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 Dihydroxyphenylalanine and 3-Iodobenzylguanidine 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dihydroxyphenylalanine Phase 3
2 3-Iodobenzylguanidine Phase 2
3 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. 6 56
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
Neuropeptide Y as a marker in pediatric neuroblastoma. 61
2315229 1990
23
Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience. 61
2352793 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 1199) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALK NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)SNV Pathogenic 65670 rs281864719 2:29443697-29443697 2:29220831-29220831
2 ALK NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)SNV Pathogenic 65671 rs281864720 2:29436860-29436860 2:29213994-29213994
3 ALK NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)SNV Pathogenic 217858 rs863225285 2:29432655-29432655 2:29209789-29209789
4 ALK NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)SNV Pathogenic 217857 rs863225284 2:29436858-29436858 2:29213992-29213992
5 ALK NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)SNV Pathogenic 217856 rs863225283 2:29436859-29436859 2:29213993-29213993
6 ALK NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)SNV Pathogenic 217850 rs281864719 2:29443697-29443697 2:29220831-29220831
7 ALK NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217852 rs863225281 2:29443695-29443695 2:29220829-29220829
8 ALK NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217851 rs863225281 2:29443695-29443695 2:29220829-29220829
9 ALK NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)SNV Pathogenic/Likely pathogenic 217849 rs281864719 2:29443697-29443697 2:29220831-29220831
10 ALK NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)SNV Pathogenic/Likely pathogenic 217855 rs281864720 2:29436860-29436860 2:29213994-29213994
11 ALK NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)SNV Pathogenic/Likely pathogenic 21867 rs113994092 2:29432739-29432739 2:29209873-29209873
12 ALK NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)SNV Pathogenic/Likely pathogenic,risk factor 18083 rs113994087 2:29432664-29432664 2:29209798-29209798
13 ALK NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)SNV Pathogenic/Likely pathogenic,risk factor 18084 rs113994088 2:29445450-29445450 2:29222584-29222584
14 ALK NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)SNV Pathogenic/Likely pathogenic,risk factor 18085 rs113994089 2:29443642-29443642 2:29220776-29220776
15 ALK NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)SNV Likely pathogenic 217854 rs863225282 2:29436875-29436875 2:29214009-29214009
16 ALK NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)SNV Conflicting interpretations of pathogenicity 133478 rs201768549 2:29416767-29416767 2:29193901-29193901
17 ALK NM_004304.5(ALK):c.2577G>C (p.Glu859Asp)SNV Conflicting interpretations of pathogenicity 133464 rs61754865 2:29455225-29455225 2:29232359-29232359
18 ALK NM_004304.5(ALK):c.4785C>T (p.Ala1595=)SNV Conflicting interpretations of pathogenicity 239844 rs76150405 2:29416168-29416168 2:29193302-29193302
19 ALK NM_004304.5(ALK):c.4608G>A (p.Glu1536=)SNV Conflicting interpretations of pathogenicity 239840 rs147241767 2:29416345-29416345 2:29193479-29193479
20 ALK NM_004304.5(ALK):c.4275G>A (p.Leu1425=)SNV Conflicting interpretations of pathogenicity 239835 rs749418931 2:29416678-29416678 2:29193812-29193812
21 ALK NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)SNV Conflicting interpretations of pathogenicity 18086 rs113994091 2:29445273-29445273 2:29222407-29222407
22 ALK NM_004304.5(ALK):c.3939-5C>TSNV Conflicting interpretations of pathogenicity 706470 2:29420547-29420547 2:29197681-29197681
23 ALK NM_004304.5(ALK):c.2149G>A (p.Glu717Lys)SNV Conflicting interpretations of pathogenicity 239802 rs147858673 2:29474026-29474026 2:29251160-29251160
24 ALK NM_004304.5(ALK):c.469C>T (p.Pro157Ser)SNV Conflicting interpretations of pathogenicity 239842 rs74774946 2:30143057-30143057 2:29920191-29920191
