Thyroid Malformation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Thyroid Malformation

MalaCards integrated aliases for Thyroid Malformation:

Name: Thyroid Malformation ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8433

NCIt ⁴⁹ C27331

UMLS ⁷¹ C0877367

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Summaries for Thyroid Malformation

MalaCards based summary : Thyroid Malformation is related to congenital thyroid malformation without hypothyroidism and diabetes mellitus, neonatal, with congenital hypothyroidism. An important gene associated with Thyroid Malformation is FOXE1 (Forkhead Box E1). Affiliated tissues include thyroid, thymus and testis, and related phenotypes are cardiovascular system and digestive/alimentary

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Related Diseases for Thyroid Malformation

Diseases related to Thyroid Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)

#	Related Disease	Score	Top Affiliating Genes
1	congenital thyroid malformation without hypothyroidism	12.2
2	diabetes mellitus, neonatal, with congenital hypothyroidism	10.2	IYD FOXE1
3	hypothyroidism, congenital, nongoitrous, 1	10.1	IYD FOXE1
4	conotruncal heart malformations	10.1	NKX2-6 NKX2-5
5	holt-oram syndrome	10.0	NKX2-6 NKX2-5
6	double outlet right ventricle	9.9	NKX2-6 NKX2-5
7	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	9.9	SLC26A4 IYD FOXE1
8	thyroid ectopia	9.8	PAX8 NKX2-5
9	thymus basaloid carcinoma	9.7	PAX8 NKX2-1
10	rete testis neoplasm	9.7	PAX8 NKX2-1
11	rete testis adenocarcinoma	9.7	PAX8 NKX2-1
12	wolff-parkinson-white syndrome	9.7	SLC26A4 NKX2-5
13	thymus clear cell carcinoma	9.7	PAX8 NKX2-1
14	thyroid angiosarcoma	9.7	PAX8 NKX2-1
15	nasal cavity olfactory neuroblastoma	9.7	PAX8 NKX2-1
16	benign struma ovarii	9.7	PAX8 NKX2-1
17	adenoma	9.7
18	thyroid gland anaplastic carcinoma	9.7	PAX8 NKX2-1
19	papillary serous adenocarcinoma	9.6	PAX8 NKX2-1
20	thyroid gland follicular carcinoma	9.6	PAX8 NKX2-1
21	thymic carcinoma	9.6	PAX8 NKX2-1
22	primary congenital hypothyroidism	9.5	PAX8 NKX2-1 FOXE1
23	differentiated thyroid carcinoma	9.5	PAX8 NKX2-1 FOXE1
24	pendred syndrome	9.4	SLC26A4 PAX8 IYD
25	multinodular goiter	9.3	SLC26A4 PAX8 NKX2-1
26	follicular adenoma	9.3	SLC26A4 PAX8 NKX2-1
27	thyroid gland papillary carcinoma	9.2	PAX8 NKX2-1
28	hypothyroidism, congenital, nongoitrous, 2	9.1	SLC26A4 PAX8 NKX2-1 FOXE1
29	thyroid gland disease	9.1	SLC26A4 PAX8 NKX2-1 FOXE1
30	goiter	9.1	SLC26A4 PAX8 NKX2-1 IYD
31	thyroid gland cancer	9.0	SLC26A4 PAX8 NKX2-1 FOXE1
32	athyreosis	8.8	SLC26A4 PAX8 NKX2-5 NKX2-1 FOXE1
33	congenital hypothyroidism	8.5	SLC26A4 PAX8 NKX2-5 NKX2-1 IYD FOXE1
34	hypothyroidism	8.5	SLC26A4 PAX8 NKX2-5 NKX2-1 IYD FOXE1

Graphical network of the top 20 diseases related to Thyroid Malformation:

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Symptoms & Phenotypes for Thyroid Malformation

MGI Mouse Phenotypes related to Thyroid Malformation:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.88	NKX2-1 NKX2-3 NKX2-5 NKX2-6 PAX8 RSPO2
2	digestive/alimentary	MP:0005381	9.8	FOXE1 NKX2-1 NKX2-3 NKX2-5 RSPO2 SLC26A4
3	endocrine/exocrine gland	MP:0005379	9.8	FOXE1 NKX2-1 NKX2-3 NKX2-5 PAX8 RSPO2
4	craniofacial	MP:0005382	9.77	FOXE1 NKX2-3 NKX2-5 PAX8 RSPO2
5	growth/size/body region	MP:0005378	9.7	FOXE1 NKX2-1 NKX2-3 NKX2-5 NKX2-6 PAX8
6	homeostasis/metabolism	MP:0005376	9.56	FOXE1 NKX2-1 NKX2-3 NKX2-5 NKX2-6 PAX8
7	respiratory system	MP:0005388	9.02	NKX2-1 NKX2-3 NKX2-5 NKX2-6 RSPO2

