AITD3
MCID: ATM050
MIFTS: 15

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 57 75 29 6
Autoimmune Thyroid Disease, Susceptibility to, 3 57 13
Aitd3 57 75
Thyroid Disease, Autoimmune, Susceptibility to, Type 3 40

Classifications:



External Ids:

OMIM 57 608175
MedGen 42 C1842444
SNOMED-CT via HPO 69 82119001

Summaries for Autoimmune Thyroid Disease 3

UniProtKB/Swiss-Prot : 75 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, t cells and b cells, and related phenotype is thyroiditis.

Description from OMIM: 608175

Related Diseases for Autoimmune Thyroid Disease 3

Symptoms & Phenotypes for Autoimmune Thyroid Disease 3

Clinical features from OMIM:

608175

Human phenotypes related to Autoimmune Thyroid Disease 3:

32
# Description HPO Frequency HPO Source Accession
1 thyroiditis 32 HP:0100646

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:

41
Thyroid, T Cells, B Cells

Publications for Autoimmune Thyroid Disease 3

Variations for Autoimmune Thyroid Disease 3

ClinVar genetic disease variations for Autoimmune Thyroid Disease 3:

6 (show all 11)
# 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_003235.4(TG): c.1076-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 133898692: 133898692
11 TG NM_003235.4(TG): c.1076-1G> C single nucleotide variant Likely pathogenic 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 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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