MCID: GTR011
MIFTS: 38

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

Categories: Genetic diseases, Endocrine diseases, Rare diseases, Metabolic diseases

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

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

Name: Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 51 12
Endemic Goiter 11 49 13 67
Goiter Multinodular 1, with or Without Sertoli-Leydig Cell Tumors 69 26
Goiter Euthyroid 49 67
Euthyroid Goiter 69 67
Simple Goiter 11 69
Goiter Non-Toxic with Intrathyroidal Calcification 69
Goiter Nontoxic with Intrathyroidal Calcification 69
Iodine-Deficiency-Related Goiter, Unspecified 11
Iodine-Deficiency-Related Goitre, Unspecified 11
 
Iodine-Deficiency-Related Endemic Goiter 11
Iodine-Deficiency-Related Endemic Goitre 11
Multinodular Goiter Adolescent 69
Familial Multinodular Goiter 53
Goiter, Specified As Simple 11
Goiter, Endemic 38
Simple Goitre 11
Familial Mng 53
Mng1 69
Fmng 53

Characteristics:

Orphanet epidemiological data:

53
familial multinodular goiter:
Inheritance: Autosomal dominant; Age of onset: Adolescent

HPO:

63
goiter, multinodular 1, with or without sertoli-leydig cell tumors:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 138800
Disease Ontology11 DOID:13198
ICD1029 E01.0, E01.2
ICD9CM31 240.0
NCIt44 C35023
Orphanet53 ORPHA276399
ICD10 via Orphanet30 E04.2

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

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OMIM:51 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 endemic goiter, is related to acute thyroiditis and pendred syndrome, and has symptoms including Array, Array and Array. 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 are Amine-derived hormones and Thyroxine (Thyroid Hormone) Production. Affiliated tissues include thyroid and ovary.

UniProtKB/Swiss-Prot:69 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...

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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 73)
idRelated DiseaseScoreTop Affiliating Genes
1acute thyroiditis29.8CALCA, TG
2pendred syndrome11.2
3thyroid cancer, nonmedullary, 411.1
4nontoxic goiter11.0
5goiter10.9
6thyroiditis10.6
7iatrogenic or traumatic pituitary deficiency10.3TG, TPO
8ovarian endometrioid cystadenoma10.3TG, TPO
9peripheral scars of retina10.3TG, TPO
10demyelinating polyneuropathy10.3TG, TSHR
11malignant syringoma10.3TG, TSHR
12acquired central diabetes insipidus10.3TG, TSHR
13deep angioma10.3CALCA, TG
14benign mesothelioma10.2TG, TSHR
15pleomorphic adenoma10.2CALCA, TG
16chronic frontal sinusitis10.2TG, TPO
17mixed endometrial stromal and smooth muscle tumor10.2CALCA, TG
18tinea corporis10.2SERPINA7, TG
19norwegian scabies10.2CALCA, TG
20hypocomplementemic urticarial vasculitis syndrome10.1CALCA, TG
21glaucomatocyclitic crisis10.1TG, TSHR
22bone lymphoma10.1CALCA, TG
23rhabdomyosarcoma, embryonal, 210.1DICER1, TG, TPO
24dysautonomia, familial10.1TG, TPO
25lung occult adenocarcinoma10.1SERPINA7, TG
26thyroid cancer10.0
27deafness, autosomal recessive 4, with enlarged vestibular aqueduct10.0TG, TPO
28hypothyroidism10.0
29meckel's diverticulum10.0CALCA, TPO
30crohn's disease of the esophagus10.0TG, TPO, TSHR
31blood group incompatibility10.0TG, TPO, TSHR
32intermittent proptosis9.9TG, TPO, TSHR
33medullary thyroid carcinoma, familial9.9CALCA, TG
34malignant mediastinum hemangiopericytoma9.9CALCA, TG, TPO
35hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia9.9SERPINA7, TG, TSHR
36presbyopia9.9SERPINA7, TG, TSHR
37substernal goiter9.9CALCA, TG, TSHR
38richter's syndrome9.9CALCA, TG, TSHR
39dysgraphia9.9CALCA, TG
40cerebral lipidosis9.8CALCA, SERPINA7, TG
41multinodular goiter9.8
42hyperparathyroidism9.8
43cerebritis9.8
44atrial standstill9.7DICER1, TG, TPO, TSHR
45lipoma of the rectum9.7CALCA, TG
46hypothryoidism, congenital, nongoitrous 49.7TG, TPO, TSHB
47insulin-like growth factor i9.7
48angiosarcoma9.7
49tracheomalacia9.7
50tonsillitis9.7

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

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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:

 53 63 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multinodular goiter53 Obligate (100%)
2 basal cell carcinoma53 Frequent (79-30%)
3 renal cell carcinoma53 Frequent (79-30%)
4 pleuropulmonary blastoma53 Frequent (79-30%)
5 ovarian neoplasm53 Frequent (79-30%)
6 testicular seminoma53 Frequent (79-30%)
7 sertoli cell neoplasm53 Frequent (79-30%)
8 colorectal polyposis53 Frequent (79-30%)
9 thyroid carcinoma53 Very rare (<4-1%)
10 alveolar rhabdomyosarcoma53 Very rare (<4-1%)
11 cerebellar medulloblastoma53 Very rare (<4-1%)
12 medulloepithelioma53 Very rare (<4-1%)
13 pilomatrixoma53 Very rare (<4-1%)
14 hyperthyroidism53 Excluded (0%)
15 euthyroid multinodular goiter63 HP:0000866
16 papillary thyroid carcinoma63 HP:0002895

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

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Interventional clinical trials:

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


Cochrane evidence based reviews: goiter, endemic

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

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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 Tumors26

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

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

35
Thyroid, Ovary

Animal Models for Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell... or affiliated genes

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

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

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

69
id Symbol AA change Variation ID SNP ID
1DICER1p.Ser839PheVAR_065301rs387906934

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1DICER1DICER1, SER1826TERSNVPathogenicChr na, -1: -1
2DICER1DICER1, 4-BP DEL, 871AAAGdeletionPathogenicChr na, -1: -1
3DICER1DICER1, IVS17AS, G-T, -1SNVPathogenicChr na, -1: -1
4DICER1DICER1, 2457C-GSNVPathogenicChr na, -1: -1
5DICER1NM_177438.2(DICER1): c.2516C> T (p.Ser839Phe)SNVPathogenicrs387906934GRCh37Chr 14, 95574351: 95574351

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

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

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

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

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

idNameGO IDScoreTop Affiliating Genes
1hormone biosynthetic processGO:00424469.8TG, TPO
2thyroid hormone generationGO:00065909.8TG, TPO
3activation of adenylate cyclase activityGO:00071909.5CALCA, TSHR
4adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.2CALCA, TSHR

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051798.8CALCA, TG, TSHB

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet