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NBLST3
MCID: NRB014
MIFTS: 32

Neuroblastoma 3 (NBLST3)

Categories: Cancer diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Neuroblastoma 3

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MalaCards integrated aliases for Neuroblastoma 3:

Name: Neuroblastoma 3 57 74 29 6
Neuroblastoma, Susceptibility to, 3 57 13
Nblst3 57 74
Neuroblastoma, Susceptibility to, Type 3 40

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 613014
MeSH 44 D009447
MedGen 42 C2751681
Sources

Summaries for Neuroblastoma 3

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UniProtKB/Swiss-Prot : 74 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 1 and olfactory neuroblastoma. An important gene associated with Neuroblastoma 3 is ALK (ALK Receptor Tyrosine Kinase). The drugs Dopamine and Dopamine Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow.

More information from OMIM: 613014
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Related Diseases for Neuroblastoma 3

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Diseases in the Neuroblastoma 1 family:

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 1 9.9
2 olfactory neuroblastoma 9.7

Sources

Symptoms & Phenotypes for Neuroblastoma 3

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Clinical features from OMIM:

613014
Sources

Drugs & Therapeutics for Neuroblastoma 3

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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 Dopamine Agents Phase 3
3 Neurotransmitter 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

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Genetic Tests for Neuroblastoma 3

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Genetic tests related to Neuroblastoma 3:

# Genetic test Affiliating Genes
1 Neuroblastoma 3 29 ALK
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Anatomical Context for Neuroblastoma 3

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MalaCards organs/tissues related to Neuroblastoma 3:

41
Bone, Liver, Bone Marrow, Brain, Skin, Pituitary
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Publications for Neuroblastoma 3

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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. 8 71
22071890 2012
2
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 8 71
18923523 2008
3
Oncogenic mutations of ALK kinase in neuroblastoma. 8 71
18923524 2008
4
Activating mutations in ALK provide a therapeutic target in neuroblastoma. 8 71
18923525 2008
5
Identification of ALK as a major familial neuroblastoma predisposition gene. 8 71
18724359 2008
6
ALK-Related Neuroblastic Tumor Susceptibility 71
20301782 2010
7
Cancer: A ringleader identified. 8
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. 38
29376112 2018
9
A phase II trial of a multi-agent oral antiangiogenic (metronomic) regimen in children with recurrent or progressive cancer. 38
24123865 2014
10
The surgical approach for cervicothoracic masses in children. 38
22974603 2012
11
Teratoma with a malignant somatic component in pediatric patients: the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience. 38
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). 38
18989889 2009
13
The human serotonin 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors. 38
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. 38
12875961 2003
15
EVE/cyclosporin (etoposide, vincristine, epirubicin with high-dose cyclosporin)-chemotherapy selected for multidrug resistance modulation. 38
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. 38
10685646 2000
17
Cystatin C and transthyretin expression in normal and neoplastic tissues of the human brain and pituitary. 38
9144588 1997
18
High-dose cyclophosphamide, adriamycin, and vincristine (HD-CAV) in children with recurrent solid tumor. 38
7857784 1994
19
Neurologic features as initial presentations of childhood malignancies. 38
8198671 1994
20
Meta-iodobenzylguanidine in children. 38
8378796 1993
21
[Effects of mesna (2-mercaptoethane sodium sulfonate) in children with malignant disease receiving oxazaphosphorine chemotherapy]. 38
2106836 1990
22
Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience. 38
2352793 1990
23
Neuropeptide Y as a marker in pediatric neuroblastoma. 38
2315229 1990
24
[Echographic finding of a liver mass in the first years of life]. 38
2699518 1989
25
Cryopreservation of marrow, purging and autologous bone marrow transplantation in childhood. 38
2480316 1989
26
[Diagnosis and therapy of neuroectodermal tumors]. 38
2537501 1989
27
HLA system and some neoplastic diseases. 38
3071120 1988
28
[Bone metastasis of malignant solid tumors in childhood]. 38
3036015 1987
29
[Olfactory neuroblastoma. 3 case reports as a contribution to the clinical aspects, morphology and prognosis]. 38
3807604 1986
30
Clinical experiences in the treatment of neuroblastoma with 131I-metaiodobenzylguanidine. 38
2484676 1986
31
Intrathoracic neural tumours. 38
210531 1978
32
[Neuroectodermal tumors of the skin (a normative study)]. 38
597924 1977
33
Combination chemotherapy with adramycin (NSC-123127) and dimethyl triazeno imidazole carboxamide (DTIC) (NSC-45388) in children with metastatic solid tumors. 38
958160 1976
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Variations for Neuroblastoma 3

