MCID: GTR011
MIFTS: 38

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

Categories: Genetic diseases, Endocrine 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 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. Affiliated tissues include thyroid, ovary and testes, and related phenotypes are multinodular goiter and basal cell carcinoma

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 43)
# Related Disease Score Top Affiliating Genes
1 endemic goiter 31.5 TG TPO
2 pendred syndrome 31.4 TG TPO
3 thyroiditis 29.9 TG TPO
4 goiter 29.5 DICER1 TG TPO
5 thyroid cancer, nonmedullary, 4 11.2
6 blepharochalasis and double lip 11.1
7 goiter, multinodular 2 10.9
8 goiter, multinodular 3 10.9
9 thyroid cancer, nonmedullary, 1 10.1
10 thyroid carcinoma, familial medullary 9.9
11 familial thyroid dyshormonogenesis 9.8 TG TPO
12 subacute lymphocytic thyroiditis 9.8 TG TPO
13 neonatal hypothyroidism 9.8 TG TPO
14 plummer's disease 9.8 TG TPO
15 premature menopause 9.8 TG TPO
16 graves disease 1 9.8 TG TPO
17 hypothyroidism, congenital, nongoitrous, 4 9.8 TG TPO
18 nontoxic goiter 9.8 TG TPO
19 myxedema 9.8 TG TPO
20 toxic diffuse goiter 9.8 TG TPO
21 subacute thyroiditis 9.8 TG TPO
22 pernicious anemia 9.8 TG TPO
23 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 TG TPO
24 nodular goiter 9.8 TG TPO
25 autoimmune disease of endocrine system 9.7 TG TPO
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7 TG TPO
27 thyroid gland disease 9.7 TG TPO
28 anaplastic thyroid cancer 9.7 TG TPO
29 follicular adenoma 9.7 TG TPO
30 hypersensitivity reaction disease 9.7 TG TPO
31 turner syndrome 9.6 TG TPO
32 congenital hypothyroidism 9.6 TG TPO
33 papillary carcinoma 9.6 TG TPO
34 hyperthyroidism 9.6 TG TPO
35 hashimoto thyroiditis 9.6 TG TPO
36 thyroid cancer, nonmedullary, 2 9.5 TG TPO
37 celiac disease 1 9.5 TG TPO
38 graves' disease 9.4 TG TPO
39 hypothyroidism 9.3 TG TPO
40 diabetes mellitus, insulin-dependent 9.2 TG TPO
41 multinodular goiter 9.2 DICER1 TG TPO
42 differentiated thyroid carcinoma 9.2 DICER1 TG TPO
43 autoimmune disease 9.0 TG TPO

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

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 8.92 DICER1 KEAP1 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

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 15)
# Title Authors Year
1
The effect of iron supplement on children with euthyroid goiter: a randomized placebo-controlled clinical trial. ( 25254085 )
2014
2
Quality of life after thyroid surgery in women with benign euthyroid goiter: influencing factors including Hashimoto's thyroiditis. ( 24070662 )
2013
3
Euthyroid goiter with and without nodules--diagnosis and treatment. ( 23008749 )
2012
4
Fetal euthyroid goiter. ( 20108061 )
2009
5
[Triiodothyroacetic acid in euthyroid goiter. New data on its mechanisms of action. Comparison with L-thyroxin]. ( 18666468 )
2007
6
Comparative efficacy and side effects of the treatment of euthyroid goiter with levo-thyroxine or triiodothyroacetic acid. ( 14602763 )
2003
7
[Recurrence of poly-nodular euthyroid goiter]. ( 11944240 )
2001
8
[Total thyroidectomy in surgical treatment of euthyroid goiter]. ( 10736991 )
1999
9
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
10
[Euthyroid goiter in puberty--a harmless illness?]. ( 8901187 )
1996
11
Effect of posture on the flow-volume loop in two patients with euthyroid goiter. ( 8989088 )
1996
12
Association of thyroid-stimulating immunoglobulins and thyrotropin-releasing hormone responsiveness in women with euthyroid goiter. ( 6137491 )
1983
13
[Thyroid tissue link of hemostasis in diffuse toxic and euthyroid goiter]. ( 582337 )
1979
14
Scanning electron microscopy of euthyroid goiter and Graves's disease. ( 142911 )
1977
15
[Cell-mediated immune-phenomenona in hyperthyroidism and euthyroid goiter (studies using the lymphocyte transformation test)]. ( 1224737 )
1975

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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