c.*1156C>A SNV Benign 348791 rs560413438 GRCh37: 4:41746668-41746668
GRCh38: 4:41744651-41744651
47 PHOX2B NM_003924.3(PHOX2B):c.*1381C>T SNV Benign 348786 rs59260453 GRCh37: 4:41746443-41746443
GRCh38: 4:41744426-41744426
48 PHOX2B NM_003924.3(PHOX2B):c.*550G>A SNV Benign 348799 rs577950819 GRCh37: 4:41747274-41747274
GRCh38: 4:41745257-41745257
49 PHOX2B NM_003924.3(PHOX2B):c.*1387C>T SNV Benign 348785 rs11723860 GRCh37: 4:41746437-41746437
GRCh38: 4:41744420-41744420
50 PHOX2B NM_003924.3(PHOX2B):c.*1347A>G SNV Benign 348788 rs62412180 GRCh37: 4:41746477-41746477
GRCh38: 4:41744460-41744460

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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