NBLST1
MCID: NRB010
MIFTS: 66

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 57 74 6
Neuroblastoma 57 12 75 53 25 59 37 29 13 6 43 44 15 40 17
Nblst1 57 74
Nb 53 25
Neuroblastoma, Susceptibility to, Type 1 40
Neuroblastoma, Susceptibility to, 1 57
Neuroblastomas 15

Characteristics:

Orphanet epidemiological data:

59
neuroblastoma
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
somatic mutation
autosomal dominant

Miscellaneous:
incomplete penetrance
genetic heterogeneity
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:

32
neuroblastoma 1:
Inheritance autosomal dominant inheritance somatic mutation heterogeneous sporadic
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:769
OMIM 57 256700
KEGG 37 H00043
MeSH 44 D009447
NCIt 50 C3270
SNOMED-CT 68 87364003
MESH via Orphanet 45 C536408 D009447
ICD10 via Orphanet 34 C74.9
UMLS via Orphanet 73 C0027819 C2931189
Orphanet 59 ORPHA635
UMLS 72 C0027819

Summaries for Neuroblastoma 1

Genetics Home Reference : 25 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. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin. In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue. Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.

MalaCards based summary : Neuroblastoma 1, also known as neuroblastoma, is related to medulloblastoma and glioma. An important gene associated with Neuroblastoma 1 is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways is Transcriptional misregulation in cancer. The drugs Itraconazole and Nicotine have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, 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.

NIH Rare Diseases : 53 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 inherited mutation 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.

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)

MedlinePlus : 43 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

KEGG : 37
Neuroblastoma is a tumor derived from primitive cells of the sympathetic nervous system and is the most common solid tumor in childhood. Approximately one-half of children have localized tumors that can be cured with surgery alone. These favorable tumors are characterized by near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ligand, brain-derived neurotrophic factor (BDNF). These patients are usually older than 1 year of age, and have a poor long-term survival rate of approximately 30%.

UniProtKB/Swiss-Prot : 74 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 : 75 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 1166)
# Related Disease Score Top Affiliating Genes
1 medulloblastoma 33.9 TP53 MYCNOS MIR34A MIR17 FGFR1
2 glioma 33.2 TP53 MIR34A MIR184 MIR17 HAGLR FGFR1
3 astrocytoma 32.2 SNHG1 PTPN11 LINC00467 FGFR1
4 lung cancer 31.8 TP53 SNHG16 SNHG1 NME1 MIR34A HAGLR
5 gastric cancer 31.3 TP53 SNHG16 SNHG1 NME1 MIR34A HAGLR
6 ovarian cancer 31.3 TP53 SNHG16 NME1 NBAT1 MIR184 HAGLR
7 hepatocellular carcinoma 31.1 TP53 SNHG1 MIR34A HAGLR FGFR1 DBH-AS1
8 hematologic cancer 31.0 TP53 PTPN11 FGFR1 ALK
9 leukemia, chronic lymphocytic 2 30.8 TP53 PTPN11 MIR34A
10 olfactory neuroblastoma 12.6
11 neuroblastoma 2 12.6
12 neuroblastoma 3 12.6
13 cervical neuroblastoma 12.5
14 cerebral neuroblastoma 12.4
15 adrenal neuroblastoma 12.4
16 nijmegen breakage syndrome 12.4
17 differentiating neuroblastoma 12.3
18 neuroblastoma 4 12.3
19 neuroblastoma 5 12.3
20 extracranial neuroblastoma 12.3
21 neuroblastoma 6 12.3
22 nasal cavity olfactory neuroblastoma 12.3
23 spinal cord neuroblastoma 12.3
24 retroperitoneal neuroblastoma 12.3
25 neuroblastoma 7 12.3
26 obsolete: renal cell carcinoma associated with neuroblastoma 12.3
27 mediastinum neuroblastoma 12.2
28 retinoblastoma 12.0
29 nicolaides-baraitser syndrome 12.0
30 central hypoventilation syndrome, congenital 11.7
31 adrenal carcinoma 11.7
32 opsoclonus-myoclonus syndrome 11.7
33 weaver syndrome 11.6
34 ganglioneuroblastoma 11.6
35 lig4 syndrome 11.5
36 wilms tumor 1 11.5
37 myoclonic encephalopathy of infants 11.5
38 costello syndrome 11.5
39 nijmegen breakage syndrome-like disorder 11.5
40 cohen syndrome 11.4
41 duarte variant galactosemia 11.4
42 simpson-golabi-behmel syndrome 11.3
43 lung squamous cell carcinoma 11.2 TP53 SNHG1 PTPN11 FGFR1 ALK
44 hirschsprung disease ganglioneuroblastoma 11.1
45 parameningeal embryonal rhabdomyosarcoma 11.0 TP53 ALK
46 glial tumor 10.9
47 pleomorphic carcinoma 10.8 TP53 ALK
48 lung papillary adenocarcinoma 10.7 TP53 ALK
49 ganglioneuroma 10.7
50 gangliocytoma 10.7

