NBLST3
MCID: NRB014
MIFTS: 30

Neuroblastoma 3 (NBLST3)

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

Aliases & Classifications for Neuroblastoma 3

MalaCards integrated aliases for Neuroblastoma 3:

Name: Neuroblastoma 3 56 73 29 6
Neuroblastoma, Susceptibility to, 3 56 13
Nblst3 56 73
Neuroblastoma, Susceptibility to, Type 3 39

Classifications:



External Ids:

OMIM 56 613014
MeSH 43 D009447
MedGen 41 C2751681

Summaries for Neuroblastoma 3

UniProtKB/Swiss-Prot : 73 Neuroblastoma 3: 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 3, also known as neuroblastoma, susceptibility to, 3, is related to neuroblastoma and olfactory neuroblastoma. An important gene associated with Neuroblastoma 3 is ALK (ALK Receptor Tyrosine Kinase). The drugs Dopamine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver.

More information from OMIM: 613014

Related Diseases for Neuroblastoma 3

Diseases in the Neuroblastoma family:

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

Diseases related to Neuroblastoma 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 9.9
2 olfactory neuroblastoma 9.7

Symptoms & Phenotypes for Neuroblastoma 3

Clinical features from OMIM:

613014

Drugs & Therapeutics for Neuroblastoma 3

Drugs for Neuroblastoma 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
2 Neurotransmitter Agents Phase 3
3 Dopamine Agents Phase 3
4 Dihydroxyphenylalanine Phase 3
5 3-Iodobenzylguanidine Phase 2
6 Radiopharmaceuticals Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 18F-DOPA PET Imaging: an Evaluation of Biodistribution and Safety Recruiting NCT03042416 Phase 3 18F-DOPA
2 A Phase II Single-arm Study of Therapeutic Iobenguane (131-I) for Relapsed, High-risk Neuroblastoma Subjects Recruiting NCT03561259 Phase 2 131I-MIBG

Search NIH Clinical Center for Neuroblastoma 3

Genetic Tests for Neuroblastoma 3

Genetic tests related to Neuroblastoma 3:

# Genetic test Affiliating Genes
1 Neuroblastoma 3 29 ALK

Anatomical Context for Neuroblastoma 3

MalaCards organs/tissues related to Neuroblastoma 3:

40
Bone, Bone Marrow, Liver, Brain, Skin, Pituitary

Publications for Neuroblastoma 3

Articles related to Neuroblastoma 3:

(show all 33)
# Title Authors PMID Year
1
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 56 6
22071890 2012
2
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 56 6
18923523 2008
3
Oncogenic mutations of ALK kinase in neuroblastoma. 56 6
18923524 2008
4
Activating mutations in ALK provide a therapeutic target in neuroblastoma. 56 6
18923525 2008
5
Identification of ALK as a major familial neuroblastoma predisposition gene. 56 6
18724359 2008
6
ALK-Related Neuroblastic Tumor Susceptibility 6
20301782 2010
7
Cancer: A ringleader identified. 56
18923503 2008
8
Intravenous immunoglobulin with prednisone and risk-adapted chemotherapy for children with opsoclonus myoclonus ataxia syndrome associated with neuroblastoma (ANBL00P3): a randomised, open-label, phase 3 trial. 61
29376112 2018
9
A phase II trial of a multi-agent oral antiangiogenic (metronomic) regimen in children with recurrent or progressive cancer. 61
24123865 2014
10
The surgical approach for cervicothoracic masses in children. 61
22974603 2012
11
Teratoma with a malignant somatic component in pediatric patients: the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience. 61
20049928 2010
12
Phase I study of paclitaxel with standard dose ifosfamide in children with refractory solid tumors: a Pediatric Oncology Group study (POG 9376). 61
18989889 2009
13
The human serotonin 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors. 61
17120164 2006
14
Detection of disseminated tumor cells in neuroblastoma: 3 log improvement in sensitivity by automatic immunofluorescence plus FISH (AIPF) analysis compared with classical bone marrow cytology. 61
12875961 2003
15
EVE/cyclosporin (etoposide, vincristine, epirubicin with high-dose cyclosporin)-chemotherapy selected for multidrug resistance modulation. 61
12460787 2002
16
Congenital primitive epithelial tumor of the liver showing focal rhabdoid features, placental involvement, and clinical features mimicking multifocal hemangioma or stage 4S neuroblastoma. 61
10685646 2000
17
Cystatin C and transthyretin expression in normal and neoplastic tissues of the human brain and pituitary. 61
9144588 1997
18
High-dose cyclophosphamide, adriamycin, and vincristine (HD-CAV) in children with recurrent solid tumor. 61
7857784 1994
19
Neurologic features as initial presentations of childhood malignancies. 61
8198671 1994
20
Meta-iodobenzylguanidine in children. 61
8378796 1993
21
[Effects of mesna (2-mercaptoethane sodium sulfonate) in children with malignant disease receiving oxazaphosphorine chemotherapy]. 61
2106836 1990
22
Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience. 61
2352793 1990
23
Neuropeptide Y as a marker in pediatric neuroblastoma. 61
2315229 1990
24
[Echographic finding of a liver mass in the first years of life]. 61
2699518 1989
25
Cryopreservation of marrow, purging and autologous bone marrow transplantation in childhood. 61
2480316 1989
26
[Diagnosis and therapy of neuroectodermal tumors]. 61
2537501 1989
27
HLA system and some neoplastic diseases. 61
3071120 1988
28
[Bone metastasis of malignant solid tumors in childhood]. 61
3036015 1987
29
[Olfactory neuroblastoma. 3 case reports as a contribution to the clinical aspects, morphology and prognosis]. 61
3807604 1986
30
Clinical experiences in the treatment of neuroblastoma with 131I-metaiodobenzylguanidine. 61
2484676 1986
31
Intrathoracic neural tumours. 61
210531 1978
32
[Neuroectodermal tumors of the skin (a normative study)]. 61
597924 1977
33
Combination chemotherapy with adramycin (NSC-123127) and dimethyl triazeno imidazole carboxamide (DTIC) (NSC-45388) in children with metastatic solid tumors. 61
958160 1976

Variations for Neuroblastoma 3

ClinVar genetic disease variations for Neuroblastoma 3:

