HT
MCID: HSH003
MIFTS: 63

Hashimoto Thyroiditis (HT)

Categories: Endocrine diseases, Immune diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hashimoto Thyroiditis

MalaCards integrated aliases for Hashimoto Thyroiditis:

Name: Hashimoto Thyroiditis 57 12 25 37 29 13 6 40
Autoimmune Thyroiditis 12 53 25 15 72 33
Hashimoto's Thyroiditis 12 75 53 15 17
Chronic Lymphocytic Thyroiditis 12 53 25
Hashimoto's Disease 12 53 25
Hashimoto Struma 57 75 25
Lymphocytic Thyroiditis 12 25
Hashimoto's Syndrome 12 53
Hashimoto Disease 25 72
Ht 57 17
Autoimmune Chronic Lymphocytic Thyroiditis 25
Hashimoto Thyroiditis, Susceptibility to 6
Chronic Lymphocytic Thyroiditides 25
Hypothyroidism, Autoimmune 57
Thyroiditis, Autoimmune 44
Hashimotos Thyroiditis 55
Thyroiditis, Chronic 53
Thyroiditis Chronic 55
Hashimoto's Struma 53
Hashimoto Syndrome 25

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hashimoto thyroiditis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:7188
OMIM 57 140300
KEGG 37 H00081
MeSH 44 D013967
NCIt 50 C38766
SNOMED-CT 68 21983002 66944004
ICD10 33 E06.2 E06.3
MedGen 42 C0677607
UMLS 72 C0677607 C0920350

Summaries for Hashimoto Thyroiditis

Genetics Home Reference : 25 Hashimoto thyroiditis is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones. One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. As damage to the thyroid continues, the gland can shrink over a period of years and the goiter may eventually disappear. Other signs and symptoms resulting from an underactive thyroid can include excessive tiredness (fatigue), weight gain or difficulty losing weight, hair that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. People with this condition may also have a pale, puffy face and feel cold even when others around them are warm. Affected women can have heavy or irregular menstrual periods and difficulty conceiving a child (impaired fertility). Difficulty concentrating and depression can also be signs of a shortage of thyroid hormones. Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur earlier or later in life. Its signs and symptoms tend to develop gradually over months or years.

MalaCards based summary : Hashimoto Thyroiditis, also known as autoimmune thyroiditis, is related to subacute lymphocytic thyroiditis and autoimmune addison disease. An important gene associated with Hashimoto Thyroiditis is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4), and among its related pathways/superpathways are Autoimmune thyroid disease and Aldosterone synthesis and secretion. The drugs Orange and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include thyroid gland, thyroid and t cells, and related phenotypes are hashimoto thyroiditis and autoimmune antibody positivity

Disease Ontology : 12 An autoimmune disease of endocrine system that involves inflammation located in thyroid gland caused by the immune system reacting against its own tissues.

NIH Rare Diseases : 53 Hashimoto's syndrome is an autoimmune disease in which a person's immune system mistakenly attacks the thyroid gland, reducing its ability to produce hormones (hypothyroidism). Many people with Hashimoto's syndrome have no symptoms at first. An early sign of the syndrome may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Women with Hashimoto's syndrome may have irregular menstrual periods or difficulty becoming pregnant. Hashimoto's syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. Like most autoimmune diseases, Hashimoto's syndrome is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.

KEGG : 37
Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired thyroid hormone production and clinical hypothyroidism, a condition that involves a marked reduction of metabolic activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease.

Wikipedia : 75 Hashimoto's thyroiditis, also known as chronic lymphocytic thyroiditis and Hashimoto's disease, is an... more...