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:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neoplasm of the nervous system 59 32 hallmark (90%) Very frequent (99-80%) HP:0004375
2 elevated urinary catecholamines 59 32 hallmark (90%) Very frequent (99-80%) HP:0011976
3 hypertension 32 HP:0000822
4 ataxia 32 HP:0001251
5 failure to thrive 32 HP:0001508
6 fever 32 HP:0001945
7 anemia 32 HP:0001903
8 abdominal pain 32 HP:0002027
9 weight loss 32 HP:0001824
10 abnormality of the thorax 32 HP:0000765
11 myoclonus 32 HP:0001336
12 diarrhea 32 HP:0002014
13 bone pain 32 HP:0002653
14 neuroblastoma 32 HP:0003006
15 ganglioneuroma 32 HP:0003005
16 abdominal mass 32 HP:0031500
17 skin nodule 32 HP:0200036
18 horner syndrome 32 HP:0002277
19 ganglioneuroblastoma 32 HP:0006747
20 opsoclonus 32 HP:0010543
21 spinal cord compression 32 HP:0002176
22 elevated urinary dopamine 32 HP:0011979
23 elevated urinary vanillylmandelic acid 32 HP:0011978
24 elevated urinary homovanillic acid 32 HP:0011977

Symptoms via clinical synopsis from OMIM:

57
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

DrugBank drugs 16 :

(show all 6)
# Drug Name Indication DrugBank ID
1 Cisplatin For the treatment of metastatic testicular tumors, metastatic ovarian tumors and advanced bladder cancer. DB00515
2 Doxorubicin Doxorubicin is used to produce regression in disseminated neoplastic conditions like acute lymphoblastic leukemia, acute myeloblastic leukemia, Wilms’ tumor, neuroblastoma, soft tissue and bone sarcomas, breast carcinoma, ovarian carcinoma, transitional cell bladder carcinoma, thyroid carcinoma, gastric carcinoma, Hodgkin’s disease, malignant lymphoma and bronchogenic carcinoma in which the small cell histologic type is the most responsive compared to other cell types. Doxorubicin is also indicated for use as a component of adjuvant therapy in women with evidence of axillary lymph node involvement following resection of primary breast cancer. DB00997
3 Etoposide For use in combination with other chemotherapeutic agents in the treatment of refractory testicular tumors and as first line treatment in patients with small cell lung cancer. Also used to treat other malignancies such as lymphoma, non-lymphocytic leukemia, and glioblastoma multiforme. DB00773
4 Iobenguane sulfate I-123 For use in the diagnostic imaging of adrenergically inervated tissues for the purposes of detecting metastatic pheochromocytoma or neuroblastoma [FDA Label]. Also used to assess the sympathetic inervation of the myocardium via determination of the heart to mediastinum ratio of radioactivity in patients with New York Heart Association class II or III heart failure. DB09546
5 Isotretinoin Isotretinoin is indicated to treat severe recalcitrant nodular acne and patients ≥12 years enrolled in the iPLEDGE program.[Label,L6579] DB00982
6 Vincristine Treatment of acute lymphocytic leukemia (ALL), Hodgkin lymphoma, non-Hodgkin lymphomas, Wilms' tumor, neuroblastoma, rhabdomyosarcoma. Liposomal vincristine is indicated for the treatment of relapsed Philadelphia chromosome-negative (Ph-) acute lymphoblastic leukemia (ALL). DB00541

