AITD3
MCID: ATM050
MIFTS: 21

Autoimmune Thyroid Disease 3 (AITD3)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Autoimmune Thyroid Disease 3

MalaCards integrated aliases for Autoimmune Thyroid Disease 3:

Name: Autoimmune Thyroid Disease 3 57 72 29 6
Autoimmune Thyroid Disease, Susceptibility to, 3 57 13
Aitd3 57 72
Thyroid Disease, Autoimmune, Susceptibility to, Type 3 39

Classifications:



External Ids:

OMIM® 57 608175
MedGen 41 C1842444
SNOMED-CT via HPO 68 82119001

Summaries for Autoimmune Thyroid Disease 3

UniProtKB/Swiss-Prot : 72 Autoimmune thyroid disease 3: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism.

MalaCards based summary : Autoimmune Thyroid Disease 3, also known as autoimmune thyroid disease, susceptibility to, 3, is related to suppurative thyroiditis. An important gene associated with Autoimmune Thyroid Disease 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, t cells and b cells, and related phenotype is thyroiditis.

More information from OMIM: 608175

Related Diseases for Autoimmune Thyroid Disease 3

Diseases in the Rare Thyroid Disease family:

Autoimmune Thyroid Disease 1 Autoimmune Thyroid Disease 2
Autoimmune Thyroid Disease 3 Autoimmune Thyroid Disease 4

Diseases related to Autoimmune Thyroid Disease 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 suppurative thyroiditis 9.5 ZFAT TG

Symptoms & Phenotypes for Autoimmune Thyroid Disease 3

Human phenotypes related to Autoimmune Thyroid Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 thyroiditis 31 HP:0100646

Clinical features from OMIM®:

608175 (Updated 05-Apr-2021)

Drugs & Therapeutics for Autoimmune Thyroid Disease 3

Search Clinical Trials , NIH Clinical Center for Autoimmune Thyroid Disease 3

Genetic Tests for Autoimmune Thyroid Disease 3

Genetic tests related to Autoimmune Thyroid Disease 3:

# Genetic test Affiliating Genes
1 Autoimmune Thyroid Disease 3 29 TG ZFAT

Anatomical Context for Autoimmune Thyroid Disease 3

MalaCards organs/tissues related to Autoimmune Thyroid Disease 3:

40
Thyroid, T Cells, B Cells

Publications for Autoimmune Thyroid Disease 3

Articles related to Autoimmune Thyroid Disease 3:

# Title Authors PMID Year
1
Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. 57 6
15579800 2004
2
SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease. 57 6
15294872 2004
3
Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. 6 57
14657345 2003
4
Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. 6 57
11440990 2001
5
Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. 6
28942902 2018
6
Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism. 6
21757724 2011
7
Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families. 57
12973666 2003
8
Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease. 57
14557492 2003
9
Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. 57
11788684 2002
10
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 57
10599734 1999

Variations for Autoimmune Thyroid Disease 3

ClinVar genetic disease variations for Autoimmune Thyroid Disease 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TG NM_003235.5(TG):c.6725G>A (p.Arg2242His) SNV Pathogenic 12700 rs2069566 GRCh37: 8:134030185-134030185
GRCh38: 8:133017940-133017940
2 ZFAT ZFAT1, IVS9, A-T SNV risk factor 1084 GRCh37:
GRCh38:
3 TG NM_003235.4(TG):c.-1623A>G SNV risk factor 29906 rs180195 GRCh37: 8:133877623-133877623
GRCh38: 8:132865378-132865378
4 TG NM_003235.5(TG):c.1076-1G>C SNV Likely pathogenic 548681 rs1412480668 GRCh37: 8:133898692-133898692
GRCh38: 8:132886447-132886447
5 TG NM_003235.5(TG):c.5995C>T (p.Arg1999Trp) SNV risk factor 12696 rs2076740 GRCh37: 8:133984058-133984058
GRCh38: 8:132971813-132971813
6 TG NM_003235.5(TG):c.2200T>G (p.Ser734Ala) SNV risk factor 12697 rs180223 GRCh37: 8:133900252-133900252
GRCh38: 8:132888007-132888007
7 TG NM_003235.5(TG):c.3082A>G (p.Met1028Val) SNV risk factor 12698 rs853326 GRCh37: 8:133909974-133909974
GRCh38: 8:132897729-132897729
8 TG NM_003235.5(TG):c.229G>A (p.Gly77Ser) SNV Uncertain significance 436996 rs142698837 GRCh37: 8:133882026-133882026
GRCh38: 8:132869781-132869781

Expression for Autoimmune Thyroid Disease 3

Search GEO for disease gene expression data for Autoimmune Thyroid Disease 3.

Pathways for Autoimmune Thyroid Disease 3

GO Terms for Autoimmune Thyroid Disease 3

Sources for Autoimmune Thyroid Disease 3

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