NBLST1
MCID: NRB010
MIFTS: 41

Neuroblastoma 1 (NBLST1)

Categories: Cancer diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neuroblastoma 1

MalaCards integrated aliases for Neuroblastoma 1:

Name: Neuroblastoma 1 57 73
Neuroblastoma, Susceptibility to, 1 57 28 5
Nblst1 57 73
Neuroblastoma, Susceptibility to, Type 1 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
incomplete penetrance
mean age of onset 14-24 months
highly variable clinical phenotype
symptoms vary according to location of tumor
spontaneous tumor regression may occur
usually sporadic, but 1-2% of cases are familial
n-myc oncogene amplification is associated with poor prognosis


Classifications:



Summaries for Neuroblastoma 1

OMIM®: 57 Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). (256700) (Updated 08-Dec-2022)

MalaCards based summary: Neuroblastoma 1, also known as neuroblastoma, susceptibility to, 1, is related to neuroblastoma. An important gene associated with Neuroblastoma 1 is KIF1B (Kinesin Family Member 1B). Affiliated tissues include adrenal gland, bone marrow and spinal cord, and related phenotypes are failure to thrive and ataxia

UniProtKB/Swiss-Prot: 73 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.

Related Diseases for Neuroblastoma 1

Diseases in the Neuroblastoma family:

Neuroblastoma 1 Neuroblastoma 2
Neuroblastoma 3 Neuroblastoma 4
Neuroblastoma 5 Neuroblastoma 6
Neuroblastoma 7

Diseases related to Neuroblastoma 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 28.6 UBE4B NBL1 NAV2 KIF1B

Symptoms & Phenotypes for Neuroblastoma 1

Human phenotypes related to Neuroblastoma 1:

30 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 30 HP:0001508
2 ataxia 30 HP:0001251
3 hypertension 30 HP:0000822
4 fever 30 HP:0001945
5 anemia 30 HP:0001903
6 myoclonus 30 HP:0001336
7 abdominal pain 30 HP:0002027
8 weight loss 30 HP:0001824
9 neuroblastoma 30 HP:0003006
10 bone pain 30 HP:0002653
11 diarrhea 30 HP:0002014
12 horner syndrome 30 HP:0002277
13 skin nodule 30 HP:0200036
14 ganglioneuroma 30 HP:0003005
15 ganglioneuroblastoma 30 HP:0006747
16 opsoclonus 30 HP:0010543
17 spinal cord compression 30 HP:0002176
18 elevated urinary dopamine 30 HP:0011979
19 abdominal mass 30 HP:0031500
20 elevated urinary vanillylmandelic acid 30 HP:0011978
21 elevated urinary homovanillic acid 30 HP:0011977
22 mediastinal mass 30 HP:0033823

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Growth Other:
failure to thrive

Metabolic Features:
fever

Neoplasia:
ganglioneuroma
ganglioneuroblastoma
neuroblastoma, arises anywhere along the sympathetic chain (including intracranially)
adrenal glands are most common site

Head And Neck Eyes:
horner's syndrome
periorbital ecchymoses (soft tissue involvement)

Chest:
mediastinal mass with calcifications on radiology

Skeletal:
bone pain (with metastatic disease)

Hematology:
anemia (with bone marrow involvement)

Neurologic Central Nervous System:
ataxia
myoclonus
opsoclonus
spinal cord compression
paraneoplastic syndromes

Abdomen:
abdominal pain
palpable abdominal mass
abdominal mass with calcifications on radiology

Growth Weight:
weight loss (with disseminated disease)

Cardiovascular Vascular:
hypertension (compression of renal arteries)

Abdomen Gastrointestinal:
diarrhea (due to vasoactive intestinal peptide)

Skin Nails Hair Skin:
bluish skin nodules

Laboratory Abnormalities:
increased urinary catecholamines
increased urinary homovanillic acid (hva)
increased urinary vanillylmandelic acid (vma)
increased urinary dopamine
tumor may secrete vasoactive intestinal peptide (vip)

Clinical features from OMIM®:

256700 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability with TRAIL GR00240-S-2 8.62 KIF1B NBL1

Drugs & Therapeutics for Neuroblastoma 1

Search Clinical Trials, NIH Clinical Center for Neuroblastoma 1

Genetic Tests for Neuroblastoma 1

Genetic tests related to Neuroblastoma 1:

# Genetic test Affiliating Genes
1 Neuroblastoma, Susceptibility to, 1 28 KIF1B

Anatomical Context for Neuroblastoma 1

Organs/tissues related to Neuroblastoma 1:

MalaCards : Adrenal Gland, Bone Marrow, Spinal Cord, Bone, Heart, Testis, Skin
ODiseA: Blood And Bone Marrow

Publications for Neuroblastoma 1

Articles related to Neuroblastoma 1:

