MCID: THY098
MIFTS: 31

Thyroid Ectopia

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Thyroid Ectopia

MalaCards integrated aliases for Thyroid Ectopia:

Name: Thyroid Ectopia 58

Characteristics:

Orphanet epidemiological data:

58
thyroid ectopia
Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 E03.1
UMLS via Orphanet 71 C0266283
Orphanet 58 ORPHA95712

Summaries for Thyroid Ectopia

MalaCards based summary : Thyroid Ectopia is related to hypothyroidism and athyreosis. An important gene associated with Thyroid Ectopia is PAX8 (Paired Box 8). Affiliated tissues include thyroid, adrenal gland and pituitary, and related phenotypes are constipation and hypothyroidism

Related Diseases for Thyroid Ectopia

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

(show all 18)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism 29.7 PAX8-AS1 PAX8 NKX2-5
2 athyreosis 29.4 PAX8 NKX2-5
3 congenital hypothyroidism 29.4 PAX8-AS1 PAX8 NKX2-5
4 hypothyroidism, congenital, nongoitrous, 2 29.3 PAX8-AS1 PAX8
5 myxedema 10.2
6 goiter 10.0
7 graves' disease 10.0
8 amenorrhea-galactorrhea syndrome 9.9
9 triiodothyronine receptor auxiliary protein 9.9
10 galactorrhea 9.9
11 papillary thyroid microcarcinoma 9.9
12 amenorrhea 9.9
13 thyroid gland disease 9.9
14 adenoma 9.9
15 hypoglycemia 9.9
16 dysphagia 9.9
17 thyroid malformation 9.6 PAX8 NKX2-5
18 congenital myasthenic syndrome 9.4 PAX8 NKX2-5

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
4 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
5 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
7 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
8 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
9 hypersomnia 58 31 hallmark (90%) Very frequent (99-80%) HP:0100786
10 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
11 ectopic thyroid 58 31 hallmark (90%) Very frequent (99-80%) HP:0100028
12 hypotonia 31 hallmark (90%) HP:0001252
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
14 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
15 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
16 muscular hypotonia 58 Very frequent (99-80%)
17 growth delay 58 Frequent (79-30%)
18 abnormality of the face 58 Very frequent (99-80%)
19 abnormality of the thyroid gland 58 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:

40
Thyroid, Adrenal Gland, Pituitary

Publications for Thyroid Ectopia

Articles related to Thyroid Ectopia:

