Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Disorders of thyroid gland

Other nontoxic goitre

Nontoxic multinodular goitre

Orphanet: ⁵⁹

Rare endocrine diseases

External Ids:

OMIM ⁵⁷ 138800

Orphanet ⁵⁹ ORPHA276399

ICD10 via Orphanet ³⁴ E04.2

MedGen ⁴² C0302859 C0018022 C3165522

MeSH ⁴⁴ D006044

UMLS ⁷³ C0302859 C0749448

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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.

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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:

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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

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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

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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

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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

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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 )	Ordooei M....Masoumi Dehshiri R.	2014
2	Quality of life after thyroid surgery in women with benign euthyroid goiter: influencing factors including Hashimoto's thyroiditis. ( 24070662 )	Promberger R....Ott J.	2013
3	Euthyroid goiter with and without nodules--diagnosis and treatment. ( 23008749 )	FA1hrer D....Schmid K.W.	2012
4	Fetal euthyroid goiter. ( 20108061 )	Jain V....Agarwal R.	2009
5	[Triiodothyroacetic acid in euthyroid goiter. New data on its mechanisms of action. Comparison with L-thyroxin]. ( 18666468 )	Pisarev M.A....Kleiman de Pisarev D.L.	2007
6	Comparative efficacy and side effects of the treatment of euthyroid goiter with levo-thyroxine or triiodothyroacetic acid. ( 14602763 )	Brenta G....Pisarev M.A.	2003
7	[Recurrence of poly-nodular euthyroid goiter]. ( 11944240 )	Saidova F.K.h.	2001
8	[Total thyroidectomy in surgical treatment of euthyroid goiter]. ( 10736991 )	Cossu M.L....Noya G.	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 )	Neumann S....Paschke R.	1999
10	[Euthyroid goiter in puberty--a harmless illness?]. ( 8901187 )	RAPnnefarth G....Forberger M.	1996
11	Effect of posture on the flow-volume loop in two patients with euthyroid goiter. ( 8989088 )	Meysman M....Vincken W.	1996
12	Association of thyroid-stimulating immunoglobulins and thyrotropin-releasing hormone responsiveness in women with euthyroid goiter. ( 6137491 )	Smyth P.P....O'Donovan D.K.	1983
13	[Thyroid tissue link of hemostasis in diffuse toxic and euthyroid goiter]. ( 582337 )	Kirichuk V.F.	1979
14	Scanning electron microscopy of euthyroid goiter and Graves's disease. ( 142911 )	TaA9cA8 C....Miron P.	1977
15	[Cell-mediated immune-phenomenona in hyperthyroidism and euthyroid goiter (studies using the lymphocyte transformation test)]. ( 1224737 )	Hein G....JAoger L.	1975

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

Genes related to Goiter, Multinodular 1, with or Without Sertoli-Leydig Cell Tumors (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DICER1	Dicer 1, Ribonuclease III	Protein Coding	1354.72	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Susceptibility factor ⁵⁹ GeneCards inferred via : Disorders Variants (show sections)	21036787 24761742 21205968 (more) 6261577 9295070 18570301 9345104
2	KEAP1	Kelch Like ECH Associated Protein 1	Protein Coding	350	Causative germline mutation ⁵⁹
3	TG	Thyroglobulin	Protein Coding	16.82	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	12444888 14564411 16720658
4	TPO	Thyroid Peroxidase	Protein Coding	16.46	Novoseek inferred ⁵⁵ GeneCards inferred via : Novoseek inferred (show sections)	10523025

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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

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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.

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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	Translational Control ⁴	11.24	DICER1 KEAP1
2	Thyroxine (Thyroid Hormone) Production ¹	9.4	TG TPO

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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

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