More information from OMIM: 140300

Related Diseases for Hashimoto Thyroiditis

Diseases related to Hashimoto Thyroiditis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1029)
# Related Disease Score Top Affiliating Genes
1 subacute lymphocytic thyroiditis 35.4 TPO TG
2 autoimmune addison disease 32.6 CTLA4 AIRE
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.4 IL4 IFNG AIRE
4 hyperthyroidism 31.4 TSHR TPO TG CTLA4
5 graves disease 1 31.4 TSHR TPO TG
6 hashimoto encephalopathy 31.3 TSHR TPO
7 acute thyroiditis 31.2 TG CALCA
8 subacute thyroiditis 31.1 TSHR TPO TG
9 thyroiditis 31.1 TSHR TSHB TPO TG RET PTPN22
10 celiac disease 1 31.1 TPO TG PTPN22 CTLA4
11 lymphopenia 31.1 IFNG FASLG FAS
12 plummer's disease 31.1 TPO TG ICAM1
13 struma ovarii 31.1 TSHR TG RET
14 suppurative thyroiditis 31.1 TG CALCA
15 endemic goiter 31.1 TSHR TSHB TPO TG
16 hypothyroidism, congenital, nongoitrous, 4 31.1 TSHB TPO TG
17 differentiated thyroid carcinoma 31.0 TSHR TPO TG RET
18 myxedema 31.0 TSHR TPO TG CTLA4
19 autoimmune hepatitis 30.9 FAS CTLA4 AIRE
20 ovarian germ cell teratoma 30.9 TG RET
21 papillary thyroid microcarcinoma 30.9 TSHR TG CALCA
22 vitiligo-associated multiple autoimmune disease susceptibility 1 30.9 PTPN22 CTLA4 AIRE
23 trypanosomiasis 30.9 IL4 IFNG ICAM1
24 goiter 30.8 TSHR TPO TG SLC26A4 LGALS3 CALCA
25 keratoconjunctivitis 30.8 IL4 IFNG ICAM1
26 myasthenia gravis 30.8 IL4 IFNG CTLA4 AIRE
27 proteasome-associated autoinflammatory syndrome 1 30.8 IL4 IFNG ICAM1
28 acute graft versus host disease 30.8 IL4 IFNG FASLG
29 relapsing-remitting multiple sclerosis 30.8 IL4 IFNG ICAM1
30 benign struma ovarii 30.8 TSHR TG RET
31 graft-versus-host disease 30.8 IFNG FASLG FAS
32 nontoxic goiter 30.8 TSHR TPO TG FASLG CALCA
33 lymphadenitis 30.7 IFNG ICAM1 FASLG
34 malignant struma ovarii 30.7 TG RET LGALS3
35 papillary carcinoma 30.7 TSHR TPO TG RET LGALS3 CALCA
36 pernicious anemia 30.7 TPO TG AIRE
37 lymphoproliferative syndrome 30.7 FASLG FAS CTLA4
38 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.7 TSHR TPO TG PTPN22 IFNG CTLA4
39 pendred syndrome 30.7 TPO TG SLC26A4
40 colloid adenoma 30.6 TG LGALS3
41 thyroid carcinoma, familial medullary 30.6 TG RET CALCA
42 diabetes mellitus 30.6 PTPN22 IFNG FASLG FAS CTLA4 AIRE
43 contact dermatitis 30.6 IL4 IFNG ICAM1
44 lichen planus 30.5 IL4 IFNG ICAM1
45 hypoadrenocorticism, familial 30.5 TPO PTPN22 CTLA4 AIRE
46 acute myocarditis 30.5 FASLG FAS CD40
47 b-cell growth factor 30.5 IL4 IFNG
48 uveitis 30.5 IL4 IFNG ICAM1 CTLA4
49 diabetes mellitus, insulin-dependent 30.5 TPO TG PTPN22 IL4 IFNG CTLA4
50 parathyroid carcinoma 30.5 RET LGALS3 CALCA

Graphical network of the top 20 diseases related to Hashimoto Thyroiditis:



Diseases related to Hashimoto Thyroiditis

Symptoms & Phenotypes for Hashimoto Thyroiditis

Human phenotypes related to Hashimoto Thyroiditis:

32
# Description HPO Frequency HPO Source Accession
1 hashimoto thyroiditis 32 HP:0000872
2 autoimmune antibody positivity 32 HP:0030057

Symptoms via clinical synopsis from OMIM:

57
Endocrine:
hashimoto thyroiditis

Lab:
hashimoto struma
thyroid autoantibodies
abnormal, small, iodinated protein in the serum
defect in thyroid basement membrane

Immunology:
thyroid autoimmunity

Clinical features from OMIM:

140300

MGI Mouse Phenotypes related to Hashimoto Thyroiditis:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.39 AIRE CD40 CTLA4 FAS FASLG ICAM1
2 homeostasis/metabolism MP:0005376 10.39 AIRE CD40 CTLA4 FAS FASLG ICAM1
3 hematopoietic system MP:0005397 10.37 AIRE CD40 CTLA4 FAS FASLG ICAM1
4 immune system MP:0005387 10.37 AIRE CD40 CTLA4 FAS FASLG ICAM1
5 digestive/alimentary MP:0005381 10.34 AIRE CTLA4 FAS FASLG ICAM1 IFNG
6 growth/size/body region MP:0005378 10.31 AIRE FAS ICAM1 IFNG IL4 LGALS3
7 mortality/aging MP:0010768 10.23 AIRE CTLA4 FAS FASLG ICAM1 IFNG
8 nervous system MP:0003631 10.18 AIRE CD40 FAS FASLG ICAM1 IFNG
9 liver/biliary system MP:0005370 10.08 AIRE CTLA4 FAS FASLG IFNG IL4
10 neoplasm MP:0002006 10.03 AIRE FAS FASLG ICAM1 IFNG LGALS3
11 normal MP:0002873 9.97 AIRE CD40 CTLA4 FAS FASLG IFNG
12 renal/urinary system MP:0005367 9.97 CD40 FAS FASLG IFNG IL4 LGALS3
13 reproductive system MP:0005389 9.96 AIRE FAS FASLG IFNG IL4 LGALS3
14 respiratory system MP:0005388 9.81 AIRE CTLA4 FAS FASLG IFNG IL4
15 skeleton MP:0005390 9.7 CD40 CTLA4 FAS FASLG IFNG IL4
16 vision/eye MP:0005391 9.23 AIRE FAS FASLG ICAM1 IFNG IL4