Drugs for Neuroblastoma 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 421)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Itraconazole Approved, Investigational Phase 4 84625-61-6 55283
2
Nicotine Approved Phase 4 54-11-5 942 89594
3
Panitumumab Approved, Investigational Phase 4 339177-26-3 50070211
4
Docetaxel Approved, Investigational Phase 4 114977-28-5 148124
5
Carboplatin Approved Phase 4 41575-94-4 10339178 498142 38904
6
Trametinib Approved Phase 4 871700-17-3 11707110
7
Dabrafenib Approved, Investigational Phase 4 1195765-45-7 44462760 44516822
8
Tyrosine Approved, Investigational, Nutraceutical Phase 4 60-18-4 6057
9 14-alpha Demethylase Inhibitors Phase 4
10 Cytochrome P-450 CYP3A Inhibitors Phase 4
11 Cytochrome P-450 Enzyme Inhibitors Phase 4
12 Steroid Synthesis Inhibitors Phase 4
13
Hydroxyitraconazole Phase 4
14 Tubulin Modulators Phase 4
15 Antimitotic Agents Phase 4
16 Anti-HIV Agents Phase 4
17 Antiviral Agents Phase 4
18 Anti-Retroviral Agents Phase 4
19 Plerixafor octahydrochloride Phase 4
20
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
21
Ethanol Approved Phase 3 64-17-5 702
22
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
23
Vindesine Approved, Investigational Phase 3 59917-39-4, 53643-48-4 40839
24
Cobalt Approved, Experimental Phase 3 7440-48-4 104729
25
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
26
Ribavirin Approved Phase 3 36791-04-5 37542
27
Palivizumab Approved, Investigational Phase 3 188039-54-5
28
Captopril Approved Phase 3 62571-86-2 44093
29
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
30
Caspofungin Approved Phase 3 179463-17-3, 162808-62-0 468682 2826718
31
Acyclovir Approved Phase 3 59277-89-3 2022
32
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
33
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
34
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
35
Isotretinoin Approved Phase 3 4759-48-2 5282379 5538
36
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
37
Temozolomide Approved, Investigational Phase 3 85622-93-1 5394
38
Etoposide Approved Phase 2, Phase 3 33419-42-0 36462
39
Melphalan Approved Phase 2, Phase 3 148-82-3 460612 4053
40
Mycophenolic acid Approved Phase 3 24280-93-1 446541
41
Histamine Approved, Investigational Phase 3 51-45-6 774
42
Cyproheptadine Approved Phase 3 129-03-3 2913
43
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
44
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
45
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
46
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
47
Polyestradiol phosphate Approved Phase 3 28014-46-2
48
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
49
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
50
Serine Approved, Nutraceutical Phase 3 56-45-1 5951

Interventional clinical trials:

