NBLST2
MCID: NRB015
MIFTS: 28

Neuroblastoma 2 (NBLST2) malady

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

Aliases & Classifications for Neuroblastoma 2

Aliases & Descriptions for Neuroblastoma 2:

Name: Neuroblastoma 2 54 66 29
Neuroblastoma with Hirschsprung Disease 54 13
Nblst2 66

Characteristics:

HPO:

32
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613013
MeSH 42 D009447

Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 66 Neuroblastoma 2: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

MalaCards based summary : Neuroblastoma 2, also known as neuroblastoma with hirschsprung disease, is related to hirschsprung disease ganglioneuroblastoma and neuroblastoma, and has symptoms including aganglionic megacolon, ganglioneuroma and ganglioneuroblastoma. An important gene associated with Neuroblastoma 2 is PHOX2B (Paired Like Homeobox 2b). The drugs Carboplatin and Cisplatin have been mentioned in the context of this disorder.

Description from OMIM: 613013

Related Diseases for Neuroblastoma 2

Diseases in the Neuroblastoma family:

Neuroblastoma 6 Neuroblastoma 3
Neuroblastoma 5 Neuroblastoma 2
Neuroblastoma 4

Diseases related to Neuroblastoma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hirschsprung disease ganglioneuroblastoma 11.0
2 neuroblastoma 9.5

Symptoms & Phenotypes for Neuroblastoma 2

Clinical features from OMIM:

613013

Human phenotypes related to Neuroblastoma 2:

32
id Description HPO Frequency HPO Source Accession
1 aganglionic megacolon 32 HP:0002251
2 ganglioneuroma 32 HP:0003005
3 ganglioneuroblastoma 32 HP:0006747

