NBLST1
MCID: NRB010
MIFTS: 51

Neuroblastoma 1 (NBLST1)

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

Aliases & Classifications for Neuroblastoma 1

MalaCards integrated aliases for Neuroblastoma 1:

Name: Neuroblastoma 1 58 76 6
Neuroblastoma 58 12 77 54 26 60 38 30 13 6 44 45 15 41 17
Nblst1 58 76
Nb 54 26
Neuroblastoma, Susceptibility to, Type 1 41
Neuroblastoma, Susceptibility to, 1 58

Characteristics:

Orphanet epidemiological data:

60
neuroblastoma
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal dominant
somatic mutation

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


HPO:

33
neuroblastoma 1:
Onset and clinical course incomplete penetrance
Inheritance heterogeneous autosomal dominant inheritance sporadic


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Neuroblastoma 1

NIH Rare Diseases : 54 Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). In most cases, it has spread by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms. The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an inheritedmutation in a gene, such as the ALK gene or PHOX2B gene. Diagnosing a neuroblastoma may rely on a physical examination, blood tests, imaging tests (such as MRI or CT scan) and ultimately, a biopsy. Treatment depends on the size and location of the tumor within the body, as well as the child�??s age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases. In some children the tumor goes away without treatment. While the long-term outlook and chance of survival depends on many factors, the 5-year survival rate ranges from 40-50% in some, to over 95% in others. The child's doctor is in the best position to provide personalized information about the outlook in each case.

MalaCards based summary : Neuroblastoma 1, also known as neuroblastoma, is related to glioma and astrocytoma. An important gene associated with Neuroblastoma 1 is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include bone, adrenal gland and skin, and related phenotypes are neoplasm of the nervous system and elevated urinary catecholamines

Disease Ontology : 12 An autonomic nervous system neoplasm that derives from immature nerve cells.

Genetics Home Reference : 26 Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.

OMIM : 58 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)

MedlinePlus : 44 Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are A lump in the abdomen, neck or chest Bulging eyes Dark circles around the eyes Bone pain Swollen stomach and trouble breathing in babies Painless, bluish lumps under the skin in babies Inability to move a body part Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute

UniProtKB/Swiss-Prot : 76 Neuroblastoma 1: 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.

Wikipedia : 77 Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently... more...

Related Diseases for Neuroblastoma 1

Diseases in the Neuroblastoma 1 family:

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:

(show top 50) (show all 569)
# Related Disease Score Top Affiliating Genes
1 glioma 31.9 FGFR1 HAGLR MIR184 MIR34A TP53
2 astrocytoma 31.4 FGFR1 LINC00467 PTPN11 SNHG1
3 melanoma 31.2 CASC15 MIR184 MIR34A PAUPAR TP53
4 lung cancer 31.1 ALK FGFR1 HAGLR MIR34A NME1 SNHG1
5 hepatocellular carcinoma 30.5 CASC15 DBH-AS1 FGFR1 HAGLR MIR100HG MIR34A
6 ovarian cancer 30.4 HAGLR MIR184 NBAT1 NME1 SNHG16 TP53
7 olfactory neuroblastoma 12.6
8 neuroblastoma 2 12.5
9 neuroblastoma 3 12.5
10 cervical neuroblastoma 12.4
11 cerebral neuroblastoma 12.3
12 adrenal neuroblastoma 12.3
13 nijmegen breakage syndrome 12.3
14 differentiating neuroblastoma 12.2
15 extracranial neuroblastoma 12.2
16 spinal cord neuroblastoma 12.2
17 retroperitoneal neuroblastoma 12.2
18 neuroblastoma 4 12.1
19 neuroblastoma 5 12.1
20 neuroblastoma 6 12.1
21 nasal cavity olfactory neuroblastoma 12.1
22 neuroblastoma 7 12.0
23 mediastinum neuroblastoma 12.0
24 nicolaides-baraitser syndrome 11.9
25 retinoblastoma 11.8
26 opsoclonus-myoclonus syndrome 11.5
27 central hypoventilation syndrome, congenital 11.5
28 ganglioneuroblastoma 11.4
29 wilms tumor 1 11.4
30 medulloblastoma 11.4
31 weaver syndrome 11.4
32 myoclonic encephalopathy of infants 11.4
33 hirschsprung disease ganglioneuroblastoma 11.3
34 nijmegen breakage syndrome-like disorder 11.3
35 cohen syndrome 11.3
36 adrenal carcinoma 11.3
37 duarte variant galactosemia 11.3
38 askin's tumor 11.0
39 simpson-golabi-behmel syndrome 11.0
40 gastric cancer 10.7 CASC15 HAGLR MIR34A NME1 SNHG1 SNHG16
41 lung squamous cell carcinoma 10.7 ALK FGFR1 PTPN11 SNHG1 TP53
42 cervical cancer 10.7 HAGLR MIR100HG NME1 SNHG16 TP53
43 parameningeal embryonal rhabdomyosarcoma 10.6 ALK TP53
44 leukemia, chronic lymphocytic 2 10.6 MIR34A PTPN11 TP53
45 hematologic cancer 10.6 ALK FGFR1 PTPN11 TP53
46 vitiligo-associated multiple autoimmune disease susceptibility 1 10.6
47 intraocular pressure quantitative trait locus 10.5
48 pleomorphic carcinoma 10.5 ALK TP53
49 hypoxia 10.5
50 myoclonus 10.4