25 ALK NM_004304.5(ALK):c.310C>T (p.Pro104Ser)SNV Conflicting interpretations of pathogenicity 239819 rs576431612 2:30143216-30143216 2:29920350-29920350
26 ALK NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser)SNV Conflicting interpretations of pathogenicity 335689 rs372612147 2:29416578-29416578 2:29193712-29193712
27 ALK NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)SNV Conflicting interpretations of pathogenicity 335691 rs74716434 2:29430136-29430136 2:29207270-29207270
28 ALK NM_004304.5(ALK):c.1550A>G (p.His517Arg)SNV Conflicting interpretations of pathogenicity 335707 rs367674546 2:29541267-29541267 2:29318401-29318401
29 ALK NM_004304.5(ALK):c.4344C>T (p.Ser1448=)SNV Conflicting interpretations of pathogenicity 335690 rs886055929 2:29416609-29416609 2:29193743-29193743
30 ALK NM_004304.5(ALK):c.3173-11C>TSNV Conflicting interpretations of pathogenicity 335696 rs79339096 2:29446405-29446405 2:29223539-29223539
31 ALK NM_004304.5(ALK):c.386G>T (p.Gly129Val)SNV Conflicting interpretations of pathogenicity 335714 rs760041708 2:30143140-30143140 2:29920274-29920274
32 ALK NM_004304.5(ALK):c.3939-9C>TSNV Conflicting interpretations of pathogenicity 538310 rs749848775 2:29420551-29420551 2:29197685-29197685
33 ALK NM_004304.5(ALK):c.1044C>T (p.Ala348=)SNV Conflicting interpretations of pathogenicity 538283 rs200293454 2:29754891-29754891 2:29532025-29532025
34 ALK NM_004304.5(ALK):c.4809T>C (p.His1603=)SNV Conflicting interpretations of pathogenicity 701610 2:29416144-29416144 2:29193278-29193278
35 ALK NM_004304.5(ALK):c.3672G>A (p.Leu1224=)SNV Conflicting interpretations of pathogenicity 824056 2:29436921-29436921 2:29214055-29214055
36 ALK NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser)SNV Conflicting interpretations of pathogenicity 404336 rs373037272 2:29416158-29416158 2:29193292-29193292
37 ALK NM_004304.5(ALK):c.615C>G (p.Ser205=)SNV Conflicting interpretations of pathogenicity 412941 rs567498111 2:30142911-30142911 2:29920045-29920045
38 ALK NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)SNV Conflicting interpretations of pathogenicity 404369 rs145028315 2:29436851-29436851 2:29213985-29213985
39 ALK NM_004304.5(ALK):c.4425C>T (p.His1475=)SNV Conflicting interpretations of pathogenicity 412904 rs139039449 2:29416528-29416528 2:29193662-29193662
40 ALK NM_004304.5(ALK):c.872G>A (p.Arg291His)SNV Conflicting interpretations of pathogenicity 404374 rs572340007 2:29917796-29917796 2:29694930-29694930
41 ALK NM_004304.5(ALK):c.2073C>T (p.Ser691=)SNV Conflicting interpretations of pathogenicity 470778 rs370435082 2:29474102-29474102 2:29251236-29251236
42 ALK NM_004304.5(ALK):c.1283-5T>CSNV Conflicting interpretations of pathogenicity 470745 rs377214413 2:29551352-29551352 2:29328486-29328486
43 ALK NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)SNV Conflicting interpretations of pathogenicity 470739 rs779282861 2:29606697-29606697 2:29383831-29383831
44 ALK NM_004304.5(ALK):c.3291C>T (p.Cys1097=)SNV Conflicting interpretations of pathogenicity 470824 rs370170353 2:29446276-29446276 2:29223410-29223410
45 ALK NM_004304.5(ALK):c.2304T>C (p.Asp768=)SNV Conflicting interpretations of pathogenicity 470787 rs758649392 2:29462597-29462597 2:29239731-29239731
46 ALK NM_004304.5(ALK):c.3645G>A (p.Pro1215=)SNV Conflicting interpretations of pathogenicity 485074 rs775768862 2:29443572-29443572 2:29220706-29220706
47 ALK NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln)SNV Conflicting interpretations of pathogenicity 485075 rs199987354 2:29446229-29446229 2:29223363-29223363
48 ALK NM_004304.5(ALK):c.4079G>A (p.Arg1360Gln)SNV Uncertain significance 485084 rs1215186876 2:29419721-29419721 2:29196855-29196855
49 ALK NM_004304.5(ALK):c.3641G>A (p.Arg1214His)SNV Uncertain significance 485079 rs750194005 2:29443576-29443576 2:29220710-29220710
50 ALK NM_004304.5(ALK):c.286G>A (p.Ala96Thr)SNV Uncertain significance 470810 rs1057065255 2:30143240-30143240 2:29920374-29920374

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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