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 57 29 13 6
Euthyroid Goiter 57 75 73
Goiter Euthyroid 55 73
Simple Goiter 57 75
Mng1 57 75
Goiter, Multinodular, Type 1, with or Without Sertoli-Leydig Cell Tumors 40
Goiter Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 75
Goiter, Nontoxic, with Intrathyroidal Calcification 57
Goiter Non-Toxic with Intrathyroidal Calcification 75
Goiter Nontoxic with Intrathyroidal Calcification 75
Multinodular Goiter, Adolescent 57
Multinodular Goiter Adolescent 75
Familial Multinodular Goiter 59
Endemic Goiter 73
Familial Mng 59
Fmng 59

Characteristics:

Orphanet epidemiological data:

59
familial multinodular goiter
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age on onset - adolescence


HPO:

32
goiter, multinodular 1, with or without sertoli-leydig cell tumors:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


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

OMIM : 57 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 pendred syndrome and endemic goiter. 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. Affiliated tissues include thyroid, ovary and testes, and related phenotypes are renal cell carcinoma and ovarian neoplasm

UniProtKB/Swiss-Prot : 75 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 all 48)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 31.9 TPO TG
2 endemic goiter 31.9 TPO TG
3 goiter 30.8 TPO TG DICER1
4 hyperthyroidism 30.2 TPO TG
5 thyroiditis 29.9 TPO TG
6 graves' disease 29.6 TPO TG
7 multinodular goiter 29.6 TPO TG DICER1
8 thyroid cancer, nonmedullary, 4 11.3
9 blepharochalasis and double lip 11.3
10 goiter, multinodular 2 11.1
11 goiter, multinodular 3 11.1
12 thyroid cancer, nonmedullary, 1 10.2
13 thyroid carcinoma, familial medullary 10.1
14 adenocarcinoma 10.0
15 virilizing ovarian tumor 10.0
16 well-differentiated fetal adenocarcinoma of the lung 10.0
17 malignant sertoli-leydig cell tumor of the ovary 10.0
18 nodular goiter 9.9 TPO TG
19 subacute lymphocytic thyroiditis 9.9 TPO TG
20 familial thyroid dyshormonogenesis 9.9 TPO TG
21 neonatal hypothyroidism 9.9 TPO TG
22 hypothyroidism 9.9 TPO TG
23 plummer's disease 9.9 TPO TG
24 nontoxic goiter 9.9 TPO TG
25 premature menopause 9.9 TPO TG
26 graves disease 1 9.9 TPO TG
27 subacute thyroiditis 9.9 TPO TG
28 toxic diffuse goiter 9.9 TPO TG
29 myxedema 9.9 TPO TG
30 pernicious anemia 9.9 TPO TG
31 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 TPO TG
32 hypothyroidism, congenital, nongoitrous, 4 9.9 TPO TG
33 autoimmune disease of endocrine system 9.9 TPO TG
34 autoimmune disease 9.9 TPO TG
35 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9 TPO TG
36 thyroid gland disease 9.9 TPO TG
37 follicular adenoma 9.9 TPO TG
38 anaplastic thyroid cancer 9.9 TPO TG
39 turner syndrome 9.9 TPO TG
40 papillary carcinoma 9.9 TPO TG
41 immune system disease 9.9 TPO TG
42 congenital hypothyroidism 9.8 TPO TG
43 hashimoto thyroiditis 9.8 TPO TG
44 thyroid cancer, nonmedullary, 2 9.8 TPO TG
45 celiac disease 1 9.8 TPO TG
46 differentiated thyroid carcinoma 9.7 TPO TG DICER1
47 thyroid cancer 9.7 TPO TG DICER1
48 diabetes mellitus, insulin-dependent 9.7 TPO TG

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...

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
euthyroid multinodular goiter

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


Clinical features from OMIM:

138800

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

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0005584
2 ovarian neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0100615
3 colorectal polyposis 59 32 frequent (33%) Frequent (79-30%) HP:0200063
4 thyroid carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002890
5 pilomatrixoma 59 32 very rare (1%) Very rare (<4-1%) HP:0030434
6 multinodular goiter 59 32 obligate (100%) Obligate (100%) HP:0005987
7 basal cell carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0002671
8 pleuropulmonary blastoma 59 32 frequent (33%) Frequent (79-30%) HP:0100528
9 testicular seminoma 59 32 frequent (33%) Frequent (79-30%) HP:0100617
10 sertoli cell neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0100619
11 alveolar rhabdomyosarcoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006779
12 cerebellar medulloblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0007129
13 medulloepithelioma 59 32 very rare (1%) Very rare (<4-1%) HP:0030071
14 hyperthyroidism 59 Excluded (0%)
15 papillary thyroid carcinoma 32 HP:0002895
16 euthyroid multinodular goiter 32 HP:0000866

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.26 DICER1 KEAP1 TG TPO
2 limbs/digits/tail MP:0005371 8.8 DICER1 TG TPO

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

Search Clinical Trials , 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:

