Neuroblastoma 3 (NBLST3)

MalaCards integrated aliases for Neuroblastoma 3:

Neuroblastoma, Susceptibility to, 3 56 13 Nblst3 56 73

Neuroblastoma, Susceptibility to, Type 3 39

Classifications:

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

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

Genetic tests related to Neuroblastoma 3:

#	Genetic test	Affiliating Genes
1	Neuroblastoma 3 29	ALK

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	Bourdeaut F...Comite Neuroblastome of the Societe Francaise de Cancerologie	22071890	2012
2	Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 56 6	Janoueix-Lerosey I...Delattre O	18923523	2008
3	Oncogenic mutations of ALK kinase in neuroblastoma. 56 6	Chen Y...Ogawa S	18923524	2008
4	Activating mutations in ALK provide a therapeutic target in neuroblastoma. 56 6	George RE...Look AT	18923525	2008
5	Identification of ALK as a major familial neuroblastoma predisposition gene. 56 6	Mosse YP...Maris JM	18724359	2008
6	ALK-Related Neuroblastic Tumor Susceptibility 6	Greengard EG...Park JR	20301782	2010
7	Cancer: A ringleader identified. 56	Eng C	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	de Alarcon PA...Cohn SL	29376112	2018
9	A phase II trial of a multi-agent oral antiangiogenic (metronomic) regimen in children with recurrent or progressive cancer. 61	Robison NJ...Kieran MW	24123865	2014
10	The surgical approach for cervicothoracic masses in children. 61	De Corti F...Jasonni V	22974603	2012
11	Teratoma with a malignant somatic component in pediatric patients: the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience. 61	Terenziani M...Lo Curto M	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	Geller JI...Pediatric Oncology Group study 9376	18989889	2009
13	The human serotonin 1A receptor expressed in neuronal cells: toward a native environment for neuronal receptors. 61	Paila YD...Chattopadhyay A	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	Mehes G...Ambros PF	12875961	2003
15	EVE/cyclosporin (etoposide, vincristine, epirubicin with high-dose cyclosporin)-chemotherapy selected for multidrug resistance modulation. 61	Davidson A...Pinkerton R	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	Ohyama M...Misugi K	10685646	2000
17	Cystatin C and transthyretin expression in normal and neoplastic tissues of the human brain and pituitary. 61	Lignelid H...Jacobsson B	9144588	1997
18	High-dose cyclophosphamide, adriamycin, and vincristine (HD-CAV) in children with recurrent solid tumor. 61	Zoubek A...Dobrowsky W	7857784	1994
19	Neurologic features as initial presentations of childhood malignancies. 61	Aysun S...Topaloglu H	8198671	1994
20	Meta-iodobenzylguanidine in children. 61	Gelfand MJ	8378796	1993
21	[Effects of mesna (2-mercaptoethane sodium sulfonate) in children with malignant disease receiving oxazaphosphorine chemotherapy]. 61	Iwasaku-Fujimoto M...Imashuku S	2106836	1990
22	Neuropeptide Y as a marker in pediatric neuroblastoma. 61	Kogner P...Theodorsson E	2315229	1990
23	Consolidating the role of *I-MIBG-scintigraphy in childhood neuroblastoma: five years of clinical experience. 61	Jacobs A...Piepsz A	2352793	1990
24	[Echographic finding of a liver mass in the first years of life]. 61	Toma P...Dell'Acqua AM	2699518	1989
25	Cryopreservation of marrow, purging and autologous bone marrow transplantation in childhood. 61	Reiners B...Zintl F	2480316	1989
26	[Diagnosis and therapy of neuroectodermal tumors]. 61	Adolph J...Kimmig B	2537501	1989
27	HLA system and some neoplastic diseases. 61	Abrahamova J...Majsky A	3071120	1988
28	[Bone metastasis of malignant solid tumors in childhood]. 61	Taguchi N...Shimizu K	3036015	1987
29	[Olfactory neuroblastoma. 3 case reports as a contribution to the clinical aspects, morphology and prognosis]. 61	Gudziol H...Beleites E	3807604	1986
30	Clinical experiences in the treatment of neuroblastoma with 131I-metaiodobenzylguanidine. 61	Treuner J...Kaiser W	2484676	1986
31	Intrathoracic neural tumours. 61	Davidson KG...McCormack RJ	210531	1978
32	[Neuroectodermal tumors of the skin (a normative study)]. 61	Bednar B...Fidlerova D	597924	1977
33	Combination chemotherapy with adramycin (NSC-123127) and dimethyl triazeno imidazole carboxamide (DTIC) (NSC-45388) in children with metastatic solid tumors. 61	Cangir A...Nitschke R	958160	1976

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALK	ALK Receptor Tyrosine Kinase	Protein Coding	1395.92	Molecular basis known 56 Pathogenic/Likely pathogenic 6 Causative variation 73 Genetic Tests 29 Susceptibility factor 56 GeneCards inferred via : Disorders Variants (show sections)	18724359 22071890 18923523 (more) 20301782 18923524 18923525

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>T	SNV	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>T	SNV	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>T	SNV	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>C	SNV	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