Details of Disease

General Information of Disease (ID: DISVJILV)

Disease Name Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
Synonyms
euthyroid goiter; euthyroid goitre; simple goiter; simple goitre; multinodular goiter, adolescent; goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; goiter, nontoxic, with Intrathyroidal calcification; MNG1; familial MNG; FMNG
Definition Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DISZQJH7: Multinodular goiter
DISVJILV: Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors
Disease Identifiers
MONDO ID
MONDO_0007681
MESH ID
C562732
UMLS CUI
C0302859
OMIM ID
138800
MedGen ID
86230
HPO ID
HP:0009798
Orphanet ID
276399

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KEAP1 TT3Z6Y9 Supportive Autosomal dominant [1]
DICER1 TTTEOPU Strong Biomarker [2]
KEAP1 TT3Z6Y9 Strong GermlineCausalMutation [1]
DICER1 TTTEOPU Definitive Autosomal dominant [3]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KEAP1 OTFHOD0C Supportive Autosomal dominant [1]
AMELX OTIN26MM Strong Biomarker [4]
TG OT3ELHIJ Strong Genetic Variation [5]
DICER1 OTTVSEY0 Definitive Autosomal dominant [3]
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References

1 Identification of a KEAP1 germline mutation in a family with multinodular goitre. PLoS One. 2013 May 28;8(5):e65141. doi: 10.1371/journal.pone.0065141. Print 2013.
2 Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. doi: 10.1210/jc.2016-2954.
3 Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome. Hum Pathol. 2015 Jun;46(6):917-22. doi: 10.1016/j.humpath.2015.02.008. Epub 2015 Mar 5.
4 Radioiodine therapy of benign thyroid-disorders.Nuklearmedizin. 2017;56(5):171-176. doi: 10.3413/Nukmed-0875-17-01. Epub 2018 Jan 4.
5 New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism.Mol Cell Endocrinol. 2013 Jan 30;365(2):277-91. doi: 10.1016/j.mce.2012.11.002. Epub 2012 Nov 16.