MNG1
MCID: GTR011
MIFTS: 42

Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors (MNG1)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

MalaCards integrated aliases for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

Name: Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 56 29 13 6
Euthyroid Goiter 56 73 71
Goiter Euthyroid 54 71
Simple Goiter 56 73
Mng1 56 73
Goiter, Multinodular, Type 1, with or Without Sertoli-Leydig Cell Tumors 39
Goiter Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 73
Goiter, Nontoxic, with Intrathyroidal Calcification 56
Goiter Non-Toxic with Intrathyroidal Calcification 73
Goiter Nontoxic with Intrathyroidal Calcification 73
Multinodular Goiter, Adolescent 56
Multinodular Goiter Adolescent 73
Familial Multinodular Goiter 58
Endemic Goiter 71
Familial Mng 58
Fmng 58

Characteristics:

Orphanet epidemiological data:

58
familial multinodular goiter
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age on onset - adolescence


HPO:

31
goiter, multinodular 1, with or without sertoli-leydig cell tumors:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

OMIM : 56 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). (138800)

MalaCards based summary : Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors, also known as euthyroid goiter, is related to endemic goiter and pendred syndrome. An important gene associated with Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors is DICER1 (Dicer 1, Ribonuclease III), and among its related pathways/superpathways are Translational Control and Thyroxine (Thyroid Hormone) Production. The drugs Iodine and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include thyroid, ovary and t cells, and related phenotypes are multinodular goiter and renal cell carcinoma

UniProtKB/Swiss-Prot : 73 Goiter multinodular 1, with or without Sertoli-Leydig cell tumors: A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary.

Related Diseases for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Diseases related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 endemic goiter 32.4 TPO TG
2 pendred syndrome 31.8 TPO TG
3 thyroid carcinoma 30.4 TPO TG
4 nodular goiter 30.4 TPO TG
5 graves disease 1 30.2 TPO TG
6 hyperthyroidism 30.2 TPO TG
7 nontoxic goiter 30.0 TPO TG
8 thyroiditis 29.8 TPO TG
9 hashimoto thyroiditis 29.7 TPO TG
10 myxedema 29.6 TPO TG
11 goiter 29.6 TPO TG DICER1
12 graves' disease 29.6 TPO TG
13 follicular adenoma 29.5 TPO TG
14 plummer's disease 29.4 TPO TG
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 29.3 TPO TG
16 thyroid gland disease 29.3 TPO TG
17 exophthalmos 29.3 TPO TG
18 multinodular goiter 29.3 TPO TG DICER1
19 thyroid cancer, nonmedullary, 4 11.5
20 blepharochalasis and double lip 11.4
21 goiter, multinodular 2 11.2
22 goiter, multinodular 3 11.2
23 thyroid cancer, nonmedullary, 1 10.4
24 leydig cell tumor 10.3
25 sertoli-leydig cell tumor 10.3
26 hypothyroidism 10.3
27 pleuropulmonary blastoma 10.3
28 dicer1-related disorders 10.3
29 thyroid gland papillary carcinoma 10.3
30 familial papillary or follicular thyroid carcinoma 10.3
31 embryoma 10.2
32 dicer1-related pleuropulmonary blastoma cancer predisposition syndrome 10.2
33 adenoma 10.2
34 thyroid carcinoma, familial medullary 10.1
35 thyroid carcinoma, nonmedullary, with or without cell oxyphilia 10.1
36 thyroid cancer, nonmedullary, 3 10.1
37 familial adenomatous polyposis 10.1
38 thyroid gland medullary carcinoma 10.1
39 familial nonmedullary thyroid carcinoma 10.1
40 tumor predisposition syndrome 10.0
41 cystic nephroma 10.0
42 neurilemmomatosis 10.0
43 virilizing ovarian tumor 10.0
44 well-differentiated fetal adenocarcinoma of the lung 10.0
45 malignant sertoli-leydig cell tumor of the ovary 10.0
46 atrial standstill 1 10.0
47 branchiootic syndrome 1 10.0
48 hyperprolactinemia 10.0
49 deficiency anemia 10.0
50 arteriovenous malformation 10.0