(show top 50) (show all 87)
# Title Authors PMID Year
1
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
2
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. 6
20456451 2010
3
Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. 6
19948535 2010
4
Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 6
16418214 2006
5
Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity. 6
15718293 2005
6
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid. 6
15356023 2004
7
NKX2.5 mutations in patients with congenital heart disease. 6
14607454 2003
8
NKX2.5 mutations in patients with tetralogy of fallot. 6
11714651 2001
9
A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 6
11502839 2001
10
Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8. 6
11232006 2001
11
Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. 6
10903346 2000
12
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 6
10587520 1999
13
PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis. 6
9590296 1998
14
Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations. 61
32507964 2021
15
Multiple ectopic goiter in the retroperitoneum, abdominal wall, liver, and diaphragm: A case report and review of literature. 61
33344620 2020
16
Dual thyroid ectopia: A pictorial case series and review of literature. 61
33623501 2020
17
Dual Thyroid Ectopia and Heterotopic Thyroid Autotransplantation. 61
32558724 2020
18
Multimodality imaging of ectopic focus in Graves' Disease. 61
32779176 2020
19
Thyroid ectopia of the liver: An unusual diagnosis with contrast-enhanced EUS (with video). 61
31854346 2019
20
Abdominal Ectopic Thyroid Tissue: The Man From Istanbul. 61
30871393 2019
21
[Case of thyroid ectopia in the hyoid region in a young Malagasy girl]. 61
30197745 2018
22
Hemiagenesis of thyroid with dual thyroid ectopia: A rare case report. 61
29692520 2018
23
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L. 61
27016213 2018
24
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. 61
28666341 2017
25
Hybrid SPECT/CT Helps Characterization and Localization of a Dual Thyroid Ectopia. 61
28872553 2017
26
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. 61
28398607 2017
27
Diagnostic evaluation of a case of lingual thyroid ectopia. 61
27594942 2016
28
The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism. 61
26990941 2016
29
Lingual Thyroid Ectopia: Diagnostic SPECT/CT Imaging and Radioactive Iodine Treatment. 61
26864253 2016
30
Dual thyroid ectopia-role of thyroid scintigraphy and neck ultrasonography. 61
26430320 2015
31
Ectopic thyroid tissue in the adrenal gland: report of a case. 61
24997195 2015
32
Diagnostic and predictive value of ultrasound and isotope thyroid scanning, alone and in combination, in infants referred with thyroid-stimulating hormone elevation on newborn screening. 61
24412140 2014
33
A rare case of triple thyroid ectopia. 61
24741526 2014
34
Scintigraphic detection of dual ectopic thyroid tissue: experience of a Chinese tertiary hospital. 61
24748408 2014
35
Imaging of ectopic thyroid tissue and thyroglossal duct cysts. 61
24428281 2014
36
Medical management of thyroid ectopia:report of three cases. 61
24072094 2013
37
Dual thyroid ectopia with graves' disease: a case report and a review of the literature. 61
24900078 2012
38
Visible thyroid ectopia. 61
22247416 2012
39
Missed congenital hypothyroidism in an identical twin. 61
22970836 2012
40
[Crossed thyroid ectopia]. 61
21334107 2011
41
Dual thyroid ectopia: a case report. 61
21843176 2011
42
Dual ectopic thyroid with normally located thyroid: a case report. 61
21765986 2011
43
Double thyroid ectopia (with incidental papillary thyroid microcarcinoma) (2010: 8b). 61
20886341 2010
44
Images in clinical medicine. Thyroid ectopia in a boy with hypothyroidism. 61
20879884 2010
45
Morphogenesis of the thyroid gland. 61
20026174 2010
46
[Thyroid ectopia: problems in diagnosis and therapy]. 61
20646370 2010
47
Heterogeneous tissue in the thyroid fossa on ultrasound in infants with proven thyroid ectopia on isotope scan--a diagnostic trap. 61
20066409 2010
48
Concurrent lingual thyroid and undescended thyroglossal duct thyroid without orthotopic thyroid gland. 61
19650130 2009
49
Lateral cervical ectopic thyroid masses with eutopic multinodular goiter: an unusual presentation. 61
19570743 2009
50
Dual thyroid ectopia with a normally located pretracheal thyroid gland: case report and literature review. 61
17358039 2007

Variations for Thyroid Ectopia

ClinVar genetic disease variations for Thyroid Ectopia:

6 (show top 50) (show all 113)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NKX2-5 NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) SNV Pathogenic 9008 rs28936670 GRCh37: 5:172662014-172662014
GRCh38: 5:173235011-173235011
2 NKX2-5 NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) SNV Pathogenic 9018 rs137852684 GRCh37: 5:172660192-172660192
GRCh38: 5:173233189-173233189
3 NKX2-5 NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) SNV Pathogenic 9019 rs137852685 GRCh37: 5:172660065-172660065
GRCh38: 5:173233062-173233062
4 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.322C>T (p.Arg108Ter) SNV Pathogenic 13783 rs104893655 GRCh37: 2:114002071-114002071
GRCh38: 2:113244494-113244494
5 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.92G>A (p.Arg31His) SNV Pathogenic 13784 rs104893657 GRCh37: 2:114004430-114004430
GRCh38: 2:113246853-113246853
6 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.185T>G (p.Leu62Arg) SNV Pathogenic 13785 rs104893658 GRCh37: 2:114004337-114004337
GRCh38: 2:113246760-113246760
7 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr) SNV Pathogenic 13786 rs104893659 GRCh37: 2:114004352-114004352
GRCh38: 2:113246775-113246775
8 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.160A>G (p.Ser54Gly) SNV Pathogenic 13787 rs104893660 GRCh37: 2:114004362-114004362
GRCh38: 2:113246785-113246785
9 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.119A>C (p.Gln40Pro) SNV Pathogenic 13788 rs104893656 GRCh37: 2:114004403-114004403
GRCh38: 2:113246826-113246826
10 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.143C>T (p.Ser48Phe) SNV Pathogenic 13789 rs121917719 GRCh37: 2:114004379-114004379
GRCh38: 2:113246802-113246802
11 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.457_458del (p.Leu153fs) Deletion Pathogenic 915465 GRCh37: 2:114000287-114000288
GRCh38: 2:113242710-113242711
12 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) SNV Likely pathogenic 915464 GRCh37: 2:114002157-114002157
GRCh38: 2:113244580-113244580
13 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.160A>T (p.Ser54Cys) SNV Likely pathogenic 436165 rs104893660 GRCh37: 2:114004362-114004362
GRCh38: 2:113246785-113246785
14 PAX8 NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) SNV Likely pathogenic 872942 GRCh37:
GRCh38:
15 PAX8 NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) SNV Conflicting interpretations of pathogenicity 801740 rs374652916 GRCh37: 2:113993030-113993030
GRCh38: 2:113235453-113235453
16 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.441C>T (p.Cys147=) SNV Uncertain significance 892980 GRCh37: 2:114000304-114000304
GRCh38: 2:113242727-113242727
17 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.346G>A (p.Val116Ile) SNV Uncertain significance 892981 GRCh37: 2:114002047-114002047
GRCh38: 2:113244470-113244470
18 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.324A>T (p.Arg108=) SNV Uncertain significance 892982 GRCh37: 2:114002069-114002069
GRCh38: 2:113244492-113244492
19 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.280G>A (p.Asp94Asn) SNV Uncertain significance 892983 GRCh37: 2:114002113-114002113
GRCh38: 2:113244536-113244536
20 PAX8 NM_003466.4(PAX8):c.*1942C>T SNV Uncertain significance 892910 GRCh37: 2:113974168-113974168
GRCh38: 2:113216591-113216591
21 PAX8 NM_003466.4(PAX8):c.*1490G>A SNV Uncertain significance 892911 GRCh37: 2:113974620-113974620
GRCh38: 2:113217043-113217043
22 PAX8 NM_003466.4(PAX8):c.*1457G>A SNV Uncertain significance 892912 GRCh37: 2:113974653-113974653
GRCh38: 2:113217076-113217076
23 PAX8 NM_003466.4(PAX8):c.*372C>T SNV Uncertain significance 892943 GRCh37: 2:113975738-113975738
GRCh38: 2:113218161-113218161
24 PAX8 NM_003466.4(PAX8):c.*343G>A SNV Uncertain significance 892944 GRCh37: 2:113975767-113975767
GRCh38: 2:113218190-113218190
25 PAX8 NM_003466.4(PAX8):c.*290G>A SNV Uncertain significance 892945 GRCh37: 2:113975820-113975820
GRCh38: 2:113218243-113218243
26 PAX8 NM_003466.4(PAX8):c.*204C>A SNV Uncertain significance 330881 rs575199444 GRCh37: 2:113975906-113975906
GRCh38: 2:113218329-113218329
27 PAX8 NM_003466.4(PAX8):c.1267A>G (p.Ser423Gly) SNV Uncertain significance 330884 rs199844947 GRCh37: 2:113977678-113977678
GRCh38: 2:113220101-113220101
28 PAX8 NM_003466.4(PAX8):c.*845G>A SNV Uncertain significance 330873 rs536050658 GRCh37: 2:113975265-113975265
GRCh38: 2:113217688-113217688
29 PAX8 NM_003466.4(PAX8):c.*2320G>A SNV Uncertain significance 330856 rs138391311 GRCh37: 2:113973790-113973790
GRCh38: 2:113216213-113216213
30 PAX8 NM_003466.4(PAX8):c.*2033C>T SNV Uncertain significance 330862 rs531249238 GRCh37: 2:113974077-113974077
GRCh38: 2:113216500-113216500
31 PAX8 NM_003466.4(PAX8):c.*789G>A SNV Uncertain significance 330874 rs886054789 GRCh37: 2:113975321-113975321
GRCh38: 2:113217744-113217744
32 PAX8 NM_003466.4(PAX8):c.1060C>G (p.Gln354Glu) SNV Uncertain significance 330888 rs776082182 GRCh37: 2:113992998-113992998
GRCh38: 2:113235421-113235421
33 PAX8 NM_003466.4(PAX8):c.5C>T (p.Pro2Leu) SNV Uncertain significance 330896 rs886054794 GRCh37: 2:114035967-114035967
GRCh38: 2:113278390-113278390
34 PAX8 NM_003466.4(PAX8):c.*368G>C SNV Uncertain significance 330880 rs886054791 GRCh37: 2:113975742-113975742
GRCh38: 2:113218165-113218165
35 PAX8 NM_003466.4(PAX8):c.*703G>A SNV Uncertain significance 330877 rs141475261 GRCh37: 2:113975407-113975407
GRCh38: 2:113217830-113217830
36 PAX8 NM_003466.4(PAX8):c.*2312G>A SNV Uncertain significance 330857 rs886054784 GRCh37: 2:113973798-113973798
GRCh38: 2:113216221-113216221
37 PAX8 NM_003466.4(PAX8):c.*2409C>T SNV Uncertain significance 330854 rs886054782 GRCh37: 2:113973701-113973701
GRCh38: 2:113216124-113216124
38 PAX8 NM_003466.4(PAX8):c.*2192C>T SNV Uncertain significance 330860 rs886054785 GRCh37: 2:113973918-113973918
GRCh38: 2:113216341-113216341
39 PAX8 NM_003466.4(PAX8):c.*1977T>C SNV Uncertain significance 330863 rs886054786 GRCh37: 2:113974133-113974133
GRCh38: 2:113216556-113216556
40 PAX8 NM_003466.4(PAX8):c.*1765G>A SNV Uncertain significance 330866 rs144041400 GRCh37: 2:113974345-113974345
GRCh38: 2:113216768-113216768
41 PAX8 NM_003466.4(PAX8):c.1189+15G>A SNV Uncertain significance 330886 rs149585280 GRCh37: 2:113984717-113984717
GRCh38: 2:113227140-113227140
42 PAX8 NM_003466.4(PAX8):c.1275G>A (p.Leu425=) SNV Uncertain significance 330883 rs368814338 GRCh37: 2:113977670-113977670
GRCh38: 2:113220093-113220093
43 PAX8 NM_003466.4(PAX8):c.*1029G>A SNV Uncertain significance 330869 rs527418580 GRCh37: 2:113975081-113975081
GRCh38: 2:113217504-113217504
44 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.898+12G>A SNV Uncertain significance 330889 rs373810250 GRCh37: 2:113994166-113994166
GRCh38: 2:113236589-113236589
45 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.858G>T (p.Gly286=) SNV Uncertain significance 330891 rs886054793 GRCh37: 2:113994218-113994218
GRCh38: 2:113236641-113236641
46 PAX8-AS1 , PAX8 NM_003466.4(PAX8):c.297C>T (p.Asn99=) SNV Uncertain significance 330894 rs762019177 GRCh37: 2:114002096-114002096
GRCh38: 2:113244519-113244519
47 PAX8 NM_003466.4(PAX8):c.*2326A>G SNV Uncertain significance 330855 rs886054783 GRCh37: 2:113973784-113973784
GRCh38: 2:113216207-113216207
48 PAX8 NM_003466.4(PAX8):c.*764C>T SNV Uncertain significance 330875 rs886054790 GRCh37: 2:113975346-113975346
GRCh38: 2:113217769-113217769
49 PAX8 NM_003466.4(PAX8):c.*938C>G SNV Uncertain significance 330872 rs886054788 GRCh37: 2:113975172-113975172
GRCh38: 2:113217595-113217595
50 PAX8 NM_003466.4(PAX8):c.*2527A>G SNV Uncertain significance 330850 rs886054780 GRCh37: 2:113973583-113973583
GRCh38: 2:113216006-113216006

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 thyroid gland development GO:0030878 8.62 PAX8 NKX2-5

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 9.16 PAX8 NKX2-5
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.96 PAX8 NKX2-5
3 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 PAX8 NKX2-5

Sources for Thyroid Ectopia

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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