MCID: ALK018
MIFTS: 14

Alk-Related Neuroblastic Tumor Susceptibility

Categories: Neuronal diseases

Aliases & Classifications for Alk-Related Neuroblastic Tumor Susceptibility

MalaCards integrated aliases for Alk-Related Neuroblastic Tumor Susceptibility:

Name: Alk-Related Neuroblastic Tumor Susceptibility 24

Characteristics:

GeneReviews:

24
Penetrance The overall penetrance of a germline alk pathogenic variant is approximately 50% [brodeur et al 2017]. several obligate heterozygous asymptomatic adults have been identified [mossé et al 2008, bourdeaut et al 2012]. in at least one family, a child with neuroblastoma inherited the p.arg1275gln pathogenic variant from an unaffected father [mossé et al 2008]....

Classifications:



Summaries for Alk-Related Neuroblastic Tumor Susceptibility

MalaCards based summary : Alk-Related Neuroblastic Tumor Susceptibility is related to neuroblastoma 1 and neuroblastoma 3. An important gene associated with Alk-Related Neuroblastic Tumor Susceptibility is ALK (ALK Receptor Tyrosine Kinase). Affiliated tissues include lung, and related phenotypes are Decreased viability and Decreased viability

GeneReviews: NBK24599

Related Diseases for Alk-Related Neuroblastic Tumor Susceptibility

Diseases related to Alk-Related Neuroblastic Tumor Susceptibility via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuroblastoma 1 10.3
2 neuroblastoma 3 10.3
3 gangliocytoma 10.3
4 ganglioneuroblastoma 10.3
5 ganglioneuroma 10.3
6 peripheral t-cell lymphoma 9.7 NME1 ALK

Graphical network of the top 20 diseases related to Alk-Related Neuroblastic Tumor Susceptibility:



Diseases related to Alk-Related Neuroblastic Tumor Susceptibility

Symptoms & Phenotypes for Alk-Related Neuroblastic Tumor Susceptibility

GenomeRNAi Phenotypes related to Alk-Related Neuroblastic Tumor Susceptibility according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.1 ALK NME1
2 Decreased viability GR00221-A-2 9.1 NME1
3 Decreased viability GR00221-A-4 9.1 ALK
4 Decreased viability GR00402-S-2 9.1 ALK NME1

MGI Mouse Phenotypes related to Alk-Related Neuroblastic Tumor Susceptibility:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.8 ALK KIF1B NME1

Drugs & Therapeutics for Alk-Related Neuroblastic Tumor Susceptibility

Search Clinical Trials , NIH Clinical Center for Alk-Related Neuroblastic Tumor Susceptibility

Genetic Tests for Alk-Related Neuroblastic Tumor Susceptibility

Anatomical Context for Alk-Related Neuroblastic Tumor Susceptibility

MalaCards organs/tissues related to Alk-Related Neuroblastic Tumor Susceptibility:

41
Lung

Publications for Alk-Related Neuroblastic Tumor Susceptibility

Articles related to Alk-Related Neuroblastic Tumor Susceptibility:

(show all 23)
# Title Authors PMID Year
1
Genetic susceptibility to neuroblastoma: current knowledge and future directions. 4
29589100 2018
2
Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr. 4
28572261 2017
3
Proteomics and transcriptomics of peripheral nerve tissue and cells unravel new aspects of the human Schwann cell repair phenotype. 4
27545331 2016
4
Timing, rates and spectra of human germline mutation. 4
26656846 2016
5
Neuroblastoma: paradigm for precision medicine. 4
25435121 2015
6
Safety and activity of crizotinib for paediatric patients with refractory solid tumours or anaplastic large-cell lymphoma: a Children's Oncology Group phase 1 consortium study. 4
23598171 2013
7
Targeting ALK in neuroblastoma--preclinical and clinical advancements. 4
22585002 2012
8
ALK and MYCN: when two oncogenes are better than one. 4
22439928 2012
9
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. 4
22071890 2012
10
Emerging importance of ALK in neuroblastoma. 4
21945349 2011
11
Germline gain-of-function mutations of ALK disrupt central nervous system development. 4
21972109 2011
12
Anaplastic lymphoma kinase: signalling in development and disease. 4
19459784 2009
13
High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. 4
18990089 2008
14
Cancer: A ringleader identified. 4
18923503 2008
15
Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 4
18923523 2008
16
Oncogenic mutations of ALK kinase in neuroblastoma. 4
18923524 2008
17
Activating mutations in ALK provide a therapeutic target in neuroblastoma. 4
18923525 2008
18
Identification of ALK as a major familial neuroblastoma predisposition gene. 4
18724359 2008
19
Neuroblastoma: biology, prognosis, and treatment. 4
18242317 2008
20
Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. 4
17625570 2007
21
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. 4
17606542 2007
22
Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. 4
8122112 1994
23
ALK-Related Neuroblastic Tumor Susceptibility 38
20301782 2010

Variations for Alk-Related Neuroblastic Tumor Susceptibility

Expression for Alk-Related Neuroblastic Tumor Susceptibility

Search GEO for disease gene expression data for Alk-Related Neuroblastic Tumor Susceptibility.

Pathways for Alk-Related Neuroblastic Tumor Susceptibility

GO Terms for Alk-Related Neuroblastic Tumor Susceptibility

Biological processes related to Alk-Related Neuroblastic Tumor Susceptibility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.16 NME1 ALK
2 regulation of apoptotic process GO:0042981 8.96 NME1 ALK
3 hippocampus development GO:0021766 8.62 NME1 ALK

Molecular functions related to Alk-Related Neuroblastic Tumor Susceptibility according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.8 NME1 KIF1B ALK

Sources for Alk-Related Neuroblastic Tumor Susceptibility

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
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