Graphical network of the top 20 diseases related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:



Diseases related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors

Symptoms & Phenotypes for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Human phenotypes related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multinodular goiter 58 31 obligate (100%) Obligate (100%) HP:0005987
2 renal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0005584
3 ovarian neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0100615
4 colorectal polyposis 58 31 frequent (33%) Frequent (79-30%) HP:0200063
5 basal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002671
6 sertoli cell neoplasm 58 31 frequent (33%) Frequent (79-30%) HP:0100619
7 pleuropulmonary blastoma 58 31 frequent (33%) Frequent (79-30%) HP:0100528
8 testicular seminoma 58 31 frequent (33%) Frequent (79-30%) HP:0100617
9 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890
10 pilomatrixoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030434
11 alveolar rhabdomyosarcoma 58 31 very rare (1%) Very rare (<4-1%) HP:0006779
12 cerebellar medulloblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0007129
13 medulloepithelioma 58 31 very rare (1%) Very rare (<4-1%) HP:0030071
14 hyperthyroidism 58 Excluded (0%)
15 papillary thyroid carcinoma 31 HP:0002895
16 euthyroid multinodular goiter 31 HP:0000866

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
euthyroid multinodular goiter

Neoplasia:
papillary thyroid carcinoma (rare)
sertoli-leydig cell ovarian tumors may occur

Clinical features from OMIM:

138800

MGI Mouse Phenotypes related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 DICER1 TG TPO

Drugs & Therapeutics for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Drugs for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational 7553-56-2 807
2 Micronutrients
3 Anti-Infective Agents
4 Nutrients
5 Trace Elements
6 cadexomer iodine
7 Anti-Infective Agents, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cases of Goiter in Children Attending Assiut University Children Hospital Unknown status NCT03202160
2 Iodine Supplementation in Pregnant Women Living in Mild-to-moderately Iodine Deficient Areas in India and Thailand: Effects on Pregnancy Outcome and Infant Development Completed NCT00791466

Search NIH Clinical Center for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors

Genetic Tests for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Genetic tests related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

# Genetic test Affiliating Genes
1 Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 29 DICER1

Anatomical Context for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

MalaCards organs/tissues related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

40
Thyroid, Ovary, T Cells, Heart, Lung

Publications for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Articles related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

(show all 25)
# Title Authors PMID Year
1
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. 61 56 6
9345104 1997
2
DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. 56 6
21205968 2011
3
Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter. 56 6
18570301 2008
4
Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma. 56 6
9295070 1997
5
Familial thyroid nodulation and arrhenoblastoma. 56 6
6261577 1981
6
Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter. 54 56
10523025 1999
7
DICER1-Related Disorders 6
24761742 2014
8
Germline DICER1 mutations and familial cystic nephroma. 6
21036787 2010
9
Major role of genes in the etiology of simple goiter in females: a population-based twin study. 56
10487667 1999
10
An autosomal dominant form of adolescent multinodular goiter. 56
3799599 1986
11
Familial arrhenoblastoma and thyroid adenoma. 56
4358956 1974
12
Unusual familial goiter associated with intrathyroidal calcification. 56
4162574 1966
13
Familial non-medullary thyroid cancer: unraveling the genetic maze. 61
27807061 2016
14
Allelic loss of susceptibility loci and the occurrence of BRAF and RAS mutations in patients with familial non-medullary thyroid cancer. 61
21826673 2012
15
Familial nonmedullary thyroid cancer: a review of the genetics. 61
20465534 2010
16
Mapping a new familial thyroid epithelial neoplasia susceptibility locus to chromosome 8p23.1-p22 by high-density single-nucleotide polymorphism genome-wide linkage analysis. 61
18765515 2008
17
Familial non-medullary thyroid carcinoma (FNMTC): analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations. 61
18310288 2008
18
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. 54
16720658 2006
19
A Greek family with a follicular variant of familial papillary thyroid carcinoma: TCO, MNG1, fPTC/PRN, and NMTC1 excluded as susceptibility loci. 61
16405407 2005
20
Further indications for genetic heterogeneity of euthyroid familial goiter. 54
14564411 2003
21
Thyroglobulin mRNA quantification in the peripheral blood is not a reliable marker for the follow-up of patients with differentiated thyroid cancer. 54
12444888 2002
22
A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1. 61
11502798 2001
23
Genetic and environmental factors in the aetiology of simple goitre. 61
10821321 2000
24
At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family. 61
10427154 1999
25
Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium. 61
10372725 1999

