Details of Disease

General Information of Disease (ID: DIS3074Y)

Disease Name Neuroblastoma, susceptibility to, 3
Synonyms susceptibility to neuroblastoma 3; NBLST3; neuroblastoma, susceptibility to, type 3; ALK neuroblastoma; neuroblastoma caused by mutation in ALK; neuroblastoma, susceptibility to, 3
Definition Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DIS98MYE: Inherited disease susceptibility
DIS3074Y: Neuroblastoma, susceptibility to, 3
Disease Identifiers
MONDO ID
MONDO_0013083
UMLS CUI
C2751681
OMIM ID
613014
MedGen ID
414083

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ALK TTPMQSO Definitive Autosomal dominant [1]
ALK TTPMQSO Definitive Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALK OTV3P4V8 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome.Eur J Hum Genet. 2012 Mar;20(3):291-7. doi: 10.1038/ejhg.2011.195. Epub 2011 Nov 9.