Details of Disease

General Information of Disease (ID: DISHCY33)

Disease Name DICER1-related tumor predisposition
Synonyms
DICER1-related pleuropulmonary blastoma; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome; pleuro-pulmonary blastoma familial tumour susceptibility syndrome; pleuropulmonary blastoma familial tumor susceptibility syndrome; pleuro-pulmonary blastoma familial tumor susceptibility syndrome; pleuropulmonary blastoma familial tumour susceptibility syndrome; PPB familial tumor susceptibility syndrome; DICER1 syndrome; PPB familial tumour susceptibility syndrome; PPBFTDS
Definition
Pathogenic germline variation in DICER1 confers an autosomal dominant predisposition to tumor formation at multiple primary sites, including pleuropulmonary blastoma, pulmonary cysts, thyroid gland neoplasia, ovarian tumors, and cystic nephroma. Other syndromic features such as macrocephaly have been described.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISHCY33: DICER1-related tumor predisposition
Disease Identifiers
MONDO ID
MONDO_0100216
UMLS CUI
C3839822
OMIM ID
601200
MedGen ID
825667
Orphanet ID
284343
SNOMED CT ID
702411003

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
DICER1 TTTEOPU Strong Genetic Variation [1]
DICER1 TTTEOPU Definitive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MED19 OTT9RT5N Strong Biomarker [3]
DICER1 OTTVSEY0 Definitive Autosomal dominant [2]
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References

1 Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.Eur J Med Genet. 2019 Jan;62(1):9-14. doi: 10.1016/j.ejmg.2018.04.011. Epub 2018 Apr 24.
2 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.
3 Macrocephaly associated with the DICER1 syndrome.Genet Med. 2017 Feb;19(2):244-248. doi: 10.1038/gim.2016.83. Epub 2016 Jul 21.