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 isolated cleft lip. An important gene associated with Thyroid Malformation is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways is Regulation of FZD by ubiquitination. Affiliated tissues include thyroid, and related phenotypes are growth/size/body region and cardiovascular system

Related Diseases for Thyroid Malformation

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 congenital thyroid malformation without hypothyroidism 12.2
2 isolated cleft lip 10.1 TBX10 FOXE1
3 thymus basaloid carcinoma 10.1 PAX8 NKX2-1
4 rete testis neoplasm 10.0 PAX8 NKX2-1
5 rete testis adenocarcinoma 10.0 PAX8 NKX2-1
6 conotruncal heart malformations 10.0 NKX2-6 NKX2-5
7 thymus clear cell carcinoma 10.0 PAX8 NKX2-1
8 thyroid ectopia 10.0 PAX8 NKX2-5
9 thyroid angiosarcoma 10.0 PAX8 NKX2-1
10 nasal cavity olfactory neuroblastoma 10.0 PAX8 NKX2-1
11 peritoneal serous adenocarcinoma 10.0 PAX8 NKX2-1
12 papillary serous adenocarcinoma 10.0 PAX8 NKX2-1
13 van der woude syndrome 1 9.9 TBX10 FOXE1
14 ulnar-mammary syndrome 9.9 TBX10 NKX2-5
15 benign teratoma 9.9 PAX8 NKX2-1
16 primary congenital hypothyroidism 9.9 PAX8 NKX2-1 FOXE1
17 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 PAX8 NKX2-1 FOXE1
18 hypothyroidism, congenital, nongoitrous, 2 9.8 PAX8 NKX2-1 FOXE1
19 thyroid gland follicular carcinoma 9.8 PAX8 NKX2-1 FOXE1
20 multinodular goiter 9.8 PAX8 NKX2-1 FOXE1
21 differentiated thyroid carcinoma 9.8 PAX8 NKX2-1 FOXE1
22 thyroid gland disease 9.8 PAX8 NKX2-1 FOXE1
23 thymic carcinoma 9.8 PAX8 NKX2-1
24 double outlet right ventricle 9.8 NKX2-6 NKX2-5
25 thyroid gland anaplastic carcinoma 9.8 PAX8 NKX2-1 FOXE1
26 holt-oram syndrome 9.7 TBX10 NKX2-6 NKX2-5
27 adenoma 9.7
28 thyroid gland cancer 9.7 PAX8 NKX2-1 FOXE1
29 digeorge syndrome 9.6 TBX10 NKX2-6 NKX2-5
30 follicular adenoma 9.6 PAX8 NKX2-1
31 athyreosis 9.5 PAX8 NKX2-5 NKX2-1 FOXE1
32 congenital hypothyroidism 9.5 PAX8 NKX2-5 NKX2-1 FOXE1
33 hypothyroidism 9.5 PAX8 NKX2-5 NKX2-1 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 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 FOXE1 LGR4 NKX2-1 NKX2-3 NKX2-5 NKX2-6
2 cardiovascular system MP:0005385 10.05 LGR4 NKX2-1 NKX2-3 NKX2-5 NKX2-6 PAX8
3 digestive/alimentary MP:0005381 10.02 FOXE1 LGR4 NKX2-1 NKX2-3 NKX2-5 RSPO2
4 homeostasis/metabolism MP:0005376 10.02 FOXE1 LGR4 NKX2-1 NKX2-3 NKX2-5 NKX2-6
5 endocrine/exocrine gland MP:0005379 9.98 FOXE1 LGR4 NKX2-1 NKX2-3 NKX2-5 PAX8
6 craniofacial MP:0005382 9.97 FOXE1 NKX2-3 NKX2-5 PAX8 RSPO2 TBX10
7 mortality/aging MP:0010768 9.91 FOXE1 LGR4 NKX2-1 NKX2-3 NKX2-5 NKX2-6
8 embryo MP:0005380 9.85 LGR4 NKX2-5 NKX2-6 PAX8 RSPO2
9 integument MP:0010771 9.72 FOXE1 LGR4 NKX2-5 RSPO2 TBX10
10 no phenotypic analysis MP:0003012 9.55 LGR4 NKX2-1 NKX2-5 PAX8 RSPO2
11 normal MP:0002873 9.35 NKX2-1 NKX2-5 NKX2-6 PAX8 TBX10
12 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

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

Pathways related to Thyroid Malformation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.11 RSPO2 LGR4

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 9.17 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.93 RSPO2 PAX8 NKX2-6 NKX2-5 LGR4
2 regulation of transcription by RNA polymerase II GO:0006357 9.89 TBX10 NKX2-5 NKX2-1 FOXE1
3 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 TBX10 NKX2-5 NKX2-1 FOXE1
4 negative regulation of transcription, DNA-templated GO:0045892 9.85 NKX2-5 NKX2-1 LGR4 FOXE1
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
6 positive regulation of transcription, DNA-templated GO:0045893 9.8 PAX8 NKX2-5 NKX2-1 LGR4 FOXE1
7 regulation of transcription, DNA-templated GO:0006355 9.7 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
8 anatomical structure morphogenesis GO:0009653 9.63 TBX10 PAX8 FOXE1
9 bone mineralization GO:0030282 9.58 RSPO2 LGR4
10 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.57 PAX8 NKX2-5
11 spleen development GO:0048536 9.56 NKX2-5 NKX2-3
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.52 PAX8 LGR4
13 embryonic heart tube development GO:0035050 9.51 NKX2-6 NKX2-5
14 cell differentiation GO:0030154 9.5 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 LGR4
15 pharyngeal system development GO:0060037 9.49 NKX2-6 NKX2-5
16 epithelial tube branching involved in lung morphogenesis GO:0060441 9.48 RSPO2 NKX2-1
17 ventricular cardiac muscle cell development GO:0055015 9.43 NKX2-6 NKX2-5
18 digestive tract development GO:0048565 9.43 NKX2-6 NKX2-3 LGR4
19 atrial cardiac muscle cell development GO:0055014 9.32 NKX2-6 NKX2-5
20 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 9.87 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.67 TBX10 PAX8 NKX2-6 NKX2-5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.63 TBX10 NKX2-6 NKX2-1
5 sequence-specific DNA binding GO:0043565 9.63 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 FOXE1
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.61 PAX8 NKX2-5 NKX2-1
7 transcription regulatory region DNA binding GO:0044212 9.58 PAX8 NKX2-5 NKX2-1
8 DNA-binding transcription factor activity GO:0003700 9.5 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1

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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