Drugs & Therapeutics for Hashimoto Thyroiditis

Drugs for Hashimoto Thyroiditis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 128)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Orange Approved Phase 4
2 Hematinics Phase 4
3 Epoetin alfa Phase 4 113427-24-0
4
Propylthiouracil Approved, Investigational Phase 3 51-52-5 657298
5
tannic acid Approved Phase 3 1401-55-4
6
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
7
Carbimazole Approved, Investigational Phase 3 22232-54-8 31072
8 Antimetabolites Phase 3
9 Antithyroid Agents Phase 3
10
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
11
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
12
Methimazole Approved Phase 2 60-56-0 1349907
13
Hydroxychloroquine Approved Phase 2 118-42-3 3652
14
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
17
Aspirin Approved, Vet_approved Phase 2 50-78-2 2244
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19
Ocrelizumab Approved, Investigational Phase 2 637334-45-3
20
rituximab Approved Phase 2 174722-31-7 10201696
21
Atezolizumab Approved, Investigational Phase 1, Phase 2 1380723-44-3
22
Durvalumab Approved, Investigational Phase 1, Phase 2 1428935-60-7
23
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
25
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447
26
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
28
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
29
Pidilizumab Investigational Phase 1, Phase 2 1036730-42-3
30
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
31
Tremelimumab Investigational Phase 1, Phase 2 745013-59-6
32 Antibodies Phase 1, Phase 2
33 Immunoglobulins Phase 1, Phase 2
34 Immunosuppressive Agents Phase 1, Phase 2
35 Alkylating Agents Phase 1, Phase 2
36 Antineoplastic Agents, Alkylating Phase 1, Phase 2
37 Anti-HIV Agents Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2
39 Anti-Retroviral Agents Phase 1, Phase 2
40 Anti-Infective Agents Phase 2
41 Antiparasitic Agents Phase 2
42 Antimalarials Phase 2
43 Antiprotozoal Agents Phase 2
44 Antirheumatic Agents Phase 2
45 Immunologic Factors Phase 2
46 Analgesics Phase 2
47 Cyclooxygenase Inhibitors Phase 2
48 Analgesics, Non-Narcotic Phase 2
49 Fibrinolytic Agents Phase 2
50 Prednisolone acetate Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# Name Status NCT ID Phase Drugs
1 L-selenomethionine Supplementation in Children and Adolescents With Autoimmune Thyroiditis: a Randomized Blind Placebo-controlled Clinical Trial Unknown status NCT02644707 Phase 4
2 Effect of Erythropoietin in Refractory Autoimmune Encephalitis Patients Unknown status NCT03004209 Phase 4 Erythropoietin
3 Safety and Efficacy of Oral Mega Pulse Methylprednisolone in Severe Therapy Resistant Alopecia Areata Completed NCT01167946 Phase 4 methylprednisolone sodium succinate;methylprednisolone sodium succinate;methylprednisolone sodium succinate
4 A Randomised Study of Two Anti-thyroid Drug Treatment Regimens in Young People Completed NCT01436994 Phase 3 carbimazole;propylthiouracil;thyroxine
5 Effect of Supplementation of Two Doses of L-selenomethionine (Semet; 80 and 160 mcg) Versus Placebo in Patients With Chronic Autoimmune Thyroiditis (AIT) With Normal Thyroid Function. Unknown status NCT02302768 Phase 2
6 Effect of IL-2 in Refractory Autoimmune Encephalitis Patients: A Pilot Study Unknown status NCT02714959 Phase 1, Phase 2 Proleukin
7 A Phase I/ II Clinical Trial of MDV9300 (Pidilizumab) in Diffuse Intrinsic Pontine Glioma Unknown status NCT01952769 Phase 1, Phase 2
8 Low-Level Laser Therapy in Chronic Autoimmune Thyroiditis: Randomized, Placebo Controlled Clinical Trial Completed NCT01129492 Phase 2
9 A Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Trial to Evaluate the Safety and Potential Effects of the Dietary Supplement Anatabloc on Antithyroid Autoantibodies and Thyroid Function in Autoimmune Thyroiditis Completed NCT01551498 Phase 2
10 A Pilot Study of the Role of Methimazole in Patients With Polymyositis and Dermatomyositis Completed NCT00001421 Phase 2 methimazole
11 The Role of Immunomodulatory Treatment in Success of ICSI in Patients Who Have Infertility With Autoimmune Thyroiditis Recruiting NCT03289403 Phase 2 Immunomodulatory;Thyroxine
12 Exploratory Study of Efficacy of Ocrelizumab in Autoimmune Encephalitis Recruiting NCT03835728 Phase 2 Ocrelizumab;Saline
13 A Randomised Phase II Double-blinded Placebo-controlled Trial of Intravenous Immunoglobulins and Rituximab in Patients With Antibody-associated Psychosis (SINAPPS2) Recruiting NCT03194815 Phase 2 Intravenous immunoglobulin;Placebo;Rituximab
14 A Pilot Study of Immune Checkpoint Inhibition (Durvalumab With or Without Tremelimumab) in Combination With Radiation Therapy in Patients With Unresectable Pancreatic Cancer Recruiting NCT02311361 Phase 1, Phase 2
