MCID: NRB015
MIFTS: 32

Neuroblastoma 2

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

Aliases & Classifications for Neuroblastoma 2

MalaCards integrated aliases for Neuroblastoma 2:

Name: Neuroblastoma 2 54 71 29
Neuroblastoma with Hirschsprung Disease 54 13
Nblst2 71

Characteristics:

HPO:

32
neuroblastoma 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neuroblastoma 2

UniProtKB/Swiss-Prot : 71 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. Affiliated tissues include bone, t cells and bone marrow.

Description from OMIM: 613013

Related Diseases for Neuroblastoma 2

Diseases in the Neuroblastoma family:

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

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 occasional (7.5%) HP:0002251
2 ganglioneuroma 32 very rare (1%) HP:0003005
3 ganglioneuroblastoma 32 very rare (1%) HP:0006747

Drugs & Therapeutics for Neuroblastoma 2

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

(show top 50) (show all 312)
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
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1,Early Phase 1 4342-03-4 5351166
7
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
8
Ifosfamide Approved Phase 3,Phase 2,Phase 1 3778-73-2 3690
9
Isotretinoin Approved Phase 3,Phase 1,Phase 2 4759-48-2 5538 5282379
10
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
11
Melphalan Approved Phase 3,Phase 2,Phase 1 148-82-3 4053 460612
12
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1 119413-54-6, 123948-87-8 60700
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 Thiotepa Approved Phase 3,Phase 2,Phase 1 52-24-4 5453
16
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1 55-98-1 2478
17
rituximab Approved Phase 3,Phase 2,Phase 1 174722-31-7 10201696
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
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
21
Crizotinib Approved Phase 3,Phase 2,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
22
Tretinoin Approved, Investigational, Nutraceutical Phase 3,Phase 1,Phase 2 302-79-4 5538
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 11103-57-4, 68-26-8 445354
24
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
25
Iodine Investigational Phase 2, Phase 3, Phase 1 7553-56-2 807
26 Alkylating Agents Phase 3,Phase 2,Phase 1,Early Phase 1
27 Antimitotic Agents Phase 3,Phase 2,Phase 1
28 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Early Phase 1
29 Antirheumatic Agents Phase 3,Phase 2,Phase 1
30 Etoposide phosphate Phase 3,Phase 2,Phase 1
31 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
32 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
33 3-Iodobenzylguanidine Phase 3,Phase 1,Phase 2
34 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
35 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
36 Dermatologic Agents Phase 3,Phase 1,Phase 2
37 Isophosphamide mustard Phase 3,Phase 2,Phase 1
38 Radiopharmaceuticals Phase 3,Phase 1,Phase 2
39 topoisomerase I inhibitors Phase 3,Phase 2,Phase 1,Early Phase 1
40 Analgesics Phase 3,Phase 2,Phase 1
41 Analgesics, Non-Narcotic Phase 3,Phase 2,Phase 1
42 Antibodies Phase 3,Phase 2,Phase 1
43 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
44 Anti-HIV Agents Phase 3,Phase 2,Phase 1
45 Anti-Infective Agents Phase 3,Phase 2,Phase 1
46 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
47 Antiviral Agents Phase 3,Phase 2,Phase 1
48 Immunoglobulins Phase 3,Phase 2,Phase 1
49 Interleukin-2 Phase 3,Phase 2,Phase 1
50 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 336)