(show top 50) (show all 597)
# Name Status NCT ID Phase Drugs
1 Clinical Study to Evaluate the Efficacy of Prophylactic Itraconazole in High-Dose Chemotherapy and Autologous Hematopoietic Stem Cell Transplantation for Pediatric Solid Tumors Completed NCT00336531 Phase 4 itraconazole
2 G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor: a Prospective, Multicentre, Randomised Controlled Trial Recruiting NCT02933333 Phase 4
3 An Open Label, Multicenter, Non-Comparative, Phase IV Study of Panitumumab to Characterize Its Safety, Tolerability and Activity in Indian Subjects With Previously Treated Wild-Type RAS (KRAS and NRAS), Metastatic Colorectal Cancer Recruiting NCT02301962 Phase 4 Panitumumab
4 An Open Label, Multi-center Roll-over Study to Assess Long-term Effect in Pediatric Patients Treated With Tafinlar (Dabrafenib) and/or Mekinist (Trametinib) Not yet recruiting NCT03975829 Phase 4 dabrafenib;trametinib
5 GCSF Plus Plerixafor as First-line Treatment for Autologous Stem Cells Harvest in Children With Malignant Diseases in Need for High-dose Chemotherapy With Stem Cell Rescue. Not yet recruiting NCT02006225 Phase 4 Plerixafor
6 A Single Arm, Multi-center Study to Assess the Efficacy and Safety of Docetaxel Combined With Carboplatin Plus Anlotinib as First Line Treatment in Non-squamous Non-small-cell Lung Cancer (NSCLC) Not yet recruiting NCT03799601 Phase 4 Anlotinib;Docetaxel;Carboplatin
7 Randomized Study of Radiotherapy in Patients With Stage 2B/3 (INSS) Neuroblastoma in Children Over 1 Year of Age Unknown status NCT00276731 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
8 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
9 UKCCSG Stage IIB/3 (INSS) Neuroblastoma Pilot Study [ENSG VI (Pilot 2B/3)] Unknown status NCT00416676 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
10 European Infant Neuroblastoma Study Final Protocol Unknown status NCT00417053 Phase 3 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide phosphate;melphalan;vincristine sulfate
11 High Risk Neuroblastoma Study 1 Of Siop-Europe Unknown status NCT00030719 Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;isotretinoin;melphalan;vincristine sulfate
12 NB2004 Trial Protocol for Risk Adapted Treatment of Children With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
13 Prospective and Randomized Study of Fixed Versus Flexible Prophylactic Administration of Granulocyte Colony-Stimulating Factor (G-CSF) in Children With Cancer Unknown status NCT01987596 Phase 3
14 An Open-Label, Multicentre, Phase 3 Scintigraphy Study Assessing 123I-mIBG Uptake in Subjects Being Evaluated for Phaeochromocytoma or Neuroblastoma Completed NCT00126412 Phase 3 123I-mIBG (meta-iodobenzylguanidine)
15 Treatment for Infants and Children With Intermediate Risk Neuroblastoma: A Phase III Intergroup CCG/POG Study Completed NCT00003093 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
16 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
17 Combination Chemotherapy Followed by Stem Cell Transplant and Isotretinoin in Treating Young Patients With High-risk Neuroblastoma Completed NCT03042429 Phase 3 Cycles N8, N5 and N6;Cycles N5 and N6
18 A Randomized Phase III Study of Sodium Thiosulfate for the Prevention of Cisplatin-Induced Ototoxicity in Children Completed NCT00716976 Phase 3 sodium thiosulfate
19 A Comprehensive Safety Trial of Chimeric Antibody 14.18 (Ch14.18) With GM-CSF, IL-2 and Isotretinoin in High-Risk Neuroblastoma Patients Following Myeloablative Therapy Completed NCT01041638 Phase 3 Isotretinoin
20 Primary Surgical Therapy for Biologically Defined Low-Risk Neuroblastoma: A Pediatric Oncology Group/Children's Cancer Group Intergroup Study Completed NCT00003119 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
21 PHASE III MULTICENTRE TRIAL OF TREATMENT OF NEUROBLASTOMA IN CHILDREN AND ADOLESCENTS Completed NCT00002802 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;mesna;vincristine sulfate;vindesine
22 Response- and Biology-Based Therapy for Intermediate-Risk Neuroblastoma Completed NCT00499616 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride;Isotretinoin;Filgrastim
23 Comparison of High Dose Rapid Schedule With Conventional Schedule Chemotherapy for Stage 4 Neuroblastoma Over the Age of One Year Completed NCT00365755 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;melphalan;vincristine sulfate
24 Phase III Randomized Trial of Single vs. Tandem Myeloablative Consolidation Therapy for High-Risk Neuroblastoma Completed NCT00567567 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate Liposome
25 A Randomized Study of Purged Versus Unpurged Peripheral Blood Stem Cell Transplant Following Dose Intensive Induction Therapy for High Risk Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
26 HSCT-CHESS to Enhance Hematopoietic Transplant Recovery Completed NCT00782145 Phase 3
27 Music Video and Adolescent/Young Adult Resilience During Transplant Completed NCT00305851 Phase 3
