MCID: GTR011
MIFTS: 36

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 53 28 13
Euthyroid Goiter 53 71 69
Goiter Euthyroid 51 69
Simple Goiter 53 71
Mng1 53 71
Goiter Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 71
Goiter, Nontoxic, with Intrathyroidal Calcification 53
Goiter Non-Toxic with Intrathyroidal Calcification 71
Goiter Nontoxic with Intrathyroidal Calcification 71
Multinodular Goiter, Adolescent 53
Multinodular Goiter Adolescent 71
Familial Multinodular Goiter 55
Endemic Goiter 69
Familial Mng 55
Fmng 55

Characteristics:

Orphanet epidemiological data:

55
familial multinodular goiter
Inheritance: Autosomal dominant; Age of onset: Adolescent;

OMIM:

53
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: 55  
Rare endocrine diseases


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

OMIM : 53 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, and has symptoms including renal cell carcinoma, ovarian neoplasm and colorectal polyposis. 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 and ovary.

UniProtKB/Swiss-Prot : 71 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 44)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 31.6 TG TPO
2 endemic goiter 31.6 TG TPO
3 thyroiditis 30.0 TG TPO
4 goiter 29.6 DICER1 TG TPO
5 thyroid cancer, nonmedullary, 1 29.4 TG TPO
6 thyroid cancer, nonmedullary, 4 11.2
7 blepharochalasis and double lip 11.1
8 goiter, multinodular 2 10.9
9 goiter, multinodular 3 10.9
10 thyroid carcinoma, nonmedullary, with or without cell oxyphilia 10.2
11 familial thyroid dyshormonogenesis 9.9 TG TPO
12 subacute lymphocytic thyroiditis 9.9 TG TPO
13 neonatal hypothyroidism 9.9 TG TPO
14 thyroid carcinoma, familial medullary 9.9
15 familial papillary or follicular thyroid carcinoma 9.9
16 plummer's disease 9.9 TG TPO
17 premature menopause 9.9 TG TPO
18 graves disease 1 9.9 TG TPO
19 hypothyroidism, congenital, nongoitrous, 4 9.9 TG TPO
20 myxedema 9.9 TG TPO
21 nontoxic goiter 9.9 TG TPO
22 subacute thyroiditis 9.9 TG TPO
23 pernicious anemia 9.9 TG TPO
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 TG TPO
25 toxic diffuse goiter 9.8 TG TPO
26 nodular goiter 9.8 TG TPO
27 autoimmune disease of endocrine system 9.8 TG TPO
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8 TG TPO
29 thyroid gland disease 9.8 TG TPO
30 follicular adenoma 9.8 TG TPO
31 congenital hypothyroidism 9.8 TG TPO
32 hypersensitivity reaction disease 9.8 TG TPO
33 papillary carcinoma 9.8 TG TPO
34 turner syndrome 9.8 TG TPO
35 hyperthyroidism 9.7 TG TPO
36 thyroid cancer, nonmedullary, 2 9.7 TG TPO
37 hashimoto thyroiditis 9.7 TG TPO
38 celiac disease 1 9.7 TG TPO
39 hypothyroidism 9.7 TG TPO
40 graves' disease 9.6 TG TPO
41 diabetes mellitus, insulin-dependent 9.5 TG TPO
42 multinodular goiter 9.5 DICER1 TG TPO
43 differentiated thyroid carcinoma 9.5 DICER1 TG TPO
44 autoimmune disease 9.4 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:

53
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:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cell carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0005584
2 ovarian neoplasm 55 31 frequent (33%) Frequent (79-30%) HP:0100615
3 colorectal polyposis 55 31 frequent (33%) Frequent (79-30%) HP:0200063
4 thyroid carcinoma 55 31 very rare (1%) Very rare (<4-1%) HP:0002890
5 pilomatrixoma 55 31 very rare (1%) Very rare (<4-1%) HP:0030434
6 multinodular goiter 55 31 obligate (100%) Obligate (100%) HP:0005987
7 basal cell carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0002671
8 pleuropulmonary blastoma 55 31 frequent (33%) Frequent (79-30%) HP:0100528
9 testicular seminoma 55 31 frequent (33%) Frequent (79-30%) HP:0100617
10 sertoli cell neoplasm 55 31 frequent (33%) Frequent (79-30%) HP:0100619
11 alveolar rhabdomyosarcoma 55 31 very rare (1%) Very rare (<4-1%) HP:0006779
12 cerebellar medulloblastoma 55 31 very rare (1%) Very rare (<4-1%) HP:0007129
13 medulloepithelioma 55 31 very rare (1%) Very rare (<4-1%) HP:0030071
14 hyperthyroidism 55 Excluded (0%)
15 papillary thyroid carcinoma 31 HP:0002895
16 euthyroid multinodular goiter 31 HP:0000866

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 28 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:

38
Thyroid, Ovary

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

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

# 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
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

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:

71
# 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....