id Name Status NCT ID Phase Drugs
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 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
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 carboplatin;cisplatin;cyclophosphamide;etoposide;vincristine sulfate
3 Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
4 Monoclonal Antibody Ch14.18, Sargramostim, Aldesleukin, and Isotretinoin After Autologous Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT01041638 Phase 3 Isotretinoin
5 Surgery in Treating Children With Neuroblastoma Completed NCT00003119 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
6 Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma Completed NCT00567567 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate Liposome
7 Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma Completed NCT00499616 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride;Isotretinoin;Filgrastim
8 Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT00026312 Phase 3 Isotretinoin
9 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
10 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
11 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 sodium thiosulfate
12 High Risk Neuroblastoma Study 1.7 of SIOP-Europe (SIOPEN) Recruiting NCT01704716 Phase 3 Vincristine;Aldesleukin;ch14.18/CHO;Carboplatin;Etoposide;Cisplatin;Cyclophosphamide;Doxorubicin;G-CSF;Busulfan;Melphalan
13 European Low and Intermediate Risk Neuroblastoma Protocol Recruiting NCT01728155 Phase 3 chemotherapy
14 Response and Biology-Based Risk Factor-Guided Therapy in Treating Younger Patients With Non-high Risk Neuroblastoma Recruiting NCT02176967 Phase 3 Carboplatin;Etoposide;Cyclophosphamide;Doxorubicin Hydrochloride
15 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 Dexamethasone acetate;dexamethasone and cyclophosphamide;dexamethasone and rituximab
16 Combination Chemotherapy, Autologous Stem Cell Transplant, and/or Radiation Therapy in Treating Young Patients With Extraocular Retinoblastoma Active, not recruiting NCT00554788 Phase 3 cisplatin;cyclophosphamide;etoposide;carboplatin;vincristine sulfate;thiotepa
17 131I-burtomab Radioimmunotherapy for Neuroblastoma Central Nervous System/Leptomeningeal Metastases Not yet recruiting NCT03275402 Phase 2, Phase 3
18 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 Busulfan;Carboplatin;Cisplatin;Crizotinib;Cyclophosphamide;Dexrazoxane Hydrochloride;Doxorubicin Hydrochloride;Etoposide Phosphate;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate
19 Autologous Stem Cell Rescue With CD133+ Selected Cells in High-Risk Neuroblastoma Terminated NCT00539500 Phase 2, Phase 3 Carboplatin;Etoposide;Melphalan
20 CH14.18 1021 Antibody and IL2 After Haplo SCT in Children With Relapsed Neuroblastoma Unknown status NCT02258815 Phase 2 ch14.18/CHO
21 Interleukin-2 in Treating Children With Stage IV Neuroblastoma Who Have Received Induction Therapy and Peripheral Stem Cell Transplantation Unknown status NCT00003743 Phase 2
22 Long Term Continuous Infusion ch14.18/CHO Plus s.c. Aldesleukin (IL-2) Unknown status NCT01701479 Phase 1, Phase 2 ch14.18/CHO;Aldesleukin;Isotretinoin
23 Surgery in Treating Patients With Neuroblastoma Unknown status NCT00003122 Phase 2
24 Observation of Young Patients With Localized Neuroblastoma Who Have Undergone Surgery Only Unknown status NCT00416559 Phase 2
25 Topotecan, Vincristine, and Doxorubicin in Treating Young Patients With Refractory Stage 4 Neuroblastoma Unknown status NCT00392340 Phase 2 doxorubicin hydrochloride;topotecan hydrochloride;vincristine sulfate
26 Haplo-identical Hematopoietic Stem Cell Transplantation Following Reduced-intensity Conditioning in Children With Neuroblastoma Unknown status NCT01156350 Phase 2 Busulfan - Fludarabine - TBI
27 131I-MIBG With Myeloablative Chemotherapy and Autologous Stem Cell Transplantation for the Treatment of High-risk Neuroblastoma Unknown status NCT00798148 Phase 1, Phase 2 131I-MIBG , Etoposide, Melphalan, Carboplatin, Autologous Peripheral Stem Cell Transplantation
28 Chemotherapy and Surgery Followed by Peripheral Stem Cell Transplantation in Treating Patients With Metastatic Neuroblastoma Unknown status NCT00024193 Phase 2 busulfan;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
29 CHP677: I-Metaiodobenzylguanidine (I-MIBG) Therapy for Refractory Neuroblastoma: a Phase II Study Unknown status NCT00013806 Phase 2 131I-MIBG
30 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
31 Pharmacokinetic Study of Carboplatin in Pediatric Hematopoietic Stem Cell Transplantation Unknown status NCT02339753 Phase 2 Carboplatin
32 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
33 Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Unknown status NCT01824615 Phase 2 Sunitinib
34 Study of Vinorelbine and Cyclofosfamide Among Patients With Refractory Tumours or in Relapse Unknown status NCT00180947 Phase 2 Vinorelbine, cyclofosfamide
35 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
36 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
37 hu14.18-Interleukin-2 Fusion Protein in Treating Young Patients With Recurrent or Refractory Neuroblastoma Completed NCT00082758 Phase 2
38 Biological Therapy, Sargramostim, and Isotretinoin in Treating Patients With Relapsed or Refractory Neuroblastoma Completed NCT01334515 Phase 2 isotretinoin
39 Studies of Temozolomide in Combination With Topotecan in Refractory and Relapsed Paediatric Solid Tumours Completed NCT00918320 Phase 2 Temozolomide/Hycamtin (Topotecan)
40 A Phase II Trial of All-Trans-Retinoic Acid in Combination With Interferon-Alpha 2a in Children With Recurrent Neuroblastoma or Wilms' Tumor Completed NCT00001509 Phase 2 IFN-alpha with retinoic acid
41 ch14.18 Pharmacokinetic Study in High-risk Neuroblastoma Completed NCT01592045 Phase 1, Phase 2 Isotretinoin
42 Combination Chemotherapy Followed by Surgery and Peripheral Stem Cell or Bone Marrow Transplantation in Treating Infants With Newly Diagnosed Neuroblastoma Completed NCT00025649 Phase 2 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
43 N2007-01: Ultratrace™ Iobenguane I 131 in Patients With Relapsed/Refractory High-Risk Neuroblastoma Completed NCT00659984 Phase 2 UltratraceTM Iobenguane I 131 Imaging;UltratraceTM Iobenguane I 131 Therapy
44 Monoclonal Antibody Therapy in Treating Children With Metastatic Neuroblastoma in Second Remission Completed NCT00002458 Phase 2
45 Biological Therapy in Treating Patients With Neuroblastoma That Has Not Responded to Previous Treatment Completed NCT00089258 Phase 2 isotretinoin
46 Arsenic Trioxide in Treating Patients With Advanced Neuroblastoma or Other Childhood Solid Tumors Completed NCT00024258 Phase 2 arsenic trioxide
47 Protracted Etoposide During Induction Therapy for High Risk Neuroblastoma Completed NCT00578864 Phase 2 Protracted Oral Etoposide;Adriamycin and Cyclophosphamide;IV Cisplatin and IV Bolus Etoposide
48 Thalidomide and Temozolomide in Relapsed or Progressive CNS Disease or Neuroblastoma Completed NCT00098865 Phase 2 temozolomide;thalidomide
49 Iodobenzylguanidine Meta-I131 and Topotecan in Young Patients With Refractory or Relapsed Metastatic Neuroblastoma Completed NCT00960739 Phase 2 Topotecan hydrochloride
50 Irinotecan and Temozolomide in Treating Young Patients With Recurrent Neuroblastoma Completed NCT00311584 Phase 2 irinotecan hydrochloride;temozolomide

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

MalaCards organs/tissues related to Neuroblastoma 2:

39
Bone, T Cells, Bone Marrow, Nk Cells, Brain, Testes, Breast

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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