6 (show top 50) (show all 726) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALK NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)SNV Pathogenic 217858 rs863225285 2:29432655-29432655 2:29209789-29209789
2 ALK NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)SNV Pathogenic 217857 rs863225284 2:29436858-29436858 2:29213992-29213992
3 ALK NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)SNV Pathogenic 217856 rs863225283 2:29436859-29436859 2:29213993-29213993
4 ALK NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)SNV Pathogenic 217850 rs281864719 2:29443697-29443697 2:29220831-29220831
5 ALK NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)SNV Pathogenic,risk factor 18086 rs113994091 2:29445273-29445273 2:29222407-29222407
6 ALK NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)SNV Pathogenic 65670 rs281864719 2:29443697-29443697 2:29220831-29220831
7 ALK NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)SNV Pathogenic 65671 rs281864720 2:29436860-29436860 2:29213994-29213994
8 ALK NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)SNV Pathogenic/Likely pathogenic,risk factor 18083 rs113994087 2:29432664-29432664 2:29209798-29209798
9 ALK NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)SNV Pathogenic/Likely pathogenic,risk factor 18084 rs113994088 2:29445450-29445450 2:29222584-29222584
10 ALK NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)SNV Pathogenic/Likely pathogenic,risk factor 18085 rs113994089 2:29443642-29443642 2:29220776-29220776
11 ALK NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217852 rs863225281 2:29443695-29443695 2:29220829-29220829
12 ALK NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217851 rs863225281 2:29443695-29443695 2:29220829-29220829
13 ALK NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217849 rs281864719 2:29443697-29443697 2:29220831-29220831
14 ALK NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)SNV Pathogenic/Likely pathogenic 217855 rs281864720 2:29436860-29436860 2:29213994-29213994
15 ALK NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)SNV Pathogenic/Likely pathogenic 21867 rs113994092 2:29432739-29432739 2:29209873-29209873
16 ALK NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)SNV Likely pathogenic 217854 rs863225282 2:29436875-29436875 2:29214009-29214009
17 ALK NM_004304.5(ALK):c.4785C>T (p.Ala1595=)SNV Conflicting interpretations of pathogenicity 239844 rs76150405 2:29416168-29416168 2:29193302-29193302
18 ALK NM_004304.5(ALK):c.310C>T (p.Pro104Ser)SNV Conflicting interpretations of pathogenicity 239819 rs576431612 2:30143216-30143216 2:29920350-29920350
19 ALK NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)SNV Conflicting interpretations of pathogenicity 335689 rs372612147 2:29416578-29416578 2:29193712-29193712
20 ALK NM_004304.5(ALK):c.3633C>A (p.Thr1211=)SNV Conflicting interpretations of pathogenicity 335692 rs144437923 2:29443584-29443584 2:29220718-29220718
21 ALK NM_004304.5(ALK):c.310C>A (p.Pro104Thr)SNV Conflicting interpretations of pathogenicity 335716 rs576431612 2:30143216-30143216 2:29920350-29920350
22 ALK NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)SNV Conflicting interpretations of pathogenicity 335691 rs74716434 2:29430136-29430136 2:29207270-29207270
23 ALK NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)SNV Conflicting interpretations of pathogenicity 470739 rs779282861 2:29606697-29606697 2:29383831-29383831
24 ALK NM_004304.5(ALK):c.3645G>A (p.Pro1215=)SNV Conflicting interpretations of pathogenicity 485074 rs775768862 2:29443572-29443572 2:29220706-29220706
25 ALK NM_004304.5(ALK):c.3641G>A (p.Arg1214His)SNV Uncertain significance 485079 rs750194005 2:29443576-29443576 2:29220710-29220710
26 ALK NM_004304.5(ALK):c.4019A>G (p.Glu1340Gly)SNV Uncertain significance 485086 rs1469977891 2:29420462-29420462 2:29197596-29197596
27 ALK NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln)SNV Uncertain significance 485084 rs1215186876 2:29419721-29419721 2:29196855-29196855
28 ALK NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp)SNV Uncertain significance 485077 rs774951734 2:29446209-29446209 2:29223343-29223343
29 ALK NM_004304.5(ALK):c.3300C>T (p.Gly1100=)SNV Uncertain significance 485076 rs752819935 2:29446267-29446267 2:29223401-29223401
30 ALK NC_000002.11:g.(?_29416084)_(29754988_?)dupduplication Uncertain significance 538313 2:29416084-29754988 2:29193218-29532122
31 ALK NM_004304.5(ALK):c.4421G>A (p.Gly1474Glu)SNV Uncertain significance 538239 rs1293939080 2:29416532-29416532 2:29193666-29193666
32 ALK NM_004304.5(ALK):c.4418G>A (p.Gly1473Glu)SNV Uncertain significance 538273 rs1174344092 2:29416535-29416535 2:29193669-29193669
33 ALK NM_004304.5(ALK):c.3574C>T (p.Arg1192Trp)SNV Uncertain significance 538184 rs534852056 2:29443643-29443643 2:29220777-29220777
34 ALK NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr)SNV Uncertain significance 538237 rs754163075 2:29446331-29446331 2:29223465-29223465
35 ALK NM_004304.5(ALK):c.3181C>T (p.Arg1061Trp)SNV Uncertain significance 538192 rs371521416 2:29446386-29446386 2:29223520-29223520
36 ALK NM_004304.5(ALK):c.4613G>T (p.Ser1538Ile)SNV Uncertain significance 538261 rs1553386937 2:29416340-29416340 2:29193474-29193474
37 ALK NM_004304.5(ALK):c.4842C>T (p.Ser1614=)SNV Uncertain significance 538244 rs1280729630 2:29416111-29416111 2:29193245-29193245
38 ALK NM_004304.5(ALK):c.4813G>A (p.Glu1605Lys)SNV Uncertain significance 538267 rs754214919 2:29416140-29416140 2:29193274-29193274
39 ALK NM_004304.5(ALK):c.4768G>A (p.Gly1590Ser)SNV Uncertain significance 538188 rs190639819 2:29416185-29416185 2:29193319-29193319
40 ALK NM_004304.5(ALK):c.4606G>A (p.Glu1536Lys)SNV Uncertain significance 538216 rs752701859 2:29416347-29416347 2:29193481-29193481
41 ALK NM_004304.5(ALK):c.1977C>G (p.Asn659Lys)SNV Uncertain significance 538263 rs780562062 2:29498029-29498029 2:29275163-29275163
42 ALK NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser)SNV Uncertain significance 538260 rs751677905 2:29416205-29416205 2:29193339-29193339
43 ALK NM_004304.5(ALK):c.1834G>A (p.Val612Ile)SNV Uncertain significance 538243 rs1431784023 2:29498346-29498346 2:29275480-29275480
44 ALK NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys)SNV Uncertain significance 538249 rs374733353 2:29416416-29416416 2:29193550-29193550
45 ALK NM_004304.5(ALK):c.1729C>A (p.Gln577Lys)SNV Uncertain significance 538256 rs1430381834 2:29519842-29519842 2:29296976-29296976
46 ALK NM_004304.5(ALK):c.1507G>A (p.Val503Ile)SNV Uncertain significance 470754 rs1229156257 2:29543656-29543656 2:29320790-29320790
47 ALK NM_004304.5(ALK):c.1414C>T (p.Arg472Trp)SNV Uncertain significance 470751 rs749263944 2:29551216-29551216 2:29328350-29328350
48 ALK NM_004304.5(ALK):c.1393G>A (p.Glu465Lys)SNV Uncertain significance 470746 rs1553411110 2:29551237-29551237 2:29328371-29328371
49 ALK NM_004304.5(ALK):c.871C>T (p.Arg291Cys)SNV Uncertain significance 470903 rs748854412 2:29917797-29917797 2:29694931-29694931
50 ALK NM_004304.5(ALK):c.1108G>A (p.Glu370Lys)SNV Uncertain significance 470735 rs373120394 2:29754827-29754827 2:29531961-29531961