28 A Randomized Double-Blind Placebo-Controlled Phase III Study To Evaluate The Safety And Efficacy Of Palivizumab Combined With Aerosolized Ribavirin Compared To Ribavirin Alone To Treat RSV Pneumonia In Patients With Bone Marrow Transplants (BMT) Completed NCT00014391 Phase 3 ribavirin
29 Phase III Study of Captopril in Patients Undergoing Autologous Bone Marrow/Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
30 A Randomized, Comparative Study of Itraconazole Versus Fluconazole for Prevention of Aspergillus Infections in Peripheral Blood Stem Cell and Marrow Transplant Recipients Completed NCT00003883 Phase 3 fluconazole;itraconazole
31 INSPIRE: An Internet-based RCT for Long-term Survivors of Hematopoietic Stem Cell Transplantation Completed NCT00799461 Phase 3
32 A Randomized Double Blinded Trial of Topical Caphosol to Prevent Oral Mucositis in Children Undergoing Hematopoietic Stem Cell Transplantation Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
33 A Phase III Multicenter Study of Cytomegalovirus Prophylaxis With Valacyclovir for the Prevention of Serious Fungal and Bacterial Infections Among Cytomegalovirus Seronegative Recipients of Cytomegalovirus Seropositive Sx Stem Cell Transplants Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
34 A Multicenter, Double-Blind, Randomized, Comparative Study To Evaluate The Safety, Tolerability, And Efficacy Of MK-0991 Versus (Amphotericin B) Liposome For Injection As Empirical Therapy In Patients With Persistent Fever And Neutropenia Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
35 A Strategic Study to Determine the Optimal Moment to Initiate Systemic Antifungal Therapy With Ambisome in Granulocytopenic Cancer Patients With Unexplained Fever Refractory to Empirical Antibacterials Completed NCT00003938 Phase 3 liposomal amphotericin B
36 Application of the Microculture Kinetic (MiCK) Assay for Apoptosis to Testing Drug Sensitivity of Ovarian, Fallopian and Primary Peritoneal Adenocarcinomas Completed NCT00443196 Phase 2, Phase 3
37 A Randomized Placebo-Controlled, Crossover-Design Study of the Effects of Low Dose Naltrexone on Quality of Life as Measured by the Multiple Sclerosis Quality of Life Inventory (MSQLI54) Completed NCT00501696 Phase 3 4.5 mg Naltrexone;Naltrexone
38 Application of the Microculture Kinetic (MiCK) Assay for Apoptosis to Drug Testing Sensitivity of Solid Tumors Completed NCT00243685 Phase 2, Phase 3
39 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
40 European Low and Intermediate Risk Neuroblastoma Protocol Recruiting NCT01728155 Phase 3 chemotherapy
41 Utilizing Response- and Biology-Based Risk Factors to Guide Therapy in Patients With Non-High-Risk Neuroblastoma Recruiting NCT02176967 Phase 3 Carboplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide
42 A Multicenter Phase 2/3 Trial of the Efficacy and Safety of Intracerebroventricular Radioimmunotherapy Using 131I-omburtamab for Neuroblastoma Central Nervous System/Leptomeningeal Metastases Recruiting NCT03275402 Phase 2, Phase 3
43 Multinational European Trial for Children With the Opsoclonus Myoclonus Syndrome / Dancing Eye Syndrome Recruiting NCT01868269 Phase 3 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
44 High Risk Neuroblastoma Study 1 of SIOP-Europe (SIOPEN) Recruiting NCT01704716 Phase 3 Vincristine;Aldesleukin;ch14.18/CHO;Carboplatin;Etoposide;Cisplatin;Cyclophosphamide;Doxorubicin;G-CSF;Busulfan;Melphalan
45 A Phase 3 Study of 131I-Metaiodobenzylguanidine (131I-MIBG) or Crizotinib Added to Intensive Therapy for Children With Newly Diagnosed High-Risk Neuroblastoma (NBL) Recruiting NCT03126916 Phase 3 Busulfan;Carboplatin;Cisplatin;Crizotinib;Cyclophosphamide;Dexrazoxane Hydrochloride;Doxorubicin Hydrochloride;Etoposide Phosphate;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate
46 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
47 Autologous Stem Cell Rescue With CD133+ Selected Hematopoietic Progenitor Cells in Patients With High-Risk Neuroblastoma Terminated NCT00539500 Phase 2, Phase 3 Carboplatin;Etoposide;Melphalan
48 Randomized, Double Blinded, Placebo-Controlled Trial of Antibacterial Prophylaxis for the Prevention of Bacterial Infections in the Post-Engraftment Phase After Allogeneic Hematopoeitic Stem Cell Transplantation Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
49 A Phase III Randomized Study of Neuradiab in Combination With External Beam Radiation and Temozolomide Versus External Beam Radiation and Temozolomide in Patients With Newly Diagnosed Glioblastoma Multiforme Terminated NCT00615186 Phase 3 Neuradiab + Radiotherapy + Temozolomide;Radiation Therapy + Temozolomide
50 A Randomized Study to Evaluate The Efficacy of Mycophenolate Mofetil Added to The Systemic Immunosuppressive Regimen First Used For Treatment of Chronic Graft-Versus-Host Disease Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo

Search NIH Clinical Center for Neuroblastoma 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cisplatin
Doxorubicin
Etoposide
Iobenguane sulfate I-123
Isotretinoin
Vincristine

Cochrane evidence based reviews: neuroblastoma

Genetic Tests for Neuroblastoma 1

Genetic tests related to Neuroblastoma 1:

# Genetic test Affiliating Genes
1 Neuroblastoma 29 KIF1B NME1

Anatomical Context for Neuroblastoma 1

MalaCards organs/tissues related to Neuroblastoma 1:

41
Bone, Brain, Bone Marrow, T Cells, Testes, Adrenal Gland, Spinal Cord

Publications for Neuroblastoma 1

Articles related to Neuroblastoma 1:

(show top 50) (show all 30035)
# Title Authors PMID Year
1
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 8 71
18334619 2008
2
A mechanistic classification of clinical phenotypes in neuroblastoma. 38 8
30523111 2018
3
Telomerase activation by genomic rearrangements in high-risk neuroblastoma. 38 8
26466568 2015
4
The genetic landscape of high-risk neuroblastoma. 38 8
23334666 2013
5
Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma. 38 8
23202128 2013
6
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 38 71
22071890 2012
7
Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes. 38 8
22367537 2012
8
miR-380-5p represses p53 to control cellular survival and is associated with poor outcome in MYCN-amplified neuroblastoma. 38 8
20871609 2010
9
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 38 8
20503330 2010
10
ALK-Related Neuroblastic Tumor Susceptibility 38 71
20301782 2010
11
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 38 71
18923523 2008
12
Oncogenic mutations of ALK kinase in neuroblastoma. 38 71
18923524 2008
13
Activating mutations in ALK provide a therapeutic target in neuroblastoma. 38 71
18923525 2008
14
Identification of ALK as a major familial neuroblastoma predisposition gene. 38 71
18724359 2008
15
Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. 38 8
18463370 2008
16
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. 38 71
16691592 2006
17
Potentiation of neuroblastoma metastasis by loss of caspase-8. 38 8
16397500 2006
18
Chromosome 1p and 11q deletions and outcome in neuroblastoma. 38 8
16306521 2005
19
A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. 38 8
16079250 2005
20
Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. 38 71
15024693 2004
21
Homozygous inactivation of NF1 gene in a patient with familial NF1 and disseminated neuroblastoma. 38 8
12687660 2003
22
Screening of infants and mortality due to neuroblastoma. 38 8
11932470 2002
23
Neuroblastoma screening at one year of age. 38 8
11932471 2002
24
Neuroblastoma within a congenital orbital teratoma. 38 8
11831928 2002
25
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours. 38 8
11870543 2002
26
Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. 38 8
10087945 1999
27
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. 38 8
9618176 1998
28
Homozygous deletion of the neurofibromatosis-1 gene in the tumor of a patient with neuroblastoma. 38 8
9169039 1997
29
Familial predisposition to neuroblastoma does not map to chromosome band 1p36. 38 8
8758905 1996
30
A region of consistent deletion in neuroblastoma maps within human chromosome 1p36.2-36.3. 38 8
7777541 1995
31
Molecular characterization of a (1;10)(p22;q21) constitutional translocation from a patient with neuroblastoma. 38 8
7621412 1995
32
Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification. 38 8
7633401 1995
33
Nm23-H1 mutation in neuroblastoma. 38 8
8047138 1994
34
Recurrent 1;17 translocations in human neuroblastoma reveal nonhomologous mitotic recombination during the S/G2 phase as a novel mechanism for loss of heterozygosity. 38 8
8037211 1994
35
Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification. 38 8
8102298 1993
36
Preferential amplification of the paternal allele of the N-myc gene in human neuroblastomas. 38 8
8102299 1993
37
Neurofibromatosis type 1 gene mutations in neuroblastoma. 38 8
8490657 1993
38
Constitutional 1p36 deletion in a child with neuroblastoma. 38 8
8434586 1993
39
Deletion mapping of chromosomes 14q and 1p in human neuroblastoma. 38 8
1594247 1992
40
Dissociation of suppression of tumorigenicity and differentiation in vitro effected by transfer of single human chromosomes into human neuroblastoma cells. 38 8
1679663 1991
41
Molecular evaluation of abnormalities of the short arm of chromosome 1 in neuroblastoma. 38 8
1980608 1990
42
Neuroblastoma consensus deletion maps to 1p36.1-2. 38 8
2487156 1989
43
Chromosome 1 deletions in human neuroblastomas: generation and fine mapping of microclones from the distal 1p region. 38 8
2535035 1989
44
Loss of heterozygosity for the short arm of chromosome 1 in human neuroblastomas: correlation with N-myc amplification. 38 8
2566996 1989
45
Frequent loss of heterozygosity on chromosome 14q in neuroblastoma. 38 8
2563671 1989
46
Molecular analysis of chromosome 1 abnormalities in neuroblastoma. 38 8
2776489 1989
47
Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. 38 8
6700732 1984
48
Amplified DNA with limited homology to myc cellular oncogene is shared by human neuroblastoma cell lines and a neuroblastoma tumour. 38 8
6888561 1983
49
Specific DNA sequence amplification in human neuroblastoma cells. 38 8
6577451 1983
50
Chromosomal assignment of a family of human oncogenes. 38 8
6576347 1983

