Familial multinodular goiter

General Information (adopted from Orphanet):

Synonyms, Signs: GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION
EUTHYROID GOITER
SIMPLE GOITER
MULTINODULAR GOITER, ADOLESCENT
MNG1
FMNG
Familial MNG
Number of Symptoms 4
OrphanetNr: 276399
OMIM Id: 138800
ICD-10: E04.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
Rare genetic thyroid disease
 -Rare genetic disease
Rare thyroid disease
 -Rare endocrine disease

Symptom Information: Sort by abundance 

1
(HPO:0000866) Euthyroid multinodular goiter 2 / 7739
2
(HPO:0002895) Papillary thyroid carcinoma 10 / 7739
3
(OMIM) Sertoli-Leydig cell ovarian tumors may occur 1 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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).

...

Clinical Description OMIM Murray et al. (1966) described a family in which members of 5 generations had nontoxic goiter appearing in the early teens. Calcification and firm, nodular consistency were unusual features. None of the known defects in thyroid hormonogenesis could ...
Molecular genetics OMIM In affected members of 5 unrelated families with autosomal dominant multinodular goiter with or without Sertoli-Leydig cell tumors, Rio Frio et al. (2011) identified 5 different heterozygous mutations in the DICER1 gene (see, e.g., 606241.0007-606241.0010). Four of the ...