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Drugs & Therapeutics for Thyroid Malformation

Search Clinical Trials , NIH Clinical Center for Thyroid Malformation

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Genetic Tests for Thyroid Malformation

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Anatomical Context for Thyroid Malformation

MalaCards organs/tissues related to Thyroid Malformation:

⁴⁰

Thyroid, Thymus, Testis, Heart

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Publications for Thyroid Malformation

Articles related to Thyroid Malformation:

#	Title	Authors	PMID	Year
1	Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome? ⁶¹	Maegawa GH...McNamara PJ	16957470	2006
2	Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. ⁶¹	Tonacchera M...Pinchera A	15320969	2004

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Genes for Thyroid Malformation

Genes related to Thyroid Malformation (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FOXE1	Forkhead Box E1	Protein Coding	7.05	DISEASES inferred ¹⁵
2	NKX2-6	NK2 Homeobox 6	Protein Coding	6.63	DISEASES inferred ¹⁵
3	IYD	Iodotyrosine Deiodinase	Protein Coding	6.51	DISEASES inferred ¹⁵
4	NKX2-5	NK2 Homeobox 5	Protein Coding	6.09	DISEASES inferred ¹⁵
5	NKX2-3	NK2 Homeobox 3	Protein Coding	5.81	DISEASES inferred ¹⁵
6	NKX2-1	NK2 Homeobox 1	Protein Coding	5.8	DISEASES inferred ¹⁵
7	RSPO2	R-Spondin 2	Protein Coding	5.61	DISEASES inferred ¹⁵
8	PAX8	Paired Box 8	Protein Coding	5.6	DISEASES inferred ¹⁵
9	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	5.5	DISEASES inferred ¹⁵

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Variations for Thyroid Malformation

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Expression for Thyroid Malformation

Search GEO for disease gene expression data for Thyroid Malformation.

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Pathways for Thyroid Malformation

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GO Terms for Thyroid Malformation

Cellular components related to Thyroid Malformation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	9.1	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1

Biological processes related to Thyroid Malformation according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	multicellular organism development	GO:0007275	9.85	RSPO2 PAX8 NKX2-6 NKX2-5
2	positive regulation of transcription by RNA polymerase II	GO:0045944	9.85	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
3	positive regulation of transcription, DNA-templated	GO:0045893	9.8	PAX8 NKX2-5 NKX2-1 FOXE1
4	regulation of transcription, DNA-templated	GO:0006355	9.73	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
5	negative regulation of cardiac muscle cell apoptotic process	GO:0010667	9.54	PAX8 NKX2-5
6	digestive tract development	GO:0048565	9.52	NKX2-6 NKX2-3
7	spleen development	GO:0048536	9.51	NKX2-5 NKX2-3
8	embryonic heart tube development	GO:0035050	9.48	NKX2-6 NKX2-5
9	pharyngeal system development	GO:0060037	9.43	NKX2-6 NKX2-5
10	cell differentiation	GO:0030154	9.43	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
11	epithelial tube branching involved in lung morphogenesis	GO:0060441	9.4	RSPO2 NKX2-1
12	thyroid hormone generation	GO:0006590	9.37	IYD FOXE1
13	ventricular cardiac muscle cell development	GO:0055015	9.32	NKX2-6 NKX2-5
14	atrial cardiac muscle cell development	GO:0055014	9.16	NKX2-6 NKX2-5
15	thyroid gland development	GO:0030878	8.92	PAX8 NKX2-5 NKX2-1 FOXE1

Molecular functions related to Thyroid Malformation according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA binding	GO:0003677	9.8	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.65	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.63	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
4	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.58	PAX8 NKX2-6 NKX2-5
5	transcription regulatory region DNA binding	GO:0044212	9.54	PAX8 NKX2-5 NKX2-1
6	DNA-binding transcription factor activity	GO:0003700	9.43	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
7	sequence-specific DNA binding	GO:0043565	9.1	PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1

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Sources for Thyroid Malformation

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⁷⁴ Wikipedia