MCID: THY098
MIFTS: 25

Thyroid Ectopia

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Ectopia

MalaCards integrated aliases for Thyroid Ectopia:

Name: Thyroid Ectopia 59

Characteristics:

Orphanet epidemiological data:

59
thyroid ectopia
Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA95712
UMLS via Orphanet 74 C0266283
ICD10 via Orphanet 34 E03.1

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 28.8 NKX2-5 PAX8
2 hypothyroidism 28.5 NKX2-5 PAX8
3 thyroiditis 10.4
4 neonatal hypothyroidism 10.0
5 papillary thyroid microcarcinoma 9.7
6 graves' disease 9.7
7 athyreosis 9.3 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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
5 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
8 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
11 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
12 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
13 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
14 hypersomnia 59 32 hallmark (90%) Very frequent (99-80%) HP:0100786
15 ectopic thyroid 59 32 hallmark (90%) Very frequent (99-80%) HP:0100028
16 growth delay 59 Frequent (79-30%)
17 abnormality of the face 59 Very frequent (99-80%)
18 abnormality of the thyroid gland 59 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:

41
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
Diagnostic evaluation of a case of lingual thyroid ectopia. ( 27594942 )
2016
4
Lingual Thyroid Ectopia: Diagnostic SPECT/CT Imaging and Radioactive Iodine Treatment. ( 26864253 )
2016
5
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. ( 26990941 )
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
Images in clinical medicine. Thyroid ectopia in a boy with hypothyroidism. ( 20879884 )
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
Double thyroid ectopia (with incidental papillary thyroid microcarcinoma) (2010: 8b). ( 20886341 )
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 transcription by RNA polymerase II GO:0006366 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 sequence-specific DNA binding GO:0043565 9.26 NKX2-5 PAX8
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.16 NKX2-5 PAX8
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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