UniProtKB/Swiss-Prot genetic disease variations for Neuroblastoma 3:

73 (show all 16)
# Symbol AA change Variation ID SNP ID
1 ALK p.Asp1091Asn VAR_063850 rs864309584
2 ALK p.Gly1128Ala VAR_063851 rs113994088
3 ALK p.Thr1151Met VAR_063852 rs113994091
4 ALK p.Met1166Arg VAR_063853 rs105752001
5 ALK p.Ile1171Asn VAR_063854 rs105751969
6 ALK p.Phe1174Cys VAR_063855 rs105751969
7 ALK p.Phe1174Ile VAR_063856 rs281864719
8 ALK p.Phe1174Leu VAR_063857 rs863225281
9 ALK p.Phe1174Val VAR_063858 rs281864719
10 ALK p.Arg1192Pro VAR_063859 rs113994089
11 ALK p.Ala1234Thr VAR_063860
12 ALK p.Phe1245Cys VAR_063861 rs863225283
13 ALK p.Phe1245Val VAR_063862 rs281864720
14 ALK p.Ile1250Thr VAR_063863 rs113994092
15 ALK p.Arg1275Gln VAR_063865 rs113994087
16 ALK p.Tyr1278Ser VAR_063866 rs863225285

Expression for Neuroblastoma 3

Search GEO for disease gene expression data for Neuroblastoma 3.

Pathways for Neuroblastoma 3

GO Terms for Neuroblastoma 3

Sources for Neuroblastoma 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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