Variations for Neuroblastoma 1

ClinVar genetic disease variations for Neuroblastoma 1:

6 (show top 50) (show all 264)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FGFR3 NM_000142.4(FGFR3): c.991T> C (p.Phe331Leu) single nucleotide variant other rs1246952737 4:1805479-1805479 4:1803752-1803752
2 MAP2K4 NM_001281435.2(MAP2K4): c.571C> G (p.Leu191Val) single nucleotide variant other rs1555550018 17:12011131-12011131 17:12107814-12107814
3 MAP2K7 NM_145185.4(MAP2K7): c.752T> C (p.Leu251Pro) single nucleotide variant other rs1555701191 19:7975941-7975941 19:7911056-7911056
4 MET NM_001127500.3(MET): c.985C> A (p.Leu329Ile) single nucleotide variant other rs1554378983 7:116340123-116340123 7:116700069-116700069
5 NTRK2 NM_006180.4(NTRK2): c.970T> A (p.Leu324Met) single nucleotide variant other rs201362502 9:87342685-87342685 9:84727770-84727770
6 PHF6 NM_032335.3(PHF6): c.119C> A (p.Ala40Glu) single nucleotide variant other rs1556013242 X:133511766-133511766 X:134377736-134377736
7 RBM15 NM_022768.4(RBM15): c.1912C> A (p.Gln638Lys) single nucleotide variant other rs1553224979 1:110883939-110883939 1:110341317-110341317
8 TSC2 NM_000548.5(TSC2): c.3284+1G> T single nucleotide variant other rs45517289 16:2129430-2129430 16:2079429-2079429
9 ALK NM_004304.5(ALK): c.3512T> C (p.Ile1171Thr) single nucleotide variant Pathogenic rs1057519698 2:29445213-29445213 2:29222347-29222347
10 FANCA NM_000135.4(FANCA): c.4261-2A> C single nucleotide variant Pathogenic rs915983602 16:89805118-89805118 16:89738710-89738710
11 ALK NM_004304.5(ALK): c.3735C> G (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 2:29436858-29436858 2:29213992-29213992
12 ALK NM_004304.5(ALK): c.3521T> G (p.Phe1174Cys) single nucleotide variant Pathogenic rs1057519697 2:29443696-29443696 2:29220830-29220830
13 PTPN11 NM_002834.4(PTPN11): c.226G> A (p.Glu76Lys) single nucleotide variant Pathogenic rs121918464 12:112888210-112888210 12:112450406-112450406
14 PTPN11 NM_002834.4(PTPN11): c.227A> G (p.Glu76Gly) single nucleotide variant Pathogenic rs121918465 12:112888211-112888211 12:112450407-112450407
15 PTPN11 NM_002834.4(PTPN11): c.227A> C (p.Glu76Ala) single nucleotide variant Pathogenic rs121918465 12:112888211-112888211 12:112450407-112450407
16 ALK NM_004304.5(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 2:29445273-29445273 2:29222407-29222407
17 ALK NM_004304.5(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
18 ALK NM_004304.5(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 2:29436860-29436860 2:29213994-29213994
19 TP53 NM_000546.5(TP53): c.841G> T (p.Asp281Tyr) single nucleotide variant Pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
20 TP53 NM_000546.5(TP53): c.841G> A (p.Asp281Asn) single nucleotide variant Pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
21 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 17:7577096-7577096 17:7673778-7673778
22 ALK NM_004304.5(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 2:29432655-29432655 2:29209789-29209789
23 ALK NM_004304.5(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 2:29436859-29436859 2:29213993-29213993
24 ALK NM_004304.5(ALK): c.3520T> A (p.Phe1174Ile) single nucleotide variant Pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
25 FGFR1 NM_023110.2(FGFR1): c.1638C> A (p.Asn546Lys) single nucleotide variant Pathogenic rs779707422 8:38274849-38274849 8:38417331-38417331
26 KIF1B NM_015074.3(KIF1B): c.4442G> A (p.Ser1481Asn) single nucleotide variant Pathogenic,risk factor rs121908164 1:10425534-10425534 1:10365476-10365476
27 ALK NM_004304.5(ALK): c.3512T> A (p.Ile1171Asn) single nucleotide variant Pathogenic rs1057519698 2:29445213-29445213 2:29222347-29222347
28 ALK NM_004304.5(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 2:29436860-29436860 2:29213994-29213994
