MCID: THY098
MIFTS: 24

Thyroid Ectopia

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Ectopia

MalaCards integrated aliases for Thyroid Ectopia:

Name: Thyroid Ectopia 60

Characteristics:

Orphanet epidemiological data:

60
thyroid ectopia
Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 35 E03.1
UMLS via Orphanet 75 C0266283
Orphanet 60 ORPHA95712

Summaries for Thyroid Ectopia

MalaCards based summary : Thyroid Ectopia is related to congenital hypothyroidism and hypothyroidism. An important gene associated with Thyroid Ectopia is PAX8 (Paired Box 8). Affiliated tissues include thyroid, and related phenotypes are hypothyroidism and muscular hypotonia

Related Diseases for Thyroid Ectopia

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

# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 29.4 NKX2-5 PAX8
2 hypothyroidism 29.4 NKX2-5 PAX8
3 papillary thyroid microcarcinoma 9.9
4 graves' disease 9.9
5 athyreosis 9.7 NKX2-5 PAX8

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



Diseases related to Thyroid Ectopia

Symptoms & Phenotypes for Thyroid Ectopia

Human phenotypes related to Thyroid Ectopia:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
4 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
5 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
7 umbilical hernia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001537
8 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
9 large fontanelles 60 33 hallmark (90%) Very frequent (99-80%) HP:0000239
10 abdominal distention 60 33 hallmark (90%) Very frequent (99-80%) HP:0003270
11 hypersomnia 60 33 hallmark (90%) Very frequent (99-80%) HP:0100786
12 ectopic thyroid 60 33 hallmark (90%) Very frequent (99-80%) HP:0100028
13 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
14 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
15 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
16 growth delay 60 Frequent (79-30%)
17 abnormality of the face 60 Very frequent (99-80%)
18 abnormality of the thyroid gland 60 Very frequent (99-80%)

Drugs & Therapeutics for Thyroid Ectopia

Search Clinical Trials , NIH Clinical Center for Thyroid Ectopia

Genetic Tests for Thyroid Ectopia

Anatomical Context for Thyroid Ectopia

MalaCards organs/tissues related to Thyroid Ectopia:

42
Thyroid

Publications for Thyroid Ectopia

Articles related to Thyroid Ectopia:

(show all 19)
# Title Authors Year
1
Hemiagenesis of thyroid with dual thyroid ectopia: A rare case report. ( 29692520 )
2018
2
Hybrid SPECT/CT Helps Characterization and Localization of a Dual Thyroid Ectopia. ( 28872553 )
2017
3
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. ( 26990941 )
2016
4
Lingual Thyroid Ectopia: Diagnostic SPECT/CT Imaging and Radioactive Iodine Treatment. ( 26864253 )
2016
5
Diagnostic evaluation of a case of lingual thyroid ectopia. ( 27594942 )
2016
6
Dual thyroid ectopia-role of thyroid scintigraphy and neck ultrasonography. ( 26430320 )
2015
7
A rare case of triple thyroid ectopia. ( 24741526 )
2014
8
Medical management of thyroid ectopia:report of three cases. ( 24072094 )
2013
9
Dual thyroid ectopia with graves' disease: a case report and a review of the literature. ( 24900078 )
2012
10
Visible thyroid ectopia. ( 22247416 )
2012
11
Dual thyroid ectopia: a case report. ( 21843176 )
2011
12
Double thyroid ectopia (with incidental papillary thyroid microcarcinoma) (2010: 8b). ( 20886341 )
2010
13
Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan--a diagnostic trap. ( 20066409 )
2010
14
Images in clinical medicine. Thyroid ectopia in a boy with hypothyroidism. ( 20879884 )
2010
15
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. ( 17218725 )
2007
16
Dual thyroid ectopia with a normally located pretracheal thyroid gland: case report and literature review. ( 17358039 )
2007
17
Dual thyroid ectopia. ( 12973493 )
2003
18
Case report: lateral thyroid ectopia--CT and MRI findings. ( 9135477 )
1996
19
Thyroid ectopia in a congenital hypothyroid infant. ( 3742922 )
1986

Variations for Thyroid Ectopia

Expression for Thyroid Ectopia

Search GEO for disease gene expression data for Thyroid Ectopia.

Pathways for Thyroid Ectopia

GO Terms for Thyroid Ectopia

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

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.26 NKX2-5 PAX8
2 positive regulation of transcription, DNA-templated GO:0045893 9.16 NKX2-5 PAX8
3 negative regulation of cardiac muscle cell apoptotic process GO:0010667 8.96 NKX2-5 PAX8
4 thyroid gland development GO:0030878 8.62 NKX2-5 PAX8

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.26 NKX2-5 PAX8
2 sequence-specific DNA binding GO:0043565 9.16 NKX2-5 PAX8
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 8.96 NKX2-5 PAX8
4 transcription regulatory region DNA binding GO:0044212 8.62 NKX2-5 PAX8

Sources for Thyroid Ectopia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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