Graphical network of the top 20 diseases related to Neuroblastoma 1:



Diseases related to Neuroblastoma 1

Symptoms & Phenotypes for Neuroblastoma 1

Human phenotypes related to Neuroblastoma 1:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the nervous system 60 33 hallmark (90%) Very frequent (99-80%) HP:0004375
2 elevated urinary catecholamines 60 33 hallmark (90%) Very frequent (99-80%) HP:0011976
3 hypertension 33 HP:0000822
4 ataxia 33 HP:0001251
5 failure to thrive 33 HP:0001508
6 fever 33 HP:0001945
7 anemia 33 HP:0001903
8 abdominal pain 33 HP:0002027
9 weight loss 33 HP:0001824
10 abnormality of the thorax 33 HP:0000765
11 myoclonus 33 HP:0001336
12 diarrhea 33 HP:0002014
13 bone pain 33 HP:0002653
14 neuroblastoma 33 HP:0003006
15 ganglioneuroma 33 HP:0003005
16 skin nodule 33 HP:0200036
17 horner syndrome 33 HP:0002277
18 ganglioneuroblastoma 33 HP:0006747
19 opsoclonus 33 HP:0010543
20 spinal cord compression 33 HP:0002176
21 elevated urinary dopamine 33 HP:0011979
22 abdominal mass 33 HP:0031500
23 elevated urinary vanillylmandelic acid 33 HP:0011978
24 elevated urinary homovanillic acid 33 HP:0011977

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
myoclonus
opsoclonus
spinal cord compression
paraneoplastic syndromes

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)

Growth Other:
failure to thrive

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

Drugs & Therapeutics for Neuroblastoma 1

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 1

Cochrane evidence based reviews: neuroblastoma

Genetic Tests for Neuroblastoma 1

Genetic tests related to Neuroblastoma 1:

# Genetic test Affiliating Genes
1 Neuroblastoma 30 KIF1B NME1

Anatomical Context for Neuroblastoma 1

MalaCards organs/tissues related to Neuroblastoma 1:

42
Bone, Adrenal Gland, Skin, Kidney, Spinal Cord, Eye, Testes

Publications for Neuroblastoma 1

Articles related to Neuroblastoma 1:

