AITD3
MCID: ATM050
MIFTS: 17

Autoimmune Thyroid Disease 3 (AITD3)

Categories: Genetic diseases

Aliases & Classifications for Autoimmune Thyroid Disease 3

MalaCards integrated aliases for Autoimmune Thyroid Disease 3:

Name: Autoimmune Thyroid Disease 3 58 76 30 6
Autoimmune Thyroid Disease, Susceptibility to, 3 58 13
Aitd3 58 76
Thyroid Disease, Autoimmune, Susceptibility to, Type 3 41

Classifications:



External Ids:

OMIM 58 608175
MedGen 43 C1842444
SNOMED-CT via HPO 70 82119001

Summaries for Autoimmune Thyroid Disease 3

UniProtKB/Swiss-Prot : 76 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, is also known as autoimmune thyroid disease, susceptibility to, 3. An important gene associated with Autoimmune Thyroid Disease 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, b cells and t cells, and related phenotype is thyroiditis.

Description from OMIM: 608175

Related Diseases for Autoimmune Thyroid Disease 3

Symptoms & Phenotypes for Autoimmune Thyroid Disease 3

Human phenotypes related to Autoimmune Thyroid Disease 3:

33
# Description HPO Frequency HPO Source Accession
1 thyroiditis 33 HP:0100646

Clinical features from OMIM:

608175

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 30 TG ZFAT

Anatomical Context for Autoimmune Thyroid Disease 3

MalaCards organs/tissues related to Autoimmune Thyroid Disease 3:

42
Thyroid, B Cells, T Cells

Publications for Autoimmune Thyroid Disease 3

Articles related to Autoimmune Thyroid Disease 3:

# Title Authors Year
1
Novel variant of thyroglobulin promoter triggers thyroid autoimmunity through an epigenetic interferon alpha-modulated mechanism. ( 21757724 )
2011
2
Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. ( 15579800 )
2004
3
SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease. ( 15294872 )
2004
4
Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. ( 14657345 )
2003
5
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. ( 11440990 )
2001

Variations for Autoimmune Thyroid Disease 3

ClinVar genetic disease variations for Autoimmune Thyroid Disease 3:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZFAT ZFAT1, IVS9, A-T single nucleotide variant risk factor
2 TG NM_003235.4(TG): c.5995C> T (p.Arg1999Trp) single nucleotide variant risk factor rs2076740 GRCh37 Chromosome 8, 133984058: 133984058
3 TG NM_003235.4(TG): c.5995C> T (p.Arg1999Trp) single nucleotide variant risk factor rs2076740 GRCh38 Chromosome 8, 132971813: 132971813
4 TG NM_003235.4(TG): c.2200T> G (p.Ser734Ala) single nucleotide variant risk factor rs180223 GRCh37 Chromosome 8, 133900252: 133900252
5 TG NM_003235.4(TG): c.2200T> G (p.Ser734Ala) single nucleotide variant risk factor rs180223 GRCh38 Chromosome 8, 132888007: 132888007
6 TG NM_003235.4(TG): c.3082A> G (p.Met1028Val) single nucleotide variant risk factor rs853326 GRCh37 Chromosome 8, 133909974: 133909974
7 TG NM_003235.4(TG): c.3082A> G (p.Met1028Val) single nucleotide variant risk factor rs853326 GRCh38 Chromosome 8, 132897729: 132897729
8 TG NM_003235.4(TG): c.-1623A> G single nucleotide variant risk factor rs180195 GRCh37 Chromosome 8, 133877623: 133877623
9 TG NM_003235.4(TG): c.-1623A> G single nucleotide variant risk factor rs180195 GRCh38 Chromosome 8, 132865378: 132865378
10 TG NM_003235.5(TG): c.229G> A (p.Gly77Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142698837 GRCh38 Chromosome 8, 132869781: 132869781
11 TG NM_003235.5(TG): c.229G> A (p.Gly77Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs142698837 GRCh37 Chromosome 8, 133882026: 133882026
12 TG NM_003235.4(TG): c.1076-1G> C single nucleotide variant Likely pathogenic rs1412480668 GRCh37 Chromosome 8, 133898692: 133898692
13 TG NM_003235.4(TG): c.1076-1G> C single nucleotide variant Likely pathogenic rs1412480668 GRCh38 Chromosome 8, 132886447: 132886447

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
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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