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ClinVar genetic disease variations for Neuroblastoma 3:

6 (show top 50) (show all 898)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ALK NM_004304.5(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 2:29445273-29445273 2:29222407-29222407
2 ALK NM_004304.5(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
3 ALK NM_004304.5(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 2:29436860-29436860 2:29213994-29213994
4 ALK NM_004304.5(ALK): c.3833A> C (p.Tyr1278Ser) single nucleotide variant Pathogenic rs863225285 2:29432655-29432655 2:29209789-29209789
5 ALK NM_004304.5(ALK): c.3735C> A (p.Phe1245Leu) single nucleotide variant Pathogenic rs863225284 2:29436858-29436858 2:29213992-29213992
6 ALK NM_004304.5(ALK): c.3734T> G (p.Phe1245Cys) single nucleotide variant Pathogenic rs863225283 2:29436859-29436859 2:29213993-29213993
7 ALK NM_004304.5(ALK): c.3520T> A (p.Phe1174Ile) single nucleotide variant Pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
8 ALK NM_004304.5(ALK): c.3522C> G (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 2:29443695-29443695 2:29220829-29220829
9 ALK NM_004304.5(ALK): c.3522C> A (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs863225281 2:29443695-29443695 2:29220829-29220829
10 ALK NM_004304.5(ALK): c.3520T> C (p.Phe1174Leu) single nucleotide variant Pathogenic/Likely pathogenic rs281864719 2:29443697-29443697 2:29220831-29220831
11 ALK NM_004304.5(ALK): c.3733T> A (p.Phe1245Ile) single nucleotide variant Pathogenic/Likely pathogenic rs281864720 2:29436860-29436860 2:29213994-29213994
12 ALK NM_004304.5(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 2:29432739-29432739 2:29209873-29209873
13 ALK NM_004304.5(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 2:29432664-29432664 2:29209798-29209798
14 ALK NM_004304.5(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 2:29445450-29445450 2:29222584-29222584
15 ALK NM_004304.5(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 2:29443642-29443642 2:29220776-29220776
16 ALK NM_004304.5(ALK): c.3718T> G (p.Leu1240Val) single nucleotide variant Likely pathogenic rs863225282 2:29436875-29436875 2:29214009-29214009
17 ALK NM_004304.5(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 2:29455225-29455225 2:29232359-29232359
18 ALK NM_004304.5(ALK): c.2149G> A (p.Glu717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs147858673 2:29474026-29474026 2:29251160-29251160
19 ALK NM_004304.5(ALK): c.4375G> T (p.Ala1459Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs372612147 2:29416578-29416578 2:29193712-29193712
20 ALK NM_004304.5(ALK): c.597C> T (p.Gly199=) single nucleotide variant Conflicting interpretations of pathogenicity rs200868013 2:30142929-30142929 2:29920063-29920063
21 ALK NM_004304.5(ALK): c.310C> A (p.Pro104Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs576431612 2:30143216-30143216 2:29920350-29920350
22 ALK NM_004304.5(ALK): c.3839C> T (p.Ala1280Val) single nucleotide variant Conflicting interpretations of pathogenicity rs74716434 2:29430136-29430136 2:29207270-29207270
23 ALK NM_004304.5(ALK): c.2210C> T (p.Ser737Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs368581969 2:29462691-29462691 2:29239825-29239825
24 ALK NM_004304.5(ALK): c.72G> A (p.Gly24=) single nucleotide variant Conflicting interpretations of pathogenicity rs756782371 2:30143454-30143454 2:29920588-29920588
25 ALK NM_004304.5(ALK): c.4344C> T (p.Ser1448=) single nucleotide variant Conflicting interpretations of pathogenicity rs886055929 2:29416609-29416609 2:29193743-29193743
26 ALK NM_004304.5(ALK): c.3633C> A (p.Thr1211=) single nucleotide variant Conflicting interpretations of pathogenicity rs144437923 2:29443584-29443584 2:29220718-29220718
27 ALK NM_004304.5(ALK): c.384G> A (p.Lys128=) single nucleotide variant Conflicting interpretations of pathogenicity rs753267950 2:30143142-30143142 2:29920276-29920276
28 ALK NM_004304.5(ALK): c.1626G> C (p.Pro542=) single nucleotide variant Conflicting interpretations of pathogenicity rs143916398 2:29541191-29541191 2:29318325-29318325
