Goiter, multinodular 1, with or without sertoli-leydig cell tumors

Preferred Label : Goiter, multinodular 1, with or without sertoli-leydig cell tumors;

Symbol : MNG1;

CISMeF acronym : MNG1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Goiter, nontoxic, with intrathyroidal calcification; Simple goiter; Multinodular goiter, adolescent; Euthyroid goiter;

Description : Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary (summary by Rio Frio et al., 2011). - Genetic Heterogeneity of Multinodular Goiter Other MNG loci map to chromosome Xp22 (MNG2; 300273) and chromosome 3q26 (MNG3; 606082).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the Drosophila DICER 1 gene (DICER1, 606241.0007).;

Neoplasia : Papillary thyroid carcinoma (rare); Sertoli-Leydig cell ovarian tumors may occur;

Prefixed ID : #138800;

Details

Origin ID

138800;

UMLS CUI

C0302859;

Automatic exact mappings (from CISMeF team)
- DICER1 wt Allele [NCIt concept]
- Euthyroid goiter (disorder) [SNOMED CT concept]
- Familial multinodular goiter [ORDO Disease]
- Goiter, specified as simple [ICD-9 code]
- Malignant Sertoli-Leydig cell tumor of the ovary [ORDO Disease]
- Nontoxic Goiter [NCIt concept]
- Simple goiter [PASCAL descriptor]
- Simple goiter [MedDRA LLT]
- euthyroid goiter [MeSH concept]
- euthyroid goiter [MeSH Supplementary Concept]
- goitre [ICPC-2 Rubric]
- symbol withdrawn MNG1 [HGNC gene]
DO Cross reference
- multinodular goiter [DO Concept]
False automatic mappings
- Endemic Goiter [NCIt concept]
- Endemic goiter (disorder) [SNOMED CT concept]
- Euthyroid goiter [HPO term]
- Euthyroid goiter [MedDRA LLT]
- Euthyroid goitre [MedDRA LLT]
- Simple goiter (disorder) [SNOMED CT concept]
- Simple goitre [MedDRA LLT]
Genes related to phenotype
- Dicer 1, ribonuclease III [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Euthyroid multinodular goiter [HPO term]
- Papillary thyroid carcinoma [HPO term]
ORDO concept(s)
- Familial multinodular goiter [ORDO Disease]
See also inter- (CISMeF)
- endemic goiter [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Euthyroid goiter [HPO term]
- Euthyroid goiter [MedDRA LLT]
- Euthyroid goiter (disorder) [SNOMED CT concept]
- Euthyroid goitre [MedDRA LLT]
- euthyroid goiter [MeSH concept]
- euthyroid goiter [MeSH Supplementary Concept]

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