(show top 50) (show all 157)
# Title Authors PMID Year
1
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 57 5
18334619 2008
2
A mechanistic classification of clinical phenotypes in neuroblastoma. 57
30523111 2018
3
Multiple mechanisms disrupt the let-7 microRNA family in neuroblastoma. 57
27383785 2016
4
Telomerase activation by genomic rearrangements in high-risk neuroblastoma. 57
26466568 2015
5
The genetic landscape of high-risk neuroblastoma. 57
23334666 2013
6
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 57
23202128 2013
7
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. 57
22367537 2012
8
miR-380-5p represses p53 to control cellular survival and is associated with poor outcome in MYCN-amplified neuroblastoma. 57
20871609 2010
9
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 57
20503330 2010
10
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 5
18726616 2008
11
Cancer: A ringleader identified. 57
18923503 2008
12
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. 57
18463370 2008
13
Potentiation of neuroblastoma metastasis by loss of caspase-8. 57
16397500 2006
14
Chromosome 1p and 11q deletions and outcome in neuroblastoma. 57
16306521 2005
15
A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. 57
16079250 2005
16
Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. 57
12687660 2003
17
Screening of infants and mortality due to neuroblastoma. 57
11932470 2002
18
Neuroblastoma screening at one year of age. 57
11932471 2002
19
Neuroblastoma within a congenital orbital teratoma. 57
11831928 2002
20
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours. 57
11870543 2002
21
Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. 57
10087945 1999
22
NB4S, a member of the TBC1 domain family of genes, is truncated as a result of a constitutional t(1;10)(p22;q21) chromosome translocation in a patient with stage 4S neuroblastoma. 57
9618176 1998
23
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. 57
9169039 1997
24
Anticipation in pediatric malignancies. 57
9150177 1997
25
Familial predisposition to neuroblastoma does not map to chromosome band 1p36. 57
8758905 1996
26
Molecular characterization of a (1;10)(p22;q21) constitutional translocation from a patient with neuroblastoma. 57
7621412 1995
27
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. 57
7777541 1995
28
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. 57
7633401 1995
29
Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity. 57
8037211 1994
30
Nm23-H1 mutation in neuroblastoma. 57
8047138 1994
31
Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas. 57
8102299 1993
32
Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. 57
8102298 1993
33
Neurofibromatosis type 1 gene mutations in neuroblastoma. 57
8490657 1993
34
Constitutional 1p36 deletion in a child with neuroblastoma. 57
8434586 1993
35
Deletion mapping of chromosomes 14q and 1p in human neuroblastoma. 57
1594247 1992
36
Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. 57
1679663 1991
37
Molecular evaluation of abnormalities of the short arm of chromosome 1 in neuroblastoma. 57
1980608 1990
38
Neuroblastoma consensus deletion maps to 1p36.1-2. 57
2487156 1989
39
Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region. 57
2535035 1989
40
Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification. 57
2566996 1989
41
Frequent loss of heterozygosity on chromosome 14q in neuroblastoma. 57
2563671 1989
42
Molecular analysis of chromosome 1 abnormalities in neuroblastoma. 57
2776489 1989
43
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. 57
6700732 1984
44
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. 57
6888561 1983
45
Specific DNA sequence amplification in human neuroblastoma cells. 57
6577451 1983
46
Chromosomal assignment of a family of human oncogenes. 57
6576347 1983
47
Chromosome analysis of human neuroblastoma cell line TR14 showing double minutes and an aberration involving chromosome 1. 57
6861117 1983
48
Three human transforming genes are related to the viral ras oncogenes. 57
6572964 1983
49
Isolation and preliminary characterization of the transforming gene of a human neuroblastoma cell line. 57
6300838 1983
50
Genetics of familial neuroblastoma: long-range studies. 57
7151041 1982

Variations for Neuroblastoma 1

ClinVar genetic disease variations for Neuroblastoma 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIF1B NM_001365951.3(KIF1B):c.2075A>T (p.Glu692Val) SNV Risk Factor
4659 rs121908161 GRCh37: 1:10357264-10357264
GRCh38: 1:10297206-10297206
2 KIF1B NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) SNV Risk Factor
4660 rs121908162 GRCh37: 1:10384896-10384896
GRCh38: 1:10324838-10324838
3 KIF1B NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser) SNV Risk Factor
4661 rs121908163 GRCh37: 1:10406001-10406001
GRCh38: 1:10345943-10345943
4 KIF1B NM_001365951.3(KIF1B):c.4580G>A (p.Ser1527Asn) SNV Risk Factor
4662 rs121908164 GRCh37: 1:10425534-10425534
GRCh38: 1:10365476-10365476