41
Thyroid, Ovary, Testes, Pituitary, Lung, T Cells

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 30)
# Title Authors Year
1
The effect of Metformin treatment in obese insulin-resistant patients with euthyroid goiter. ( 29452573 )
2018
2
Diagnostic performance of thyroid ultrasonography screening in pediatric patients with a hypothyroid, hyperthyroid or euthyroid goiter. ( 26298554 )
2016
3
The effect of iron supplement on children with euthyroid goiter: a randomized placebo-controlled clinical trial. ( 25254085 )
2014
4
Persistent cellular metabolic changes after hemithyroidectomy for benign euthyroid goiter. ( 24847460 )
2014
5
Incidental papillary thyroid carcinoma: clinical characteristics and prognostic factors among patients with Graves' disease and euthyroid goiter, Cleveland Clinic experience. ( 25128909 )
2014
6
Quality of life after thyroid surgery in women with benign euthyroid goiter: influencing factors including Hashimoto's thyroiditis. ( 24070662 )
2013
7
Euthyroid goiter with and without nodules--diagnosis and treatment. ( 23008749 )
2012
8
Fetal euthyroid goiter. ( 20108061 )
2009
9
[Triiodothyroacetic acid in euthyroid goiter. New data on its mechanisms of action. Comparison with L-thyroxin]. ( 18666468 )
2007
10
The loss of the chloride channel, ClC-5, delays apical iodide efflux and induces a euthyroid goiter in the mouse thyroid gland. ( 16306076 )
2006
11
Genome-wide linkage analysis reveals evidence for four new susceptibility loci for familial euthyroid goiter. ( 15292347 )
2004
12
Comparative efficacy and side effects of the treatment of euthyroid goiter with levo-thyroxine or triiodothyroacetic acid. ( 14602763 )
2003
13
Orthopnea and tidal expiratory flow limitation in patients with euthyroid goiter. ( 12853515 )
2003
14
[Recurrence of poly-nodular euthyroid goiter]. ( 11944240 )
2001
15
[Total thyroidectomy in surgical treatment of euthyroid goiter]. ( 10736991 )
1999
16
Linkage of familial euthyroid goiter to the multinodular goiter-1 locus and exclusion of the candidate genes thyroglobulin, thyroperoxidase, and Na+/I- symporter. ( 10523025 )
1999
17
Diagnostic imaging of euthyroid goiter. ( 10509129 )
1999
18
[Euthyroid goiter in puberty--a harmless illness?]. ( 8901187 )
1996
19
Effect of posture on the flow-volume loop in two patients with euthyroid goiter. ( 8989088 )
1996
20
Association of thyroid-stimulating immunoglobulins and thyrotropin-releasing hormone responsiveness in women with euthyroid goiter. ( 6137491 )
1983
21
Study of the pituitary-thyroid axis in euthyroid goiter after partial thyroidectomy. ( 6672072 )
1983
22
Vascular lesions in euthyroid goiter. ( 7361068 )
1980
23
Structure-function relationship in euthyroid goiter (an electronmicroscopical study. ( 7384731 )
1980
24
[Thyroid tissue link of hemostasis in diffuse toxic and euthyroid goiter]. ( 582337 )
1979
25
Scanning electron microscopy of euthyroid goiter and Graves's disease. ( 142911 )
1977
26
Upper airway obstruction in euthyroid goiter. ( 578828 )
1977
27
[Cell-mediated immune-phenomenona in hyperthyroidism and euthyroid goiter (studies using the lymphocyte transformation test)]. ( 1224737 )
1975
28
Influence of iodine on the plasma level of thyroxine and triiodothyronin in euthyroid goiter and hyperthyroidism. ( 1150139 )
1975
29
Thyroid-stimulating hormone levels in idiopathic euthyroid goiter. ( 1150864 )
1975
30
Defective deiodination of 131-I-labeled L-diiodotyrosine in a family with cases of euthyroid goiter and hyperthyroidism. ( 4998425 )
1971

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

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

75
# Symbol AA change Variation ID SNP ID
1 DICER1 p.Ser839Phe VAR_065301 rs387906934

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DICER1 DICER1, SER1826TER single nucleotide variant Pathogenic
2 DICER1 DICER1, 4-BP DEL, 871AAAG deletion Pathogenic
3 DICER1 DICER1, IVS17AS, G-T, -1 single nucleotide variant Pathogenic
4 DICER1 DICER1, 2457C-G single nucleotide variant Pathogenic
5 DICER1 NM_177438.2(DICER1): c.2516C> T (p.Ser839Phe) single nucleotide variant Pathogenic rs387906934 GRCh37 Chromosome 14, 95574351: 95574351
6 DICER1 NM_177438.2(DICER1): c.2516C> T (p.Ser839Phe) single nucleotide variant Pathogenic rs387906934 GRCh38 Chromosome 14, 95108014: 95108014

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 DICER1 KEAP1
2 9.4 TG TPO

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 TG TPO

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

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