NBLST3
MCID: NRB014
MIFTS: 19

Neuroblastoma 3 (NBLST3)

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

Aliases & Classifications for Neuroblastoma 3

MalaCards integrated aliases for Neuroblastoma 3:

Name: Neuroblastoma 3 58 76 30 6
Neuroblastoma, Susceptibility to, 3 58 13
Nblst3 58 76
Neuroblastoma, Susceptibility to, Type 3 41

Classifications:



External Ids:

OMIM 58 613014
MeSH 45 D009447
MedGen 43 C2751681

Summaries for Neuroblastoma 3

UniProtKB/Swiss-Prot : 76 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, is also known as neuroblastoma, susceptibility to, 3. An important gene associated with Neuroblastoma 3 is ALK (ALK Receptor Tyrosine Kinase). Affiliated tissues include bone and bone marrow.

Description from OMIM: 613014

Related Diseases for Neuroblastoma 3

Symptoms & Phenotypes for Neuroblastoma 3

Clinical features from OMIM:

613014

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 30 ALK

Anatomical Context for Neuroblastoma 3

MalaCards organs/tissues related to Neuroblastoma 3:

42
Bone, Bone Marrow

Publications for Neuroblastoma 3

Articles related to Neuroblastoma 3:

# Title Authors Year
1
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. ( 22071890 )
2012
2
Oncogenic mutations of ALK kinase in neuroblastoma. ( 18923524 )
2008
3
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. ( 18923523 )
2008
4
Activating mutations in ALK provide a therapeutic target in neuroblastoma. ( 18923525 )
2008
5
Identification of ALK as a major familial neuroblastoma predisposition gene. ( 18724359 )
2008
6
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. ( 12875961 )
2003

Variations for Neuroblastoma 3

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

76 (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

ClinVar genetic disease variations for Neuroblastoma 3:

6 (show top 50) (show all 1458)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh37 Chromosome 2, 29432664: 29432664
2 ALK NM_004304.4(ALK): c.3824G> A (p.Arg1275Gln) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994087 GRCh38 Chromosome 2, 29209798: 29209798
3 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh37 Chromosome 2, 29445450: 29445450
4 ALK NM_004304.4(ALK): c.3383G> C (p.Gly1128Ala) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994088 GRCh38 Chromosome 2, 29222584: 29222584
5 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh37 Chromosome 2, 29443642: 29443642
6 ALK NM_004304.4(ALK): c.3575G> C (p.Arg1192Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs113994089 GRCh38 Chromosome 2, 29220776: 29220776
7 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh37 Chromosome 2, 29445273: 29445273
8 ALK NM_004304.4(ALK): c.3452C> T (p.Thr1151Met) single nucleotide variant Pathogenic,risk factor rs113994091 GRCh38 Chromosome 2, 29222407: 29222407
9 ALK NM_004304.4(ALK): c.3260C> T (p.Thr1087Ile) single nucleotide variant Uncertain significance rs113994090 GRCh37 Chromosome 2, 29446307: 29446307
10 ALK NM_004304.4(ALK): c.3260C> T (p.Thr1087Ile) single nucleotide variant Uncertain significance rs113994090 GRCh38 Chromosome 2, 29223441: 29223441
11 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh37 Chromosome 2, 29432739: 29432739
12 ALK NM_004304.4(ALK): c.3749T> C (p.Ile1250Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994092 GRCh38 Chromosome 2, 29209873: 29209873
13 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh37 Chromosome 2, 29443697: 29443697
14 ALK NM_004304.4(ALK): c.3520T> G (p.Phe1174Val) single nucleotide variant Pathogenic rs281864719 GRCh38 Chromosome 2, 29220831: 29220831
15 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh37 Chromosome 2, 29436860: 29436860
16 ALK NM_004304.4(ALK): c.3733T> G (p.Phe1245Val) single nucleotide variant Pathogenic rs281864720 GRCh38 Chromosome 2, 29213994: 29213994
17 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh37 Chromosome 2, 29443582: 29443582
18 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 GRCh38 Chromosome 2, 29220716: 29220716
19 ALK NM_004304.4(ALK): c.3635G> A (p.Arg1212His) single nucleotide variant Uncertain significance rs143790259 NCBI36 Chromosome 2, 29297086: 29297086
20 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh37 Chromosome 2, 30143420: 30143420
21 ALK NM_004304.4(ALK): c.106C> T (p.Pro36Ser) single nucleotide variant Likely benign rs201490095 GRCh38 Chromosome 2, 29920554: 29920554
22 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh37 Chromosome 2, 30143004: 30143004
23 ALK NM_004304.4(ALK): c.522C> A (p.Phe174Leu) single nucleotide variant Uncertain significance rs587778020 GRCh38 Chromosome 2, 29920138: 29920138
24 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh37 Chromosome 2, 30143039: 30143039
25 ALK NM_004304.4(ALK): c.487G> T (p.Val163Leu) single nucleotide variant Benign/Likely benign rs55697431 GRCh38 Chromosome 2, 29920173: 29920173
26 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh37 Chromosome 2, 30142934: 30142934
27 ALK NM_004304.4(ALK): c.592G> A (p.Val198Met) single nucleotide variant Benign rs77677701 GRCh38 Chromosome 2, 29920068: 29920068
28 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh37 Chromosome 2, 29498063: 29498063
29 ALK NM_004304.4(ALK): c.1943C> T (p.Thr648Ile) single nucleotide variant Benign/Likely benign rs116202066 GRCh38 Chromosome 2, 29275197: 29275197
30 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh37 Chromosome 2, 29497967: 29497967
31 ALK NM_004304.4(ALK): c.2039C> T (p.Thr680Ile) single nucleotide variant Benign/Likely benign rs35228363 GRCh38 Chromosome 2, 29275101: 29275101
32 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh37 Chromosome 2, 29474048: 29474048
33 ALK NM_004304.4(ALK): c.2127C> A (p.Asn709Lys) single nucleotide variant Benign/Likely benign rs376175333 GRCh38 Chromosome 2, 29251182: 29251182
34 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh37 Chromosome 2, 29455225: 29455225
35 ALK NM_004304.4(ALK): c.2577G> C (p.Glu859Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs61754865 GRCh38 Chromosome 2, 29232359: 29232359
36 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh37 Chromosome 2, 29449820: 29449820
37 ALK NM_004304.4(ALK): c.3035C> T (p.Thr1012Met) single nucleotide variant Benign/Likely benign rs35073634 GRCh38 Chromosome 2, 29226954: 29226954
38 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh37 Chromosome 2, 29449824: 29449824
39 ALK NM_004304.4(ALK): c.3031G> A (p.Gly1011Arg) single nucleotide variant Uncertain significance rs587778021 GRCh38 Chromosome 2, 29226958: 29226958
40 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh37 Chromosome 2, 29448419: 29448419
41 ALK NM_004304.4(ALK): c.3080C> T (p.Pro1027Leu) single nucleotide variant Likely benign rs140733978 GRCh38 Chromosome 2, 29225553: 29225553
42 ALK NM_004304.4(ALK): c.3139G> A (p.Ala1047Thr) single nucleotide variant Likely benign rs370049091 GRCh37 Chromosome 2, 29448360: 29448360
43 ALK NM_004304.4(ALK): c.3139G> A (p.Ala1047Thr) single nucleotide variant Likely benign rs370049091 GRCh38 Chromosome 2, 29225494: 29225494
44 ALK NM_004304.4(ALK): c.776G> A (p.Arg259His) single nucleotide variant Benign/Likely benign rs138686378 GRCh37 Chromosome 2, 29940455: 29940455
45 ALK NM_004304.4(ALK): c.776G> A (p.Arg259His) single nucleotide variant Benign/Likely benign rs138686378 GRCh38 Chromosome 2, 29717589: 29717589
46 ALK NM_004304.4(ALK): c.3182G> A (p.Arg1061Gln) single nucleotide variant Uncertain significance rs72852032 GRCh37 Chromosome 2, 29446385: 29446385
47 ALK NM_004304.4(ALK): c.3182G> A (p.Arg1061Gln) single nucleotide variant Uncertain significance rs72852032 GRCh38 Chromosome 2, 29223519: 29223519
48 ALK NM_004304.4(ALK): c.4303_4305delGAG (p.Glu1435del) deletion Benign/Likely benign rs138827116 GRCh37 Chromosome 2, 29416648: 29416650
49 ALK NM_004304.4(ALK): c.4303_4305delGAG (p.Glu1435del) deletion Benign/Likely benign rs138827116 GRCh38 Chromosome 2, 29193782: 29193784
50 ALK NM_004304.4(ALK): c.4381A> G (p.Ile1461Val) single nucleotide variant Benign rs1670283 GRCh37 Chromosome 2, 29416572: 29416572

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
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75 UMLS via Orphanet
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