MCID: THY021
MIFTS: 21

Thyroid Malformation

Categories: Endocrine diseases

Aliases & Classifications for Thyroid Malformation

MalaCards integrated aliases for Thyroid Malformation:

Name: Thyroid Malformation 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:8433
NCIt 49 C27331
UMLS 71 C0877367

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

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:



Diseases related to Thyroid Malformation

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

Drugs & Therapeutics for Thyroid Malformation

Search Clinical Trials , NIH Clinical Center for Thyroid Malformation

Genetic Tests for Thyroid Malformation

Anatomical Context for Thyroid Malformation

MalaCards organs/tissues related to Thyroid Malformation:

40
Thyroid, Thymus, Testis, Heart

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
16957470 2006
2
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. 61
15320969 2004

Variations for Thyroid Malformation

Expression for Thyroid Malformation

Search GEO for disease gene expression data for Thyroid Malformation.

Pathways for Thyroid Malformation

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

Sources for Thyroid Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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