29 ALK NM_004304.5(ALK): c.3645G> A (p.Pro1215=) single nucleotide variant Conflicting interpretations of pathogenicity rs775768862 2:29443572-29443572 2:29220706-29220706
30 ALK NM_004304.5(ALK): c.1283-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs377214413 2:29551352-29551352 2:29328486-29328486
31 ALK NM_004304.5(ALK): c.3291C> T (p.Cys1097=) single nucleotide variant Conflicting interpretations of pathogenicity rs370170353 2:29446276-29446276 2:29223410-29223410
32 ALK NM_004304.5(ALK): c.2759G> A (p.Gly920Asp) single nucleotide variant Uncertain significance rs746643773 2:29451806-29451806 2:29228940-29228940
33 ALK NM_004304.5(ALK): c.2480T> C (p.Val827Ala) single nucleotide variant Uncertain significance rs753584062 2:29456438-29456438 2:29233572-29233572
34 ALK NM_004304.5(ALK): c.3958T> C (p.Trp1320Arg) single nucleotide variant Uncertain significance rs779796155 2:29420523-29420523 2:29197657-29197657
35 ALK NM_004304.5(ALK): c.3229G> A (p.Glu1077Lys) single nucleotide variant Uncertain significance rs1553394491 2:29446338-29446338 2:29223472-29223472
36 ALK NM_004304.5(ALK): c.3081G> A (p.Pro1027=) single nucleotide variant Uncertain significance rs747320964 2:29448418-29448418 2:29225552-29225552
37 ALK NM_004304.5(ALK): c.3866C> T (p.Ala1289Val) single nucleotide variant Uncertain significance rs1173246434 2:29430109-29430109 2:29207243-29207243
38 ALK NM_004304.5(ALK): c.4738G> A (p.Gly1580Arg) single nucleotide variant Uncertain significance rs370947313 2:29416215-29416215 2:29193349-29193349
39 ALK NM_004304.5(ALK): c.3691C> T (p.Arg1231Trp) single nucleotide variant Uncertain significance rs771475772 2:29436902-29436902 2:29214036-29214036
40 ALK NM_004304.5(ALK): c.4238T> G (p.Val1413Gly) single nucleotide variant Uncertain significance rs779318085 2:29416715-29416715 2:29193849-29193849
41 ALK NM_004304.5(ALK): c.3595A> C (p.Met1199Leu) single nucleotide variant Uncertain significance rs1400239417 2:29443622-29443622 2:29220756-29220756
42 ALK NM_004304.5(ALK): c.4040G> A (p.Arg1347Gln) single nucleotide variant Uncertain significance rs573049471 2:29420441-29420441 2:29197575-29197575
43 ALK NM_004304.5(ALK): c.3055G> A (p.Val1019Ile) single nucleotide variant Uncertain significance rs76742576 2:29449800-29449800 2:29226934-29226934
44 ALK NM_004304.5(ALK): c.2263C> A (p.His755Asn) single nucleotide variant Uncertain significance rs925915337 2:29462638-29462638 2:29239772-29239772
45 ALK NM_004304.5(ALK): c.2614G> A (p.Gly872Ser) single nucleotide variant Uncertain significance rs1343280200 2:29455188-29455188 2:29232322-29232322
46 ALK NM_004304.5(ALK): c.2074G> A (p.Gly692Arg) single nucleotide variant Uncertain significance rs373846404 2:29474101-29474101 2:29251235-29251235
47 ALK NM_004304.5(ALK): c.2443G> T (p.Ala815Ser) single nucleotide variant Uncertain significance rs200486099 2:29456475-29456475 2:29233609-29233609
48 ALK NM_004304.5(ALK): c.1705G> A (p.Val569Met) single nucleotide variant Uncertain significance rs754971913 2:29519866-29519866 2:29297000-29297000
49 ALK NM_004304.5(ALK): c.1699G> A (p.Val567Met) single nucleotide variant Uncertain significance rs1553406025 2:29519872-29519872 2:29297006-29297006
50 ALK NM_004304.5(ALK): c.1820T> A (p.Phe607Tyr) single nucleotide variant Uncertain significance rs1304239235 2:29498360-29498360 2:29275494-29275494

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

74 (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

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Expression for Neuroblastoma 3

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Search GEO for disease gene expression data for Neuroblastoma 3.
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Pathways for Neuroblastoma 3

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GO Terms for Neuroblastoma 3

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Sources for Neuroblastoma 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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