Variations for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

ClinVar genetic disease variations for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DICER1 NM_177438.2(DICER1):c.5477C>A (p.Ser1826Ter)SNV Pathogenic 30562 14:95557590-95557590 14:95091253-95091253
2 DICER1 NM_177438.2(DICER1):c.873_877del (p.Glu292fs)deletion Pathogenic 30563 14:95592943-95592947 14:95126606-95126610
3 DICER1 NM_177438.2(DICER1):c.2805-1G>TSNV Pathogenic 30564 14:95572561-95572561 14:95106224-95106224
4 DICER1 NM_177438.2(DICER1):c.2457C>G (p.Tyr819Ter)SNV Pathogenic 30565 14:95574410-95574410 14:95108073-95108073
5 DICER1 NM_177438.2(DICER1):c.2516C>T (p.Ser839Phe)SNV Pathogenic 30566 rs387906934 14:95574351-95574351 14:95108014-95108014
6 DICER1 NM_177438.2(DICER1):c.5441C>T (p.Ser1814Leu)SNV Pathogenic/Likely pathogenic 412119 rs1060503625 14:95557626-95557626 14:95091289-95091289
7 DICER1 NM_177438.2(DICER1):c.359A>T (p.Lys120Met)SNV Uncertain significance 412081 rs1060503608 14:95597925-95597925 14:95131588-95131588
8 DICER1 NM_177438.2(DICER1):c.3722A>G (p.Lys1241Arg)SNV Uncertain significance 477160 rs764415288 14:95570011-95570011 14:95103674-95103674
9 DICER1 NM_177438.2(DICER1):c.4449G>A (p.Met1483Ile)SNV Uncertain significance 577152 rs1454569806 14:95562808-95562808 14:95096471-95096471
10 DICER1 NM_177438.2(DICER1):c.3578A>G (p.Asn1193Ser)SNV Uncertain significance 569594 rs1288723916 14:95570155-95570155 14:95103818-95103818
11 DICER1 NM_177438.2(DICER1):c.3890T>C (p.Ile1297Thr)SNV Uncertain significance 543654 rs761578934 14:95569843-95569843 14:95103506-95103506
12 DICER1 NM_177438.2(DICER1):c.2536A>G (p.Ile846Val)SNV Uncertain significance 477106 rs201212908 14:95574331-95574331 14:95107994-95107994
13 DICER1 NM_177438.2(DICER1):c.4475T>C (p.Met1492Thr)SNV Uncertain significance 483407 rs370947079 14:95562782-95562782 14:95096445-95096445
14 DICER1 NM_177438.2(DICER1):c.4923T>G (p.Cys1641Trp)SNV Uncertain significance 133973 rs587778231 14:95562334-95562334 14:95095997-95095997
15 DICER1 NM_177438.2(DICER1):c.5738A>G (p.Lys1913Arg)SNV Uncertain significance 315100 rs752116341 14:95556866-95556866 14:95090529-95090529
16 DICER1 NM_177438.2(DICER1):c.2494A>G (p.Lys832Glu)SNV Uncertain significance 412093 rs1060503613 14:95574373-95574373 14:95108036-95108036

UniProtKB/Swiss-Prot genetic disease variations for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

73
# Symbol AA change Variation ID SNP ID
1 DICER1 p.Ser839Phe VAR_065301 rs387906934

Expression for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Search GEO for disease gene expression data for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors.

Pathways for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Pathways related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.24 KEAP1 DICER1
2 9.4 TPO TG

GO Terms for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

Biological processes related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone biosynthetic process GO:0042446 8.62 TPO TG

Sources for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell...

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