Details of Disease

General Information of Disease (ID: DISZQJH7)

Disease Name Multinodular goiter
Synonyms goiter, multinodular
Definition Nodular goiter characterized by more than one discrete tissue mass.
Disease Hierarchy
DISYKSRF: Genetic disease
:
DISZQJH7: Multinodular goiter
Disease Identifiers
MONDO ID
MONDO_0000334
UMLS CUI
C0342208
MedGen ID
87431
HPO ID
HP:0005987
SNOMED CT ID
237570007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRIM24 TT9Q7AE Limited Biomarker [1]
KEAP1 TT3Z6Y9 moderate Genetic Variation [2]
DICER1 TTTEOPU Strong Biomarker [3]
F9 TTFEZ5Q Strong Genetic Variation [4]
TSHR TT6NYJA Strong Genetic Variation [5]
------------------------------------------------------------------------------------
This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CENPJ OTZCQZN5 Limited Biomarker [6]
CLTC OTBFASMA Limited Altered Expression [7]
FOXE1 OT5IR5IT Limited Biomarker [8]
CCDC6 OTXRQDYG Strong Genetic Variation [4]
DGCR8 OT62LXE4 Strong Genetic Variation [3]
SEL1L OTC0FB7T Strong Biomarker [9]
TAS2R38 OTX5MM36 Strong Genetic Variation [4]
TG OT3ELHIJ Strong Biomarker [10]
------------------------------------------------------------------------------------
⏷ Show the Full List of 8 DOT(s)

References

1 Two families with an autosomal dominant inheritance pattern for papillary carcinoma of the thyroid.J Clin Endocrinol Metab. 1997 Feb;82(2):345-8. doi: 10.1210/jcem.82.2.3789.
2 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.
3 DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206.
4 Molecular Testing for Oncogenic Gene Alterations in Pediatric Thyroid Lesions.Thyroid. 2018 Jan;28(1):60-67. doi: 10.1089/thy.2017.0059. Epub 2017 Dec 11.
5 The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms.Genet Test Mol Biomarkers. 2013 Feb;17(2):109-14. doi: 10.1089/gtmb.2012.0263.
6 BRAF V600E mutation and microRNAs are helpful in distinguishing papillary thyroid malignant lesions: Tissues and fine needle aspiration cytology cases.Life Sci. 2019 Apr 15;223:166-173. doi: 10.1016/j.lfs.2019.03.034. Epub 2019 Mar 16.
7 Dysregulation of clathrin promotes thyroid cell growth and contributes to multinodular goiter pathogenesis.Biochim Biophys Acta. 2015 Aug;1852(8):1676-86. doi: 10.1016/j.bbadis.2015.05.005. Epub 2015 May 13.
8 Somatic Mutations of FOXE1 in Papillary Thyroid Cancer.Thyroid. 2015 Aug;25(8):904-10. doi: 10.1089/thy.2015.0030. Epub 2015 Jun 19.
9 SEL1L microsatellite polymorphism in Japanese patients with autoimmune thyroid diseases.Thyroid. 2001 Apr;11(4):335-8. doi: 10.1089/10507250152039064.
10 Thyroid autoimmunity: is really associated with papillary thyroid carcinoma?.Eur Arch Otorhinolaryngol. 2017 Mar;274(3):1677-1681. doi: 10.1007/s00405-016-4414-6. Epub 2016 Dec 8.