Expression for Neuroblastoma 1

LifeMap Discovery
Genes differentially expressed in tissues of Neuroblastoma 1 patients vs. healthy controls: 35 (show top 50) (show all 640)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 STAR steroidogenic acute regulatory protein Adrenal Gland - 9.57 0.000
2 CYP11A1 cytochrome P450 family 11 subfamily A member 1 Adrenal Gland - 9.02 0.000
3 CYP11B1 cytochrome P450 family 11 subfamily B member 1 Adrenal Gland - 8.90 0.000
4 CYP17A1 cytochrome P450 family 17 subfamily A member 1 Adrenal Gland - 8.90 0.000
5 ELAVL4 ELAV like RNA binding protein 4 Adrenal Gland + 8.22 0.000
6 SULT2A1 sulfotransferase family 2A member 1 Adrenal Gland - 8.16 0.000
7 HAND2 heart and neural crest derivatives expressed 2 Adrenal Gland + 8.05 0.000
8 STMN2 stathmin 2 Adrenal Gland + 7.76 0.000
9 PHOX2B paired like homeobox 2B Adrenal Gland + 7.74 0.000
10 ISL1 ISL LIM homeobox 1 Adrenal Gland + 7.46 0.000
11 CYP21A2 cytochrome P450 family 21 subfamily A member 2 Adrenal Gland - 7.45 0.000
12 MGST1 microsomal glutathione S-transferase 1 Adrenal Gland - 7.39 0.000
13 TUBB2B tubulin beta 2B class IIb Adrenal Gland + 7.37 0.000
14 NPY neuropeptide Y Adrenal Gland + 7.34 0.000
15 GSTA1 glutathione S-transferase alpha 1 Adrenal Gland - 7.21 0.000
16 RTN1 reticulon 1 Adrenal Gland + 7.18 0.000
17 ADGRV1 adhesion G protein-coupled receptor V1 Adrenal Gland - 7.16 0.000
18 SCG2 secretogranin II Adrenal Gland + 7.15 0.000
19 DCX doublecortin Adrenal Gland + 7.06 0.000
20 NRK Nik related kinase Adrenal Gland - 7.01 0.000
21 MAB21L1 mab-21 like 1 Adrenal Gland + 7.01 0.000
22 MRAP melanocortin 2 receptor accessory protein Adrenal Gland - 7.01 0.000
23 MGARP mitochondria localized glutamic acid rich protein Adrenal Gland - 6.97 0.000
24 SLC38A1 solute carrier family 38 member 1 Adrenal Gland + 6.95 0.000
25 RIMBP2 RIMS binding protein 2 Adrenal Gland + 6.84 0.000
26 CD24 CD24 molecule Adrenal Gland + 6.82 0.000
27 GNRHR gonadotropin releasing hormone receptor Adrenal Gland - 6.80 0.000
28 LDLR low density lipoprotein receptor Adrenal Gland - 6.79 0.000
29 FDX1 ferredoxin 1 Adrenal Gland - 6.79 0.000
30 NSG2 neuronal vesicle trafficking associated 2 Adrenal Gland + 6.78 0.000
31 CPB1 carboxypeptidase B1 Adrenal Gland - 6.76 0.000
32 CRMP1 collapsin response mediator protein 1 Adrenal Gland + 6.70 0.000
33 SOX11 SRY-box transcription factor 11 Adrenal Gland + 6.65 0.000
34 SYT1 synaptotagmin 1 Adrenal Gland + 6.61 0.000
35 GAP43 growth associated protein 43 Adrenal Gland + 6.61 0.000
36 TFAP2B transcription factor AP-2 beta Adrenal Gland + 6.59 0.000
37 SCN3A sodium voltage-gated channel alpha subunit 3 Adrenal Gland + 6.57 0.000
38 KRT1 keratin 1 Blood - 6.56 0.000
39 CELF4 CUGBP Elav-like family member 4 Adrenal Gland + 6.53 0.000
40 CHGA chromogranin A Adrenal Gland + 6.45 0.000
41 ELAVL2 ELAV like RNA binding protein 2 Adrenal Gland + 6.41 0.000
42 SCARB1 scavenger receptor class B member 1 Adrenal Gland - 6.33 0.000
43 IGFBPL1 insulin like growth factor binding protein like 1 Adrenal Gland + 6.17 0.000
44 INA internexin neuronal intermediate filament protein alpha Adrenal Gland + 6.16 0.000
45 SNAP91 synaptosome associated protein 91 Adrenal Gland + 6.16 0.000
46 CHRNA3 cholinergic receptor nicotinic alpha 3 subunit Adrenal Gland + 6.16 0.000
47 PAK3 p21 (RAC1) activated kinase 3 Adrenal Gland + 6.15 0.000
48 STMN4 stathmin 4 Adrenal Gland + 6.11 0.000
49 SIGLEC11 sialic acid binding Ig like lectin 11 Adrenal Gland - 6.05 0.000
50 PDZK1IP1 PDZK1 interacting protein 1 Blood - 6.03 0.000
Search GEO for disease gene expression data for Neuroblastoma 1.

Pathways for Neuroblastoma 1

GO Terms for Neuroblastoma 1

Sources for Neuroblastoma 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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