15 A Multicenter Randomized, Controlled, Double-blinded Trial to Evaluate Efficacy and Safety of Bortezomib in Patients With Severe Autoimmune Encephalitis Not yet recruiting NCT03993262 Phase 2 Bortezomib;Placebo
16 Phase 1 Single-Dose Study of the Pharmacokinetics of Sustained-Release Liothyronine Sodium (T3) in Healthy Subjects Completed NCT01581463 Phase 1 Liothyronine, Sodium
17 Association of Serum Fibroblast Growth Factor 21 (FGF-21) Levels With Resting Metabolic Rate (RMR), in Children and Adolescents With Hashimoto's Thyroiditis. Unknown status NCT02725879
18 The Effect of Plaquenil on Serum Inflammatory Markers and Goiter in Euthyroid Young Women With Hashimoto's Thyroiditis Unknown status NCT02126683 Hydroxychloroquine
19 Study of DNA Methylation in Children and Adolescents With Autoimmune Thyroid Diseases Unknown status NCT02491567
20 CXCL9 and CXCL11 Levels in Patients With Autoimmune Thyroiditis and Habitual Abortions Unknown status NCT01644318
21 The Association of Costimulatory Molecules and PPAR-polymorphisms With Autoimmune Thyroid Disease in Taiwan Unknown status NCT01260532
22 Observative and Community Study, Using Nailfold Video-capillaroscopy in Order to Assess the Prevalence of Pathological Changes in the Capillaries in First Grade Family Members of Patient Diagnosed With Systemic Sclerosis Unknown status NCT02795221
23 Autoantibodies in Patients With Type 1 Diabetes Mellitus Unknown status NCT00173628
24 TSH and AMH in Infertile Women Unknown status NCT02710175
25 Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis Completed NCT00552487 synacthen
26 Involvement of Viral Infections in the Pathogenesis of Chronic Lymphocytic Thyroiditis Completed NCT03114267
27 Is There Any Association Between Thyroid Cancer and Hashimotos Thyroiditis? Completed NCT01428167
28 Sonographic Characterization of the Thyroid Gland in Patients With Systemic Sclerosis With and Without Hashimoto Thyroiditis Completed NCT01270425
29 The Effect of Hydroxychloroquine Treatment in Hashimoto's Thyroiditis Completed NCT01760421 Hydroxychloroquine
30 Serum Antibodies Against the Insulin-like Growth Factor-1 Receptor (IGF-1R) in Graves' Disease and Graves' Orbitopathy Completed NCT03498417
31 Oxidative Status in Children and Adolescents With Autoimmune Thyroiditis: A Tertiary Center Study From Upper Egypt Completed NCT02318160
32 Selenium Treatment in Autoimmune Thyroiditis: Long Term Follow-Up With Variable Doses Completed NCT00271427 L-Selenomethionine
33 Prevalence of Circulating Parvovirus Genome in Recently Diagnosed Graves' Disease: a Case-control Study Completed NCT02798965
34 Autoimmune Thyroid Disease Genetic Study Completed NCT00958113
35 Fetuin A as a New Marker of Inflammation in Hashimoto Thyroiditis Completed NCT01884649
36 Long-term Follow-up After Treatment of Chronic Autoimmune Thyroiditis With Low Level Laser Completed NCT02240563
37 Changes in Thyroid Function Tests and Texture Following Bariatric Surgery Induced Weight Loss Completed NCT03048708
38 Selenium Supplementation Treatment in Euthyroid Pregnant Women With Autoimmune Thyroid Disease: Effects on Obstetrical Complications Completed NCT01465867
39 Thyroid Disorders in Malaysian: A Nationwide Multicentre Study Completed NCT02190214
40 Surgical Treatment of Hashimotos Disease. Effect on Antibodies and Clinical Symptoms. Completed NCT02319538
41 Color Flow Doppler Ultrasound in Subclinical Thyroid Dysfunction Completed NCT00437931
42 Evaluation of Oxidative Stress and Effect of Levothyroxine Treatment on Oxidative Stress in Hashimoto Disease Completed NCT01102205
43 Gluten-related Disorders in Patients Affected With Familial Mediterranean Fever Completed NCT03563300
44 Cervarix Long-term Safety Surveillance Using the PGRx Information System (PGRx Study) Completed NCT01498627
45 Pilot Study for Evaluation of Glatiramer Acetate in RRMS Patients With Comorbid Autoimmune Conditions Completed NCT01456416
46 Randomized Double-Blind Placebo-Controlled Trial (Wheat vs Placebo) in Wheat Sensitive Patients for Evaluation of Bio-Markers of a Single Referred Symptom (Bloating & Swelling) Completed NCT01762566
47 T and B Cells Infiltrating Orbital Tissues in Graves' Orbitopathy (GO) and Their Relation With GO Features Completed NCT03195296
48 A Phase IV Study to Assess the Safety of Menveo Vaccine Being Used by HMO Subjects Aged 11-21 Years of Age Completed NCT01452464
49 The Usage of Neuropsychological Tests and Multi-mode Magnetic Resonance Imaging in Patients With Autoimmune Encephalitis for Cognitive Neural Mechanism Completed NCT03530462 rituximab;cyclophosphamide;Steroids;Intravenous immunoglobulin
50 Levothyroxine Absorption in Morbidly Obese Patients Before and After Roux-en-Y Bariatric Surgery Completed NCT01189344 Levothyroxine