(show top 50) (show all 2994)
# Title Authors Year
1
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure. ( 30622725 )
2019
2
Differences in Genomic Profiles and Outcomes between Thoracic and Adrenal Neuroblastoma. ( 30793172 )
2019
3
A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl. ( 30079965 )
2019
4
Crizotinib-induced erosive esophagitis in a pediatric patient with neuroblastoma. ( 29357780 )
2019
5
RNA sequencing reveals a key role for the long non-coding RNA MIAT in regulating neuroblastoma and glioblastoma cell fate. ( 30836187 )
2019
6
Differential Effects of Doxazosin on Renin-Angiotensin-System- Regulating Aminopeptidase Activities in Neuroblastoma and Glioma Tumoral Cells. ( 30370863 )
2019
7
Graft-versus-host disease in a child with neuroblastoma after autologous stem cell transplantation. ( 31061639 )
2019
8
Neuroblastoma RAS Viral Oncogene Homolog (NRAS) Is a Novel Prognostic Marker and Contributes to Sorafenib Resistance in Hepatocellular Carcinoma. ( 30685691 )
2019
9
Melatonin ameliorates endoplasmic reticulum stress in N2a neuroblastoma cell hypoxia-reoxygenation injury by activating the AMPK-Pak2 pathway. ( 30976981 )
2019
10
Cytotoxicity and molecular activity of fenretinide and metabolites in T-cell lymphoid malignancy, neuroblastoma, and ovarian cancer cell lines in physiological hypoxia. ( 30272587 )
2019
11
Silencing of NADPH Oxidase 4 Attenuates Hypoxia Resistance in Neuroblastoma Cells SH-SY5Y by Inhibiting PI3K/Akt-Dependent Glycolysis. ( 29426376 )
2019
12
5'-Iodotubercidin represses insulinoma associated-1 expression, decreases cAMP levels, and suppresses human neuroblastoma cell growth. ( 30755485 )
2019
13
An age-based, RNA expression paradigm for survival biomarker identification for pediatric neuroblastoma and acute lymphoblastic leukemia. ( 30962767 )
2019
14
Targeting Anaplastic Lymphoma Kinase in neuroblastoma. ( 30803032 )
2019
15
Novel therapeutic compound acridine-retrotuftsin action on biological forms of melanoma and neuroblastoma. ( 30367436 )
2019
16
IGF-1 alleviates serum IgG-induced neuronal cytolysis through PI3K signaling in children with opsoclonus-myoclonus syndrome and neuroblastoma. ( 30718793 )
2019
17
MAPKs and NF-κB-mediated acrylamide-induced neuropathy in rat striatum and human neuroblastoma cells SY5Y. ( 30368882 )
2019
18
Genetic Profile and Clinical Implications of Hepatoblastoma and Neuroblastoma Coexistence in a Child. ( 31019896 )
2019
19
Patterns of failures after surgical resection in olfactory neuroblastoma. ( 30506150 )
2019
20
Adrenocorticotropic Hormone-Dependent Cushing Syndrome Caused by an Olfactory Neuroblastoma. ( 30728732 )
2019
21
Current status of functional imaging in neuroblastoma, pheochromocytoma, and paraganglioma disease. ( 30182289 )
2019
22
Romiplostim for Immune Thrombocytopenia in Neuroblastoma Patients Receiving Chemotherapy. ( 29683946 )
2019
23
Cholinergic Differentiation of Human Neuroblastoma SH-SY5Y Cell Line and Its Potential Use as an In vitro Model for Alzheimer's Disease Studies. ( 31037648 )
2019
24
Dual Effect of Doxazosin: Anticancer Activity on SH-SY5Y Neuroblastoma Cells and Neuroprotection on an In Vitro Model of Alzheimer's Disease. ( 30771511 )
2019
25