29 ALK NM_004304.5(ALK): c.3522C> G (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 2:29443695-29443695 2:29220829-29220829
30 ALK NM_004304.5(ALK): c.3522C> A (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 2:29443695-29443695 2:29220829-29220829
31 ALK NM_004304.5(ALK): c.3520T> C (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
32 PTPN11 NM_002834.4(PTPN11): c.214G> A (p.Ala72Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 12:112888198-112888198 12:112450394-112450394
33 TP53 NM_000546.5(TP53): c.842A> T (p.Asp281Val) single nucleotide variant Pathogenic/Likely pathogenic rs587781525 17:7577096-7577096 17:7673778-7673778
34 ALK NM_004304.5(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 2:29432739-29432739 2:29209873-29209873
35 ALK NM_004304.5(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 2:29432664-29432664 2:29209798-29209798
36 ALK NM_004304.5(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 2:29445450-29445450 2:29222584-29222584
37 ALK NM_004304.5(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 2:29443642-29443642 2:29220776-29220776
38 TP53 NM_000546.5(TP53): c.841G> C (p.Asp281His) single nucleotide variant Likely pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
39 TP53 NM_000546.5(TP53): c.842A> C (p.Asp281Ala) single nucleotide variant Likely pathogenic rs587781525 17:7577096-7577096 17:7673778-7673778
40 ALK NM_004304.5(ALK): c.3733T> C (p.Phe1245Leu) single nucleotide variant Likely pathogenic rs281864720 2:29436860-29436860 2:29213994-29213994
41 MYC NM_002467.6(MYC): c.218C> T (p.Thr73Ile) single nucleotide variant Likely pathogenic rs756091827 8:128750681-128750681 8:127738435-127738435
42 ALK NM_004304.5(ALK): c.3824G> T (p.Arg1275Leu) single nucleotide variant Likely pathogenic rs113994087 2:29432664-29432664 2:29209798-29209798
43 FGFR1 NM_023110.2(FGFR1): c.1636A> G (p.Asn546Asp) single nucleotide variant Likely pathogenic rs1057519898 8:38274851-38274851 8:38417333-38417333
44 FGFR1 NM_023110.2(FGFR1): c.1543A> G (p.Met515Val) single nucleotide variant Likely pathogenic rs1057519899 8:38275397-38275397 8:38417879-38417879
45 PIK3CA NM_006218.4(PIK3CA): c.331A> G (p.Lys111Glu) single nucleotide variant Likely pathogenic rs1057519933 3:178916944-178916944 3:179199156-179199156
46 PIK3CA NM_006218.4(PIK3CA): c.333G> C (p.Lys111Asn) single nucleotide variant Likely pathogenic rs1057519934 3:178916946-178916946 3:179199158-179199158
47 PIK3CA NM_006218.4(PIK3CA): c.332A> G (p.Lys111Arg) single nucleotide variant Likely pathogenic rs1057519935 3:178916945-178916945 3:179199157-179199157
48 ALK NM_004304.5(ALK): c.3497T> G (p.Met1166Arg) single nucleotide variant Likely pathogenic rs1057520019 2:29445228-29445228 2:29222362-29222362
49 KIF1B NM_015074.3(KIF1B): c.3649C> T (p.Pro1217Ser) single nucleotide variant Likely pathogenic rs121908163 1:10406001-10406001 1:10345943-10345943
50 KIF1B NM_015074.3(KIF1B): c.1937A> T (p.Glu646Val) single nucleotide variant risk factor rs121908161 1:10357264-10357264 1:10297206-10297206

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:

37
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

GO Terms for Neuroblastoma 1

Biological processes related to Neuroblastoma 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hypoxia GO:0071456 9.13 TP53 MIR34A MIR17
2 positive regulation of cardiac muscle cell apoptotic process GO:0010666 8.62 MIR34A MIR17

Sources for Neuroblastoma 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
45 MESH via Orphanet
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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 TGDB
71 Tocris
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73 UMLS via Orphanet
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