Search NIH Clinical Center for Hashimoto Thyroiditis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


levothyroxine
Levothyroxine Sodium
liothyronine
liothyronine sodium
Thyroglobulin
THYROID (BEEF)
thyroid (USP)
THYROID PWDR

Cochrane evidence based reviews: thyroiditis, autoimmune

Genetic Tests for Hashimoto Thyroiditis

Genetic tests related to Hashimoto Thyroiditis:

# Genetic test Affiliating Genes
1 Hashimoto Thyroiditis 29 CTLA4

Anatomical Context for Hashimoto Thyroiditis

The Foundational Model of Anatomy Ontology organs/tissues related to Hashimoto Thyroiditis:

19
Thyroid Gland

MalaCards organs/tissues related to Hashimoto Thyroiditis:

41
Thyroid, T Cells, Heart, B Cells, Testes, Lymph Node, Bone

Publications for Hashimoto Thyroiditis

Articles related to Hashimoto Thyroiditis:

(show top 50) (show all 4258)
# Title Authors PMID Year
1
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. 9 38 8 71
15719322 2005
2
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 8 71
12724780 2003
3
Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families. 38 8
12973666 2003
4
A genome-wide scan for autoimmune thyroiditis in the Old Order Amish: replication of genetic linkage on chromosome 5q11.2-q14.3. 38 8
12629121 2003
5
Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. 38 8
11912181 2002
6
Hypothyroidism in transgenic mice expressing IFN-gamma in the thyroid. 38 8
10677524 2000
7
Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. 9 71
9398726 1997
8
Potential involvement of Fas and its ligand in the pathogenesis of Hashimoto's thyroiditis. 9 8
9020075 1997
9
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. 71
21841778 2011
10
Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. 71
19898480 2009
11
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 71
19430480 2009
12
Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. 71
19265110 2009
13
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 71
18978792 2008
14
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 71
18301444 2008
15
Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. 71
17878369 2007
16
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 71
17554300 2007
17
Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. 71
17170052 2007
18
Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. 71
17436241 2007
19
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. 71
16339849 2006
20
Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. 71
16470599 2006
21
Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. 71
16273109 2005
22
X chromosome monosomy: a common mechanism for autoimmune diseases. 8
15972694 2005
23
CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. 71
15688186 2005
24
Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. 71
15744042 2005
25
The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. 71
15580548 2005
26
SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease. 8
15294872 2004
27
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 71
15273934 2004
28
CTLA4 +49 A/G and CT60 polymorphisms in Dutch coeliac disease patients. 71
15199380 2004
29
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. 71
15208781 2004
30
Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. 71
15138458 2004
31
Choanal atresia associated with prenatal methimazole exposure: three new patients. 8
15266622 2004
32
Patients with early onset of type 1 diabetes have significantly higher GG genotype at position 49 of the CTLA4 gene. 71
15301861 2004
33
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. 71
15004560 2004
34
Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patients. 8
12768441 2003
35
The genetics of autoimmune thyroid disease. 8
12466323 2002
36
Proteomic analysis of human brain identifies alpha-enolase as a novel autoantigen in Hashimoto's encephalopathy. 8
12297304 2002
37
Evidence of fetal microchimerism in Hashimoto's thyroiditis. 8
11397845 2001
38
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. 8
11440990 2001
39
The codon 17 polymorphism of the CTLA4 gene in type 2 diabetes mellitus. 71
11158025 2001
40
The CTLA4/CD28 gene region on chromosome 2q33 confers susceptibility to celiac disease in a way possibly distinct from that of type 1 diabetes and other chronic inflammatory disorders. 71
11098935 2000
41
Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. 8
10599734 1999
42
Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. 71
10475192 1999
43
CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. 71
10189842 1998
44
Epidemiology and estimated population burden of selected autoimmune diseases in the United States. 8
9281381 1997
45
Insulin-dependent diabetes mellitus (IDDM) is associated with CTLA4 polymorphisms in multiple ethnic groups. 71
9259273 1997
46
The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. 71
8817351 1996
47
Autosomal dominant inheritance of autoantibodies to thyroid peroxidase and thyroglobulin--studies in families not selected for autoimmune thyroid disease. 8
2022716 1991
48
Autosomal dominant transmission of autoantibodies to thyroglobulin and thyroid peroxidase. 8
2307728 1990
49
Familial Hashimoto's thyroiditis with kidney impairment. 8
3662585 1987
50
The familial occurrence of lymphocytic thyroiditis in borzoi dogs. 8
3840332 1985