Drugs & Therapeutics for Neuroblastoma 2

Drugs for Neuroblastoma 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 368)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
2
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
3
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
4
Etoposide Approved Phase 3,Phase 2,Phase 1 33419-42-0 36462
5
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1 2068-78-2, 57-22-7 5978
6
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
7
Isotretinoin Approved Phase 3,Phase 1,Phase 2 4759-48-2 5538 5282379
8
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
9
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1 119413-54-6, 123948-87-8 60700
10
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
11
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
12
Melphalan Approved Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
13
Vindesine Approved Phase 3,Phase 2 59917-39-4, 53643-48-4 40839
14
Aldesleukin Approved Phase 3,Phase 2,Phase 1 85898-30-2, 110942-02-4
15
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
16
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
17
Thiotepa Approved Phase 3,Phase 2,Phase 1 52-24-4 5453
18
Mechlorethamine Approved Phase 3,Phase 2,Phase 1 51-75-2 4033
19
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
20 Sodium thiosulfate Approved Phase 3
21
Fluconazole Approved Phase 3 86386-73-4 3365
22
Itraconazole Approved, Investigational Phase 3 84625-61-6 55283
23
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2 22916-47-8 4189
24
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
25
Caspofungin Approved Phase 3,Phase 2 179463-17-3, 162808-62-0 468682 2826718
26
Palivizumab Approved, Investigational Phase 3 188039-54-5
27
Ribavirin Approved Phase 3 36791-04-5 37542
28
Captopril Approved Phase 3 62571-86-2 44093
29
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2 50-02-2 5743
30
Crizotinib Approved Phase 3,Phase 2,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
31
Succinylcholine Approved Phase 3 306-40-1 5314
32
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
33
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
34
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
35
Norgestimate Approved Phase 3 35189-28-7 6540478
36
Cyproheptadine Approved Phase 3 129-03-3 2913
37
Histamine Approved, Investigational Phase 3 75614-87-8, 51-45-6 774
38
Mycophenolate mofetil Approved, Investigational Phase 3,Phase 2,Phase 1 128794-94-5 5281078
39
Mycophenolic acid Approved Phase 3,Phase 2,Phase 1 24280-93-1 446541
40
Tretinoin Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 302-79-4 5538
41
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
42
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
43 Alkylating Agents Phase 3,Phase 2,Phase 1
44 Antimitotic Agents Phase 3,Phase 2,Phase 1
45 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
46 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
47 Antirheumatic Agents Phase 3,Phase 2,Phase 1
48 Etoposide phosphate Phase 3,Phase 2,Phase 1
49 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
50 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 389)
id Name Status NCT ID Phase
1 Combination Chemotherapy and Surgery With or Without Radiation Therapy in Treating Patients With Stage 2 or Stage 3 Neuroblastoma Unknown status NCT00416676 Phase 3
2 Combination Chemotherapy Followed By Surgery With or Without Radiation Therapy in Treating Young Patients With Stage II or Stage III Neuroblastoma Unknown status NCT00276731 Phase 3
3 Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma Unknown status NCT00499616 Phase 3
4 Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma Unknown status NCT00410631 Phase 3
5 Monoclonal Antibody Ch14.18, Sargramostim, Aldesleukin, and Isotretinoin After Autologous Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT01041638 Phase 3
6 Surgery in Treating Children With Neuroblastoma Completed NCT00003119 Phase 3
7 Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT00026312 Phase 3
8 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3
9 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3
10 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3
11 Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications Completed NCT00799461 Phase 3
12 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3
13 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3
14 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3
15 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
16 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3
17 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3
18 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3
19 High Risk Neuroblastoma Study 1.7 of SIOP-Europe (SIOPEN) Recruiting NCT01704716 Phase 3
20 European Low and Intermediate Risk Neuroblastoma Protocol Recruiting NCT01728155 Phase 3
21 Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma Recruiting NCT02176967 Phase 3
22 Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg)Opsoclonus Myoclonus Syndrome/Dancing Eye Syndrome (OMS/DES) in Children With and Without Neuroblastoma (NBpos and NBneg) Recruiting NCT01868269 Phase 3
23 Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma Active, not recruiting NCT00567567 Phase 3
24 Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3
25 Iobenguane I-131 or Crizotinib and Standard Therapy in Treating Younger Patients With Newly-Diagnosed High-Risk Neuroblastoma or Ganglioneuroblastoma Not yet recruiting NCT03126916 Phase 3
26 Autologous Stem Cell Rescue With CD133+ Selected Cells in High-Risk Neuroblastoma Terminated NCT00539500 Phase 2, Phase 3
27 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3
28 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3
29 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3
30 CH14.18 1021 Antibody and IL2 After Haplo SCT in Children With Relapsed Neuroblastoma Unknown status NCT02258815 Phase 2
31 Interleukin-2 in Treating Children With Stage IV Neuroblastoma Who Have Received Induction Therapy and Peripheral Stem Cell Transplantation Unknown status NCT00003743 Phase 2
32 Long Term Continuous Infusion ch14.18/CHO Plus s.c. Aldesleukin (IL-2) Unknown status NCT01701479 Phase 1, Phase 2
33 Antineoplaston Therapy in Treating Patients With Metastatic, Recurrent, or Refractory Neuroblastoma Unknown status NCT00003513 Phase 2
34 Surgery in Treating Patients With Neuroblastoma Unknown status NCT00003122 Phase 2
35 Observation of Young Patients With Localized Neuroblastoma Who Have Undergone Surgery Only Unknown status NCT00416559 Phase 2
36 Topotecan, Vincristine, and Doxorubicin in Treating Young Patients With Refractory Stage 4 Neuroblastoma Unknown status NCT00392340 Phase 2
37 Haplo-identical Hematopoietic Stem Cell Transplantation Following Reduced-intensity Conditioning in Children With Neuroblastoma Unknown status NCT01156350 Phase 2
38 131I-MIBG With Myeloablative Chemotherapy and Autologous Stem Cell Transplantation for the Treatment of High-risk Neuroblastoma Unknown status NCT00798148 Phase 1, Phase 2
39 Chemotherapy and Surgery Followed by Peripheral Stem Cell Transplantation in Treating Patients With Metastatic Neuroblastoma Unknown status NCT00024193 Phase 2
40 CHP677: I-Metaiodobenzylguanidine (I-MIBG) Therapy for Refractory Neuroblastoma: a Phase II Study Unknown status NCT00013806 Phase 2
41 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2
42 Pharmacokinetic Study of Carboplatin in Pediatric Hematopoietic Stem Cell Transplantation Unknown status NCT02339753 Phase 2
43 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2
44 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2
45 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2
46 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
47 Light-Emitting Diode Therapy in Preventing Mucositis in Children Receiving Chemotherapy With or Without Radiation Therapy Before Bone Marrow Transplantation Unknown status NCT00036712 Phase 2
48 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2
49 hu14.18-Interleukin-2 Fusion Protein in Treating Young Patients With Recurrent or Refractory Neuroblastoma Completed NCT00082758 Phase 2
50 Biological Therapy, Sargramostim, and Isotretinoin in Treating Patients With Relapsed or Refractory Neuroblastoma Completed NCT01334515 Phase 2

Search NIH Clinical Center for Neuroblastoma 2

Genetic Tests for Neuroblastoma 2

Genetic tests related to Neuroblastoma 2:

id Genetic test Affiliating Genes
1 Neuroblastoma 2 29

Anatomical Context for Neuroblastoma 2

Publications for Neuroblastoma 2

Articles related to Neuroblastoma 2:

id Title Authors Year
1
Isolated intracranial metastasis of neuroblastoma 2 years after completion of therapy. ( 9124060 )
1997

Variations for Neuroblastoma 2

ClinVar genetic disease variations for Neuroblastoma 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHOX2B NM_003924.3(PHOX2B): c.299G> T (p.Arg100Leu) single nucleotide variant risk factor rs104893855 GRCh37 Chromosome 4, 41749496: 41749496
2 PHOX2B NM_003924.3(PHOX2B): c.590G> A (p.Gly197Asp) single nucleotide variant risk factor rs104893856 GRCh37 Chromosome 4, 41748179: 41748179

Expression for Neuroblastoma 2

Search GEO for disease gene expression data for Neuroblastoma 2.

Pathways for Neuroblastoma 2

GO Terms for Neuroblastoma 2

Sources for Neuroblastoma 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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