Integrative analysis based on survival associated co-expression gene modules for predicting Neuroblastoma patients' survival time. ( 30760313 )
2019
26
Analytical validation and clinical application of urinary vanillylmandelic acid and homovanillic acid by LC-MS/MS for diagnosis of neuroblastoma. ( 30632178 )
2019
27
Pleiotropic effect of common PHOX2B variants in Hirschsprung disease and neuroblastoma. ( 30799307 )
2019
28
State of the art in immunotherapy of neuroblastoma. ( 31094257 )
2019
29
MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature. ( 31094905 )
2019
30
Small molecule inhibitor agerafenib effectively suppresses neuroblastoma tumor growth in mouse models via inhibiting ERK MAPK signaling. ( 31100410 )
2019
31
MicroRNA-186-5p represses neuroblastoma cell growth via downregulation of Eg5. ( 31105832 )
2019
32
An antibody-drug conjugate directed to the ALK receptor demonstrates efficacy in preclinical models of neuroblastoma. ( 30867324 )
2019
33
Duplication of ALK F1245 missense mutation due to acquired uniparental disomy associated with aggressive progression in a patient with relapsed neuroblastoma. ( 30867766 )
2019
34
Collaborative ISL1/GATA3 interaction in controlling neuroblastoma oncogenic pathways overlapping with but distinct from MYCN. ( 30867811 )
2019
35
RDM1 promotes neuroblastoma growth through the RAS-Raf-MEK-ERK pathway. ( 30868057 )
2019
36
SLC34A2 promotes neuroblastoma cell stemness via enhancement of miR-25/Gsk3β-mediated activation of Wnt/β-catenin signaling. ( 30868061 )
2019
37
Xanthohumol increases death receptor 5 expression and enhances apoptosis with the TNF-related apoptosis-inducing ligand in neuroblastoma cell lines. ( 30870485 )
2019
38
Transcriptomic Landscape of Cisplatin-Resistant Neuroblastoma Cells. ( 30871063 )
2019
39
CRMP2-derived peptide ST2-104 (R9-CBD3) protects SH-SY5Y neuroblastoma cells against Aβ25-35-induced neurotoxicity by inhibiting the pCRMP2/NMDAR2B signaling pathway. ( 30871964 )
2019
40
Glutathione transferase Omega 1-1 (GSTO1-1) modulates Akt and MEK1/2 signaling in human neuroblastoma cell SH-SY5Y. ( 30874320 )
2019
41
Endocrine consequences of neuroblastoma treatment in children: 20 years' experience of a single center. ( 30875326 )
2019
42
MRI Imaging of the Hemodynamic Vasculature of Neuroblastoma Predicts Response to Antiangiogenic Treatment. ( 30877107 )
2019
43
Down-regulation of MYCN protein by CX-5461 leads to neuroblastoma tumor growth suppression. ( 30879743 )
2019
44
Hijacking of Embryonic Programs by Neural Crest-Derived Neuroblastoma: From Physiological Migration to Metastatic Dissemination. ( 30881286 )
2019
45
The small molecule Bcl-2/Mcl-1 inhibitor TW-37 shows single-agent cytotoxicity in neuroblastoma cell lines. ( 30885150 )
2019
46
Association between image-defined risk factors and neuroblastoma outcomes. ( 30885556 )
2019
47
Glutamine regulates mitochondrial uncoupling protein 2 to promote glutaminolysis in neuroblastoma cells. ( 30885735 )
2019
48
Clinically Relevant Biomarker Discovery in High-Risk Recurrent Neuroblastoma. ( 30886518 )
2019
49
68Ga-DOTA-TATE in Neuroblastoma With Marrow Involvement. ( 30889003 )
2019
50
Pre-application of arsenic trioxide may potentiate cytotoxic effects of vinorelbine/docetaxel on neuroblastoma SK-N-SH cells. ( 30889490 )
2019

