NBLST3
MCID: NRB014
MIFTS: 28

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 57 72 29 6
Neuroblastoma, Susceptibility to, 3 57 13
Nblst3 57 72
Neuroblastoma, Susceptibility to, Type 3 39

Classifications:



External Ids:

OMIM® 57 613014
MeSH 44 D009447
MedGen 41 C2751681

Summaries for Neuroblastoma 3

UniProtKB/Swiss-Prot : 72 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). Affiliated tissues include bone marrow, pituitary and brain.

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 (Updated 20-May-2021)

Drugs & Therapeutics for Neuroblastoma 3

Search Clinical Trials , 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 Marrow, Pituitary, Brain, Skin

Publications for Neuroblastoma 3

Articles related to Neuroblastoma 3:

(show all 32)
# Title Authors PMID Year
1
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 6 57
22071890 2012
2
Identification of ALK as a major familial neuroblastoma predisposition gene. 6 57
18724359 2008
3
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 57 6
18923523 2008
4
Oncogenic mutations of ALK kinase in neuroblastoma. 6 57
18923524 2008
5
Activating mutations in ALK provide a therapeutic target in neuroblastoma. 6 57
18923525 2008
6
Cancer: A ringleader identified. 57
18923503 2008
7
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
8
A phase II trial of a multi-agent oral antiangiogenic (metronomic) regimen in children with recurrent or progressive cancer. 61
24123865 2014
9
The surgical approach for cervicothoracic masses in children. 61
22974603 2012
10
Teratoma with a malignant somatic component in pediatric patients: the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience. 61
20049928 2010
11
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
12
The human serotonin 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors. 61
17120164 2006
13
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
14
EVE/cyclosporin (etoposide, vincristine, epirubicin with high-dose cyclosporin)-chemotherapy selected for multidrug resistance modulation. 61
12460787 2002
15
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
16
Cystatin C and transthyretin expression in normal and neoplastic tissues of the human brain and pituitary. 61
9144588 1997
17
High-dose cyclophosphamide, adriamycin, and vincristine (HD-CAV) in children with recurrent solid tumor. 61
7857784 1994
18
Neurologic features as initial presentations of childhood malignancies. 61
8198671 1994
19
Meta-iodobenzylguanidine in children. 61
8378796 1993
20
[Effects of mesna (2-mercaptoethane sodium sulfonate) in children with malignant disease receiving oxazaphosphorine chemotherapy]. 61
2106836 1990
21
Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience. 61
2352793 1990
22
Neuropeptide Y as a marker in pediatric neuroblastoma. 61
2315229 1990
23
[Echographic finding of a liver mass in the first years of life]. 61
2699518 1989
24
Cryopreservation of marrow, purging and autologous bone marrow transplantation in childhood. 61
2480316 1989
25
[Diagnosis and therapy of neuroectodermal tumors]. 61
2537501 1989
26
HLA system and some neoplastic diseases. 61
3071120 1988
27
[Bone metastasis of malignant solid tumors in childhood]. 61
3036015 1987
28
[Olfactory neuroblastoma. 3 case reports as a contribution to the clinical aspects, morphology and prognosis]. 61
3807604 1986
29
Clinical experiences in the treatment of neuroblastoma with 131I-metaiodobenzylguanidine. 61
2484676 1986
30
Intrathoracic neural tumours. 61
210531 1978
31
[Neuroectodermal tumors of the skin (a normative study)]. 61
597924 1977
32
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 1710)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALK NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) SNV Pathogenic, risk factor 18083 rs113994087 GRCh37: 2:29432664-29432664
GRCh38: 2:29209798-29209798
2 ALK NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) SNV Pathogenic, risk factor 18084 rs113994088 GRCh37: 2:29445450-29445450
