MNG1
MCID: GTR011
MIFTS: 37

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

Categories: Genetic diseases, Endocrine diseases, Rare diseases

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

Aliases & Descriptions for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors:

Name: Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 54 13
Goiter Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 66 29
Euthyroid Goiter 66 69
Goiter Euthyroid 52 69
Goiter Non-Toxic with Intrathyroidal Calcification 66
Goiter Nontoxic with Intrathyroidal Calcification 66
Multinodular Goiter Adolescent 66
Familial Multinodular Goiter 56
Endemic Goiter 69
Simple Goiter 66
Familial Mng 56
Fmng 56
Mng1 66

Characteristics:

Orphanet epidemiological data:

56
familial multinodular goiter
Inheritance: Autosomal dominant; Age of onset: Adolescent;

HPO:

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


Classifications:

Orphanet: 56  
Rare endocrine diseases


External Ids:

OMIM 54 138800
Orphanet 56 ORPHA276399
ICD10 via Orphanet 34 E04.2
MeSH 42 D006044

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

OMIM : 54 Multinodular goiter (MNG) is a common disorder characterized by nodular enlargement of the thyroid gland. In MNG1, some... (138800) more...

MalaCards based summary : Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors, also known as goiter multinodular 1, with or without sertoli-leydig cell tumors, is related to endemic goiter and pendred syndrome, 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 Allograft rejection and Insulin secretion. Affiliated tissues include thyroid and ovary.

UniProtKB/Swiss-Prot : 66 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 65)
id Related Disease Score Top Affiliating Genes
1 endemic goiter 30.9 CALCA SERPINA7 TG TPO TSHR
2 pendred syndrome 11.2
3 thyroid cancer, nonmedullary, 4 11.1
4 fibrous meningioma 10.2 TG TPO
5 premature closure of the arterial duct 10.2 TG TPO
6 endophthalmitis 10.2 CALCA TG
7 corneal ectasia 10.2 CALCA TG
8 superior vena cava angiosarcoma 10.2 CALCA TG
9 tick paralysis 10.2 TG TPO
10 perineural angioma 10.2 CALCA TG
11 parietal lobe neoplasm 10.1 CALCA TG
12 frontal sinusitis 10.1 TG TPO
13 color blindness 10.1 TG TPO
14 echinostomiasis 10.1 SERPINA7 TG
15 hypogonadism cardiomyopathy 10.1 CALCA TG
16 multinodular goiter 10.1
17 goiter 10.1
18 childhood vagina botryoid rhabdomyosarcoma 10.1 CALCA TG
19 dysautonomia, familial 10.1 TG TPO
20 congenital nonspherocytic hemolytic anemia 10.1 SERPINA7 TPO
21 cowden syndrome 3 10.1 CALCA TG
22 childhood teratocarcinoma of the testis 10.0 CALCA TG
23 acute hemorrhagic encephalitis 10.0 TG TSHR
24 chronic eosinophilic pneumonia 10.0 CALCA TPO
25 mesocardia 10.0 TG TSHR
26 parachordoma 10.0 TG TSHR
27 caudal regression syndrome 10.0 TG TPO TSHB
28 extrahepatic bile duct adenocarcinoma 10.0 SERPINA7 TG TPO
29 bizarre leiomyoma 10.0 CALCA TG
30 dihydrolipoamide dehydrogenase deficiency 9.9 TG TPO
31 acute laryngitis 9.9 TG TSHR
32 neuhauser daly magnelli syndrome 9.9 TG TPO TSHR
33 conjunctival deposit 9.9 TG TPO TSHR
34 denys-drash syndrome 9.9 TG TPO TSHR
35 gastrinoma 9.9 CALCA TG TSHR
36 choreoathetosis, hypothyroidism, and neonatal respiratory distress 9.9 TG TPO TSHR
37 articulation disorder 9.9 TG TPO TSHR
38 neuronopathy, distal hereditary motor, type viia 9.8 SERPINA7 TG TSHR
39 adenocarcinoma 9.8
40 sertoli-leydig cell tumor 9.8
41 thyroiditis 9.8
42 virilizing ovarian tumor 9.8
43 well-differentiated fetal adenocarcinoma of the lung 9.8
44 leydig cell tumor 9.8
45 non-distal monosomy 10q 9.8 DICER1 TG TPO TSHR
46 nodular prostate 9.7 CALCA TG TPO TSHR
47 peritoneal serous papillary adenocarcinoma 9.7 CALCA TG TPO TSHR
48 tenosynovitis of foot and ankle 9.7 CALCA TG TPO TSHR
49 muscular dystrophy-dystroglycanopathy , type a, 10 9.7 CALCA TG TPO TSHR
50 peritoneal mesothelioma 9.7 CALCA TG TPO TSHR

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 by clinical synopsis from OMIM:

138800

Clinical features from OMIM:

138800

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

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal cell carcinoma 56 32 Frequent (79-30%) HP:0005584
2 ovarian neoplasm 56 32 Frequent (79-30%) HP:0100615
3 colorectal polyposis 56 32 Frequent (79-30%) HP:0200063
4 thyroid carcinoma 56 32 Very rare (<4-1%) HP:0002890
5 pilomatrixoma 56 32 Very rare (<4-1%) HP:0030434
6 multinodular goiter 56 32 Obligate (100%) HP:0005987
7 basal cell carcinoma 56 32 Frequent (79-30%) HP:0002671
8 pleuropulmonary blastoma 56 32 Frequent (79-30%) HP:0100528
9 testicular seminoma 56 32 Frequent (79-30%) HP:0100617
10 sertoli cell neoplasm 56 32 Frequent (79-30%) HP:0100619
11 alveolar rhabdomyosarcoma 56 32 Very rare (<4-1%) HP:0006779
12 cerebellar medulloblastoma 56 32 Very rare (<4-1%) HP:0007129
13 medulloepithelioma 56 32 Very rare (<4-1%) HP:0030071
14 hyperthyroidism 56 Excluded (0%)
15 papillary thyroid carcinoma 32 HP:0002895
16 euthyroid multinodular goiter 32 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:

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

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:

39
Thyroid, Ovary

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

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:

66
id 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
id 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...

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:

id Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.58 CALCA TSHB TSHR
2 positive regulation of cAMP biosynthetic process GO:0030819 9.37 CALCA TSHR
3 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.32 CALCA TSHR
4 activation of adenylate cyclase activity GO:0007190 9.26 CALCA TSHR
5 hormone-mediated signaling pathway GO:0009755 9.16 TSHB TSHR
6 hormone biosynthetic process GO:0042446 8.96 TG TPO
7 positive regulation of adenylate cyclase activity GO:0045762 8.62 CALCA TSHR

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 CALCA TG TSHB

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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