Variations for Neuroblastoma 1

ClinVar genetic disease variations for Neuroblastoma 1:

6 (show top 50) (show all 529)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIF1B NM_015074.3(KIF1B): c.1937A> T (p.Glu646Val) single nucleotide variant risk factor rs121908161 GRCh37 Chromosome 1, 10357264: 10357264
2 KIF1B NM_015074.3(KIF1B): c.1937A> T (p.Glu646Val) single nucleotide variant risk factor rs121908161 GRCh38 Chromosome 1, 10297206: 10297206
3 KIF1B NM_015074.3(KIF1B): c.2480C> T (p.Thr827Ile) single nucleotide variant Likely benign rs121908162 GRCh37 Chromosome 1, 10384896: 10384896
4 KIF1B NM_015074.3(KIF1B): c.2480C> T (p.Thr827Ile) single nucleotide variant Likely benign rs121908162 GRCh38 Chromosome 1, 10324838: 10324838
5 KIF1B NM_015074.3(KIF1B): c.3649C> T (p.Pro1217Ser) single nucleotide variant Likely pathogenic rs121908163 GRCh37 Chromosome 1, 10406001: 10406001
6 KIF1B NM_015074.3(KIF1B): c.3649C> T (p.Pro1217Ser) single nucleotide variant Likely pathogenic rs121908163 GRCh38 Chromosome 1, 10345943: 10345943
7 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh37 Chromosome 1, 10425534: 10425534
8 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 GRCh38 Chromosome 1, 10365476: 10365476
9 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh37 Chromosome 12, 112888210: 112888210
10 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 GRCh38 Chromosome 12, 112450406: 112450406
11 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
12 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
13 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh37 Chromosome 12, 112888211: 112888211
14 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 GRCh38 Chromosome 12, 112450407: 112450407
15 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh37 Chromosome 2, 29432664: 29432664
16 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh38 Chromosome 2, 29209798: 29209798
17 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh37 Chromosome 2, 29445450: 29445450
18 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh38 Chromosome 2, 29222584: 29222584
19 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh37 Chromosome 2, 29443642: 29443642
20 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh38 Chromosome 2, 29220776: 29220776
21 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh37 Chromosome 2, 29445273: 29445273
22 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh38 Chromosome 2, 29222407: 29222407
23 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh37 Chromosome 2, 29432739: 29432739
24 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh38 Chromosome 2, 29209873: 29209873
25 BRCA1 NM_007294.3(BRCA1): c.2155A> G (p.Lys719Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs80357147 GRCh37 Chromosome 17, 41245393: 41245393
26 BRCA1 NM_007294.3(BRCA1): c.2155A> G (p.Lys719Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs80357147 GRCh38 Chromosome 17, 43093376: 43093376
27 BRCA2 NM_000059.3(BRCA2): c.8918G> A (p.Arg2973His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359143 GRCh37 Chromosome 13, 32953617: 32953617
28 BRCA2 NM_000059.3(BRCA2): c.8918G> A (p.Arg2973His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359143 GRCh38 Chromosome 13, 32379480: 32379480
29 SOS1 NM_005633.3(SOS1): c.571G> A (p.Glu191Lys) single nucleotide variant Uncertain significance rs886041241 GRCh37 Chromosome 2, 39281904: 39281904
30 SOS1 NM_005633.3(SOS1): c.571G> A (p.Glu191Lys) single nucleotide variant Uncertain significance rs886041241 GRCh38 Chromosome 2, 39054763: 39054763
31 PTPN11 NM_002834.4(PTPN11): c.215C> T (p.Ala72Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
32 PTPN11 NM_002834.4(PTPN11): c.215C> T (p.Ala72Val) single nucleotide variant Conflicting interpretations of pathogenicity rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
33 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
34 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
35 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
36 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
37 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
38 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
39 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
40 KIF1B NM_015074.3(KIF1B): c.285C> G (p.Ala95=) single nucleotide variant Benign rs12402052 GRCh37 Chromosome 1, 10318652: 10318652
41 KIF1B NM_015074.3(KIF1B): c.285C> G (p.Ala95=) single nucleotide variant Benign rs12402052 GRCh38 Chromosome 1, 10258594: 10258594
42 KIF1B NM_015074.3(KIF1B): c.4161A> G (p.Pro1387=) single nucleotide variant Benign/Likely benign rs12125492 GRCh37 Chromosome 1, 10421878: 10421878
43 KIF1B NM_015074.3(KIF1B): c.4161A> G (p.Pro1387=) single nucleotide variant Benign/Likely benign rs12125492 GRCh38 Chromosome 1, 10361820: 10361820
44 KIF1B NM_015074.3(KIF1B): c.5163C> A (p.Thr1721=) single nucleotide variant Benign rs11121552 GRCh37 Chromosome 1, 10435324: 10435324
45 KIF1B NM_015074.3(KIF1B): c.5163C> A (p.Thr1721=) single nucleotide variant Benign rs11121552 GRCh38 Chromosome 1, 10375266: 10375266
46 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh37 Chromosome 17, 7577096: 7577096
47 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh38 Chromosome 17, 7673778: 7673778
48 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh38 Chromosome 1, 10295776: 10295776
49 KIF1B NM_015074.3(KIF1B): c.1639+10C> T single nucleotide variant Benign rs3753037 GRCh37 Chromosome 1, 10355834: 10355834
50 PHOX2B NM_003924.3(PHOX2B): c.870C> A (p.Pro290=) single nucleotide variant Benign rs17885864 GRCh37 Chromosome 4, 41747899: 41747899