GRCh38: 2:29222584-29222584
3 ALK NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) SNV Pathogenic, risk factor 18085 rs113994089 GRCh37: 2:29443642-29443642
GRCh38: 2:29220776-29220776
4 ALK NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) SNV Pathogenic 65670 rs281864719 GRCh37: 2:29443697-29443697
GRCh38: 2:29220831-29220831
5 ALK NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) SNV Pathogenic 65671 rs281864720 GRCh37: 2:29436860-29436860
GRCh38: 2:29213994-29213994
6 ALK NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) SNV Pathogenic 217851 rs863225281 GRCh37: 2:29443695-29443695
GRCh38: 2:29220829-29220829
7 ALK NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) SNV Pathogenic 217849 rs281864719 GRCh37: 2:29443697-29443697
GRCh38: 2:29220831-29220831
8 ALK NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) SNV Pathogenic 217856 rs863225283 GRCh37: 2:29436859-29436859
GRCh38: 2:29213993-29213993
9 ALK NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) SNV Pathogenic 217858 rs863225285 GRCh37: 2:29432655-29432655
GRCh38: 2:29209789-29209789
10 ALK NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) SNV Pathogenic 217852 rs863225281 GRCh37: 2:29443695-29443695
GRCh38: 2:29220829-29220829
11 ALK NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) SNV Pathogenic 217850 rs281864719 GRCh37: 2:29443697-29443697
GRCh38: 2:29220831-29220831
12 ALK NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) SNV Pathogenic 217855 rs281864720 GRCh37: 2:29436860-29436860
GRCh38: 2:29213994-29213994
13 ALK NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu) SNV Pathogenic 217857 rs863225284 GRCh37: 2:29436858-29436858
GRCh38: 2:29213992-29213992
14 ALK NM_004304.5(ALK):c.3718T>G (p.Leu1240Val) SNV Likely pathogenic 217854 rs863225282 GRCh37: 2:29436875-29436875
GRCh38: 2:29214009-29214009
15 ALK NM_004304.5(ALK):c.469C>T (p.Pro157Ser) SNV Conflicting interpretations of pathogenicity 239842 rs74774946 GRCh37: 2:30143057-30143057
GRCh38: 2:29920191-29920191
16 ALK NM_004304.5(ALK):c.615C>G (p.Ser205=) SNV Conflicting interpretations of pathogenicity 412941 rs567498111 GRCh37: 2:30142911-30142911
GRCh38: 2:29920045-29920045
17 ALK NM_004304.5(ALK):c.4809T>C (p.His1603=) SNV Conflicting interpretations of pathogenicity 701610 rs758502850 GRCh37: 2:29416144-29416144
GRCh38: 2:29193278-29193278
18 ALK NM_004304.5(ALK):c.310C>T (p.Pro104Ser) SNV Conflicting interpretations of pathogenicity 239819 rs576431612 GRCh37: 2:30143216-30143216
GRCh38: 2:29920350-29920350
19 ALK NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) SNV Conflicting interpretations of pathogenicity 470739 rs779282861 GRCh37: 2:29606697-29606697
GRCh38: 2:29383831-29383831
20 ALK NM_004304.5(ALK):c.4344C>T (p.Ser1448=) SNV Conflicting interpretations of pathogenicity 335690 rs886055929 GRCh37: 2:29416609-29416609
GRCh38: 2:29193743-29193743
21 ALK NM_004304.5(ALK):c.386G>T (p.Gly129Val) SNV Conflicting interpretations of pathogenicity 335714 rs760041708 GRCh37: 2:30143140-30143140
GRCh38: 2:29920274-29920274
22 ALK NM_004304.5(ALK):c.4608G>A (p.Glu1536=) SNV Conflicting interpretations of pathogenicity 239840 rs147241767 GRCh37: 2:29416345-29416345
GRCh38: 2:29193479-29193479
23 ALK NM_004304.5(ALK):c.4425C>T (p.His1475=) SNV Conflicting interpretations of pathogenicity 412904 rs139039449 GRCh37: 2:29416528-29416528
GRCh38: 2:29193662-29193662
24 ALK NM_004304.5(ALK):c.2304T>C (p.Asp768=) SNV Conflicting interpretations of pathogenicity 470787 rs758649392 GRCh37: 2:29462597-29462597
GRCh38: 2:29239731-29239731
25 ALK NM_004304.5(ALK):c.2073C>T (p.Ser691=) SNV Conflicting interpretations of pathogenicity 470778 rs370435082 GRCh37: 2:29474102-29474102
GRCh38: 2:29251236-29251236
26 ALK NM_004304.5(ALK):c.1044C>T (p.Ala348=) SNV Conflicting interpretations of pathogenicity 538283 rs200293454 GRCh37: 2:29754891-29754891
GRCh38: 2:29532025-29532025
27 ALK NM_004304.5(ALK):c.3939-9C>T SNV Conflicting interpretations of pathogenicity 538310 rs749848775 GRCh37: 2:29420551-29420551
GRCh38: 2:29197685-29197685
28 ALK NM_004304.5(ALK):c.872G>A (p.Arg291His) SNV Conflicting interpretations of pathogenicity 404374 rs572340007 GRCh37: 2:29917796-29917796
GRCh38: 2:29694930-29694930
29 ALK NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) SNV Conflicting interpretations of pathogenicity 18086 rs113994091 GRCh37: 2:29445273-29445273
GRCh38: 2:29222407-29222407
30 ALK NM_004304.5(ALK):c.4275G>A (p.Leu1425=) SNV Conflicting interpretations of pathogenicity 239835 rs749418931 GRCh37: 2:29416678-29416678
GRCh38: 2:29193812-29193812
31 ALK NM_004304.5(ALK):c.4796C>A (p.Pro1599His) SNV Conflicting interpretations of pathogenicity 133477 rs1881423 GRCh37: 2:29416157-29416157
GRCh38: 2:29193291-29193291
32 ALK NM_004304.5(ALK):c.4375G>T (p.Ala1459Ser) SNV Conflicting interpretations of pathogenicity 335689 rs372612147 GRCh37: 2:29416578-29416578
GRCh38: 2:29193712-29193712
33 ALK NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) SNV Conflicting interpretations of pathogenicity 404336 rs373037272 GRCh37: 2:29416158-29416158
GRCh38: 2:29193292-29193292
34 ALK NM_004304.5(ALK):c.1550A>G (p.His517Arg) SNV Conflicting interpretations of pathogenicity 335707 rs367674546 GRCh37: 2:29541267-29541267
GRCh38: 2:29318401-29318401
35 ALK NM_004304.5(ALK):c.310C>A (p.Pro104Thr) SNV Uncertain significance 335716 rs576431612 GRCh37: 2:30143216-30143216
GRCh38: 2:29920350-29920350
36 ALK NM_004304.5(ALK):c.3595A>C (p.Met1199Leu) SNV Uncertain significance 470837 rs1400239417 GRCh37: 2:29443622-29443622
GRCh38: 2:29220756-29220756
37 ALK NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) SNV Uncertain significance 470840 rs771475772 GRCh37: 2:29436902-29436902
GRCh38: 2:29214036-29214036
38 ALK NM_004304.5(ALK):c.712_714del (p.Pro238del) Deletion Uncertain significance 470897 rs1311300230 GRCh37: 2:29940517-29940519
GRCh38: 2:29717651-29717653
39 ALK NM_004304.5(ALK):c.2285T>A (p.Ile762Asn) SNV Uncertain significance 470786 rs1169776576 GRCh37: 2:29462616-29462616
GRCh38: 2:29239750-29239750
40 ALK NM_004304.5(ALK):c.1713C>G (p.Asn571Lys) SNV Uncertain significance 470769 rs902275025 GRCh37: 2:29519858-29519858
GRCh38: 2:29296992-29296992
41 ALK NM_004304.5(ALK):c.1962C>A (p.Asn654Lys) SNV Uncertain significance 470777 rs755124993 GRCh37: 2:29498044-29498044
GRCh38: 2:29275178-29275178
42 ALK NM_004304.5(ALK):c.1133T>C (p.Met378Thr) SNV Uncertain significance 470736 rs1178669386 GRCh37: 2:29754802-29754802
GRCh38: 2:29531936-29531936
43 ALK NM_004304.5(ALK):c.1507G>A (p.Val503Ile) SNV Uncertain significance 470754 rs1229156257 GRCh37: 2:29543656-29543656
GRCh38: 2:29320790-29320790
44 ALK NM_004304.5(ALK):c.3481_3482delinsAC (p.Glu1161Thr) Indel Uncertain significance 470830 rs1553394207 GRCh37: 2:29445243-29445244
GRCh38: 2:29222377-29222378
45 ALK NM_004304.5(ALK):c.1108G>A (p.Glu370Lys) SNV Uncertain significance 470735 rs373120394 GRCh37: 2:29754827-29754827
GRCh38: 2:29531961-29531961
46 ALK NM_004304.5(ALK):c.2480T>C (p.Val827Ala) SNV Uncertain significance 470796 rs753584062 GRCh37: 2:29456438-29456438
GRCh38: 2:29233572-29233572
47 ALK NM_004304.5(ALK):c.3978A>G (p.Gly1326=) SNV Uncertain significance 470860 rs200256900 GRCh37: 2:29420503-29420503
GRCh38: 2:29197637-29197637
48 ALK NM_004304.5(ALK):c.24G>T (p.Trp8Cys) SNV Uncertain significance 538174 rs749905243 GRCh37: 2:30143502-30143502
GRCh38: 2:29920636-29920636
49 ALK NM_004304.5(ALK):c.522C>A (p.Phe174Leu) SNV Uncertain significance 133458 rs587778020 GRCh37: 2:30143004-30143004
GRCh38: 2:29920138-29920138
50 ALK NM_004304.5(ALK):c.409C>G (p.Arg137Gly) SNV Uncertain significance 538185 rs757382067 GRCh37: 2:30143117-30143117
GRCh38: 2:29920251-29920251

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

72 (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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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