KEGG DISEASE: Familial multinodular goiter

KEGG

DISEASE: Familial multinodular goiter

Entry

H02737                      Disease

Name

Familial multinodular goiter

Subgroup

Multinodular goiter-1 with or without Sertoli-Leydig cell tumors (MNG1)

Description

Multinodular goiter (MNG) is a common disorder characterized by a nodular enlargement of the thyroid gland. As opposed to toxic MNG, the non-toxic subtype does not result from an inflammatory or neoplastic process. Genetic defects may play a major role in the pathogenesis of familial non-toxic MNG. Some loci have been linked to familial MNG. Germline mutations in DICER1 have been identified as the cause of familial MNG with or without ovarian Sertoli-Leydig cell tumor. DICER1, a member of the RNaseIII family, is involved in the generation of microRNAs, that modulate gene expression at the posttranscriptional level.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the thyroid gland or thyroid hormones system
    5A01  Nontoxic goitre
     H02737  Familial multinodular goiter

Gene

(MNG1) DICER1 [HSA:23405] [KO:K11592]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Rio Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N, Pouchet C, Gilbert L, O'Brien PK, Serfas K, Broderick P, Houlston RS, Lesueur F, Bonora E, Muljo S, Schimke RN, Bouron-Dal Soglio D, Arseneau J, Schultz KA, Priest JR, Nguyen VH, Harach HR, Livingston DM, Foulkes WD, Tischkowitz M

Title

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors.

Journal

JAMA 305:68-77 (2011)
DOI:10.1001/jama.2010.1910

Reference

Authors

Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G, Foulkes WD

Title

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

Journal

Eur J Endocrinol 178:K11-K19 (2018)
DOI:10.1530/EJE-17-0904

Reference

Authors

Takahashi T, Nozaki J, Komatsu M, Wada Y, Utsunomiya M, Inoue K, Takada G, Koizumi A

Title

A new locus for a dominant form of multinodular goiter on 3q26.1-q26.3.

Journal

Biochem Biophys Res Commun 284:650-4 (2001)
DOI:10.1006/bbrc.2001.4998

Reference

Authors

Capon F, Tacconelli A, Giardina E, Sciacchitano S, Bruno R, Tassi V, Trischitta V, Filetti S, Dallapiccola B, Novelli G

Title

Mapping a dominant form of multinodular goiter to chromosome Xp22.

Journal

Am J Hum Genet 67:1004-7 (2000)
DOI:10.1086/303095

LinkDB

» Japanese version

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