Variations for Hashimoto Thyroiditis

ClinVar genetic disease variations for Hashimoto Thyroiditis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTPN22 NM_015967.7(PTPN22): c.1858C> T (p.Arg620Trp) single nucleotide variant risk factor rs2476601 1:114377568-114377568 1:113834946-113834946
2 CTLA4 NM_005214.5(CTLA4): c.*1148+236G> A single nucleotide variant risk factor rs3087243 2:204738919-204738919 2:203874196-203874196
3 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 2:204735609-204735609 2:203870886-203870886
4 CTLA4 NM_005214.5(CTLA4): c.49A> G (p.Thr17Ala) single nucleotide variant Benign rs231775 2:204732714-204732714 2:203867991-203867991

Expression for Hashimoto Thyroiditis

Search GEO for disease gene expression data for Hashimoto Thyroiditis.

Pathways for Hashimoto Thyroiditis

Pathways related to Hashimoto Thyroiditis according to KEGG:

37
# Name Kegg Source Accession
1 Autoimmune thyroid disease hsa05320

Pathways related to Hashimoto Thyroiditis according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 TSHR TSHB TPO TG SLC26A4
2 12.7 RET IL4 IFNG FASLG FAS
3
Show member pathways
12.41 IL4 IFNG FAS CTLA4
4
Show member pathways
12.31 IL4 IFNG ICAM1 FASLG FAS
5
Show member pathways
12.1 TSHR TSHB TPO TG IL4 IFNG
6
Show member pathways
12.01 IL4 IFNG FASLG FAS
7 12.01 PTPN22 LGALS3 IL4 IFNG FASLG FAS
8
Show member pathways
11.83 IL4 IFNG FASLG
9 11.75 LGALS3 IL4 IFNG ICAM1
10 11.73 IFNG ICAM1 CTLA4
11 11.65 IL4 IFNG ICAM1
12 11.56 IL4 IFNG CD40
13
Show member pathways
11.5 IL4 IFNG FASLG CTLA4
14 11.41 IFNG FASLG FAS
15 11.38 IFNG ICAM1 CD40
16 11.31 IFNG FASLG CALCA
17 11.28 IFNG ICAM1 FASLG
18 11.13 IFNG ICAM1 FASLG FAS
19 11.1 IL4 IFNG CD40
20 10.71 TSHR TSHB
21 10.11 TSHR TPO TG

GO Terms for Hashimoto Thyroiditis

Cellular components related to Hashimoto Thyroiditis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 TSHB TG LGALS3 IL4 IFNG FASLG
2 integral component of plasma membrane GO:0005887 9.87 TSHR TPO RET ICAM1 FASLG CTLA4
3 extracellular space GO:0005615 9.56 TSHB TPO LGALS3 IL4 IFNG ICAM1
4 membrane raft GO:0045121 9.46 RET ICAM1 FASLG FAS
5 cell surface GO:0009986 9.17 TSHR TPO LGALS3 ICAM1 FASLG FAS

Biological processes related to Hashimoto Thyroiditis according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.73 TSHR TSHB FASLG CALCA
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.58 IL4 IFNG CD40
3 extrinsic apoptotic signaling pathway GO:0097191 9.5 IFNG FASLG FAS
4 regulation of regulatory T cell differentiation GO:0045589 9.49 IFNG CTLA4
5 hormone biosynthetic process GO:0042446 9.48 TPO TG
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.46 IL4 CD40
7 immune response GO:0006955 9.43 IL4 IFNG FASLG FAS CTLA4 AIRE
8 necroptotic signaling pathway GO:0097527 9.37 FASLG FAS
9 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.33 ICAM1 FASLG FAS
10 iodide transport GO:0015705 9.26 TG SLC26A4
11 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 8.8 LGALS3 FASLG FAS

Molecular functions related to Hashimoto Thyroiditis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 TSHB TG CALCA
2 signaling receptor activity GO:0038023 9.02 TSHR RET ICAM1 FAS CD40

Sources for Hashimoto Thyroiditis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....