Copy number variations for Neuroblastoma 1 from CNVD:

7 (show top 50) (show all 232)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 13319 1 1 124300000 Amplification and lo ss Neuroblastoma
2 13325 1 1 124300000 Deletion Neuroblastoma
3 13344 1 1 125000000 Copy number Neuroblastoma
4 13349 1 1 125000000 Deletion Neuroblastoma
5 13355 1 1 125000000 Loss Neuroblastoma
6 13407 1 1 2300000 Copy number GNB1 Neuroblastoma
7 13408 1 1 2300000 Copy number SLC35E2 Neuroblastoma
8 13751 1 1 27800000 Loss Neuroblastoma
9 13762 1 1 28000000 Deletion Neuroblastoma
10 13837 1 10001852 10151200 Loss KIF1B Neuroblastoma
11 16476 1 125000000 249250621 Copy number CHD5 Neuroblastoma
12 16477 1 125000000 249250621 Copy number KIF1B Neuroblastoma
13 16597 1 128000000 247249719 Gain Neuroblastoma
14 16598 1 128000000 247249719 Gain Neuroblastoma
15 17283 1 142400000 148000000 Copy number NBPF23 Neuroblastoma
16 17374 1 142600000 147000000 Copy number NBPF1 Neuroblastoma
17 17375 1 142600000 147000000 Copy number NBPF15 Neuroblastoma
18 17376 1 142600000 147000000 Copy number NBPF3 Neuroblastoma
19 18773 1 147305744 147427061 Copy number NBPF Neuroblastoma
20 20614 1 153300000 247249719 Gain Neuroblastoma
21 20884 1 155000000 249250621 Gain Neuroblastoma
22 26022 1 195715155 196905060 Gain Neuroblastoma
23 27292 1 206429564 209469901 Gain Neuroblastoma
24 29290 1 2300000 12600000 Loss Neuroblastoma
25 29291 1 2300000 12600000 Loss Neuroblastoma
26 29292 1 2300000 12700000 Loss Neuroblastoma
27 32651 1 3815958 4146056 Amplification DFFB Neuroblastoma
28 32934 1 4056522 10472147 Loss Neuroblastoma
29 33588 1 46500000 51300000 Deletion Neuroblastoma
30 34972 1 5871399 5949729 Loss CHD5 Neuroblastoma
31 36107 1 7200000 16200000 Copy number Neuroblastoma
32 37032 1 84700000 88100000 Deletion Neuroblastoma
33 42798 10 40200000 135534747 Loss Neuroblastoma
34 43291 10 46100000 50100000 Gain Neuroblastoma
35 48305 11 1 10700000 Loss Neuroblastoma
36 48306 11 1 10700000 Loss Neuroblastoma
37 48334 11 1 2800000 Gain Neuroblastoma
38 49040 11 102400000 134452384 Deletion Neuroblastoma
39 49300 11 10515175 10701970 Amplification MRVI1 Neuroblastoma
40 49301 11 10515175 10701970 Amplification RNF141 Neuroblastoma
41 49302 11 10515175 10701970 Amplification XLKD1 Neuroblastoma
42 49698 11 110314720 118319416 Loss Neuroblastoma
43 50154 11 114581997 114912893 Loss CADM1 Neuroblastoma
44 51496 11 12700000 16200000 Copy number SOX6 Neuroblastoma
45 52328 11 16100000 21600000 Deletion Neuroblastoma
46 52785 11 19817525 19848438 Amplification NAV2 Neuroblastoma
47 52827 11 2043796 2201921 Amplification IGF2 Neuroblastoma
48 52828 11 2043796 2201921 Amplification INS Neuroblastoma
49 52829 11 2043796 2201921 Amplification TH Neuroblastoma
50 53355 11 2800000 10700000 Duplication LMO1 Neuroblastoma

Expression for Neuroblastoma 1

Search GEO for disease gene expression data for Neuroblastoma 1.

Pathways for Neuroblastoma 1

Pathways related to Neuroblastoma 1 according to KEGG:

38
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Neuroblastoma 1

Sources for Neuroblastoma 1

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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