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MCID: THY021
MIFTS: 20

Thyroid Malformation

Categories: Endocrine diseases
Genes Tissues Related diseases Publications
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Aliases & Classifications for Thyroid Malformation

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MalaCards integrated aliases for Thyroid Malformation:

Name: Thyroid Malformation 12 15

Classifications:

MalaCards categories:
Anatomical: Endocrine diseases
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External Ids:

Disease Ontology 12 DOID:8433
NCIt 50 C27331
UMLS 71 C0877367
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Summaries for Thyroid Malformation

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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). Affiliated tissues include thyroid, and related phenotypes are cardiovascular system and craniofacial

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Related Diseases for Thyroid Malformation

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 congenital thyroid malformation without hypothyroidism 11.0
2 isolated cleft lip 10.1 TBX10 FOXE1
3 choanal atresia, posterior 10.1 TBX10 FOXE1
4 thyroid carcinoma 10.0 PAX8 NKX2-1
5 thymus basaloid carcinoma 10.0 PAX8 NKX2-1
6 thyroid angiosarcoma 10.0 PAX8 NKX2-1
7 thymus clear cell carcinoma 10.0 PAX8 NKX2-1
8 nasal cavity olfactory neuroblastoma 10.0 PAX8 NKX2-1
9 hypothyroidism, congenital, nongoitrous, 1 10.0 PAX8 FOXE1
10 peritoneal serous adenocarcinoma 10.0 PAX8 NKX2-1
11 conotruncal heart malformations 10.0 NKX2-6 NKX2-5
12 benign struma ovarii 10.0 PAX8 NKX2-1
13 papillary serous adenocarcinoma 10.0 PAX8 NKX2-1
14 thyroid gland medullary carcinoma 10.0 PAX8 NKX2-1
15 van der woude syndrome 1 9.9 TBX10 FOXE1
16 ulnar-mammary syndrome 9.9 TBX10 NKX2-5
17 thyroid ectopia 9.9 PAX8 NKX2-5
18 benign teratoma 9.9 PAX8 NKX2-1
19 thymic carcinoma 9.9 PAX8 NKX2-1
20 primary congenital hypothyroidism 9.9 PAX8 NKX2-1 FOXE1
21 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 PAX8 NKX2-1 FOXE1
22 differentiated thyroid carcinoma 9.9 PAX8 NKX2-1 FOXE1
23 thyroid gland disease 9.8 PAX8 NKX2-1 FOXE1
24 thyroid gland follicular carcinoma 9.8 PAX8 NKX2-1 FOXE1
25 thyroid gland anaplastic carcinoma 9.8 PAX8 NKX2-1 FOXE1
26 multinodular goiter 9.8 PAX8 NKX2-1
27 holt-oram syndrome 9.8 TBX10 NKX2-6 NKX2-5
28 thyroid gland cancer 9.8 PAX8 NKX2-1 FOXE1
29 goiter 9.8 PAX8 NKX2-1
30 double outlet right ventricle 9.7 NKX2-6 NKX2-5
31 digeorge syndrome 9.7 TBX10 NKX2-6 NKX2-5
32 diabetes mellitus, neonatal, with congenital hypothyroidism 9.6 PAX8 NKX2-1 HHEX FOXE1
33 athyreosis 9.6 PAX8 NKX2-5 NKX2-1 FOXE1
34 congenital hypothyroidism 9.6 PAX8 NKX2-5 NKX2-1 FOXE1
35 hypothyroidism 9.6 PAX8 NKX2-5 NKX2-1 FOXE1

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



Diseases related to Thyroid Malformation
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Symptoms & Phenotypes for Thyroid Malformation

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MGI Mouse Phenotypes related to Thyroid Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 HHEX NKX2-1 NKX2-3 NKX2-5 NKX2-6 PAX8
2 craniofacial MP:0005382 9.98 FOXE1 HHEX NKX2-3 NKX2-5 PAX8 RSPO2
3 growth/size/body region MP:0005378 9.97 FOXE1 HHEX NKX2-1 NKX2-3 NKX2-5 NKX2-6
4 endocrine/exocrine gland MP:0005379 9.91 FOXE1 HHEX NKX2-1 NKX2-3 NKX2-5 PAX8
5 homeostasis/metabolism MP:0005376 9.91 FOXE1 HHEX NKX2-1 NKX2-3 NKX2-5 NKX2-6
6 digestive/alimentary MP:0005381 9.88 FOXE1 NKX2-1 NKX2-3 NKX2-5 RSPO2 TBX10
7 mortality/aging MP:0010768 9.81 FOXE1 HHEX NKX2-1 NKX2-3 NKX2-5 NKX2-6
8 normal MP:0002873 9.35 NKX2-1 NKX2-5 NKX2-6 PAX8 TBX10
9 respiratory system MP:0005388 9.1 HHEX NKX2-1 NKX2-3 NKX2-5 NKX2-6 RSPO2
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Drugs & Therapeutics for Thyroid Malformation

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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

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MalaCards organs/tissues related to Thyroid Malformation:

40
Thyroid
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Publications for Thyroid Malformation

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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
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Variations for Thyroid Malformation

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Expression for Thyroid Malformation

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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

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.76 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
2 chromatin GO:0000785 9.23 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
3 protein-DNA complex GO:0032993 8.96 NKX2-5 HHEX

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.92 RSPO2 PAX8 NKX2-6 NKX2-5 HHEX
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 NKX2-5 NKX2-1 HHEX FOXE1
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 HHEX
4 negative regulation of transcription, DNA-templated GO:0045892 9.84 NKX2-5 NKX2-1 HHEX FOXE1
5 positive regulation of transcription, DNA-templated GO:0045893 9.8 PAX8 NKX2-5 NKX2-1 HHEX FOXE1
6 cell differentiation GO:0030154 9.8 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1 HHEX
7 regulation of transcription by RNA polymerase II GO:0006357 9.76 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
8 anatomical structure morphogenesis GO:0009653 9.63 TBX10 PAX8 FOXE1
9 B cell differentiation GO:0030183 9.58 NKX2-3 HHEX
10 positive regulation of Wnt signaling pathway GO:0030177 9.57 RSPO2 HHEX
11 spleen development GO:0048536 9.56 NKX2-5 NKX2-3
12 regulation of transcription, DNA-templated GO:0006355 9.56 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
13 digestive tract development GO:0048565 9.55 NKX2-6 NKX2-3
14 epithelial tube branching involved in lung morphogenesis GO:0060441 9.51 RSPO2 NKX2-1
15 pharyngeal system development GO:0060037 9.49 NKX2-6 NKX2-5
16 embryonic heart tube development GO:0035050 9.48 NKX2-6 NKX2-5
17 ventricular cardiac muscle cell development GO:0055015 9.43 NKX2-6 NKX2-5
18 atrial cardiac muscle cell development GO:0055014 9.32 NKX2-6 NKX2-5
19 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 9.76 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
2 sequence-specific double-stranded DNA binding GO:1990837 9.73 PAX8 NKX2-5 NKX2-3 FOXE1
3 DNA-binding transcription factor activity GO:0003700 9.73 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-1 FOXE1
4 sequence-specific DNA binding GO:0043565 9.72 PAX8 NKX2-5 NKX2-1 HHEX FOXE1
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.71 PAX8 NKX2-6 NKX2-5 HHEX
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 PAX8 NKX2-5 NKX2-1 HHEX
7 transcription factor binding GO:0008134 9.63 NKX2-5 NKX2-1 HHEX
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.23 TBX10 PAX8 NKX2-6 NKX2-5 NKX2-3 NKX2-1
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Sources for Thyroid Malformation

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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