Format

Send to:

Choose Destination

Hashimoto thyroiditis(HT)

MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
Synonyms: Chronic lymphocytic thyroiditis; Hashimoto Disease; HASHIMOTO STRUMA; Hashimoto's thyroiditis; HT; HYPOTHYROIDISM, AUTOIMMUNE
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hashimoto thyroiditis (21983002); Autoimmune lymphocytic chronic thyroiditis (21983002); Lymphocytic thyroiditis (21983002); Struma lymphomatosa (21983002); Hashimoto's disease (21983002); Struma lymphomatosis (21983002); Chronic lymphocytic thyroiditis (21983002); Hashimoto's thyroiditis (21983002)
 
Gene (location): CTLA4 (2q33.2)
OMIM®: 140300
HPO: HP:0000872

Definition

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.
[from GHR]

Clinical features

From HPO
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
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.
Autoimmune antibody positivity
MedGen UID:
868268
Concept ID:
C4022660
Laboratory or Test Result
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHashimoto thyroiditis

Conditions with this feature

Bannayan-Riley-Ruvalcaba syndrome
MedGen UID:
78554
Concept ID:
C0265326
Disease or Syndrome
The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. CS is a multiple hamartoma syndrome with a high risk for benign and malignant tumors of the thyroid, breast, and endometrium. Affected individuals usually have macrocephaly, trichilemmomas, and papillomatous papules, and present by the late 20s. The lifetime risk of developing breast cancer is 85%, with an average age of diagnosis between 38 and 46 years. The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%. The risk for endometrial cancer may approach 28%. BRRS is a congenital disorder characterized by macrocephaly, intestinal hamartomatous polyposis, lipomas, and pigmented macules of the glans penis. PS is a complex, highly variable disorder involving congenital malformations and hamartomatous overgrowth of multiple tissues, as well as connective tissue nevi, epidermal nevi, and hyperostoses. Proteus-like syndrome is undefined but refers to individuals with significant clinical features of PS who do not meet the diagnostic criteria for PS.
Hashimoto thyroiditis
MedGen UID:
151769
Concept ID:
C0677607
Disease or Syndrome
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.
Limb-girdle myasthenia, autoimmune
MedGen UID:
331795
Concept ID:
C1834635
Disease or Syndrome
Autoimmune disease 1
MedGen UID:
335848
Concept ID:
C1842979
Finding
Complement component c1s deficiency
MedGen UID:
462428
Concept ID:
C3151078
Disease or Syndrome
Familial cold autoinflammatory syndrome 3
MedGen UID:
482544
Concept ID:
C3280914
Disease or Syndrome
Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).
Cowden syndrome 7
MedGen UID:
908796
Concept ID:
C4225179
Disease or Syndrome
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
MedGen UID:
1648299
Concept ID:
C4748741
Disease or Syndrome
Vertebral anomalies and variable endocrine and T-cell dysfunction is a syndrome characterized by an overlapping spectrum of features. Skeletal malformations primarily involve the vertebrae, and endocrine abnormalities involving parathyroid hormone (PTH; 168450), growth hormone (GH1; 139250), and the thyroid gland have been reported. T-cell abnormalities have been observed, with some patients showing thymus gland aplasia or hypoplasia. Patients have mild craniofacial dysmorphism, and some show developmental delay or behavioral problems. Cardiac defects may be present (Liu et al., 2018).

Recent clinical studies

Etiology

Uc ZA, Gorar S, Mizrak S, Gullu S
J Endocrinol Invest 2019 Feb;42(2):175-181. Epub 2018 May 18 doi: 10.1007/s40618-018-0899-8. PMID: 29777516
Yucel S, Ceyhan Bilgici M, Kara C, Can Yilmaz G, Aydin HM, Elmali M, Tomak L, Saglam D
J Ultrasound Med 2018 May;37(5):1143-1149. Epub 2017 Oct 24 doi: 10.1002/jum.14459. PMID: 29064111
Durfee SM, Benson CB, Arthaud DM, Alexander EK, Frates MC
J Ultrasound Med 2015 Apr;34(4):697-704. doi: 10.7863/ultra.34.4.697. PMID: 25792586
Muratli S, Uzunlulu M, Gonenli G, Oguz A, Isbilen B
Minerva Endocrinol 2015 Mar;40(1):9-14. Epub 2014 Apr 14 PMID: 24732714
Wang L, Xia Y, Jiang YX, Dai Q, Li XY
J Ultrasound Med 2012 Nov;31(11):1767-75. doi: 10.7863/jum.2012.31.11.1767. PMID: 23091247

Diagnosis

Uc ZA, Gorar S, Mizrak S, Gullu S
J Endocrinol Invest 2019 Feb;42(2):175-181. Epub 2018 May 18 doi: 10.1007/s40618-018-0899-8. PMID: 29777516
Yucel S, Ceyhan Bilgici M, Kara C, Can Yilmaz G, Aydin HM, Elmali M, Tomak L, Saglam D
J Ultrasound Med 2018 May;37(5):1143-1149. Epub 2017 Oct 24 doi: 10.1002/jum.14459. PMID: 29064111
Rhee SJ, Hong HS, Kim CH, Lee EH, Cha JG, Jeong SH
J Ultrasound Med 2015 Dec;34(12):2237-43. Epub 2015 Nov 5 doi: 10.7863/ultra.14.11077. PMID: 26543169
Ozturk T, Bozgeyik Z, Ozturk F, Burakgazi G, Akyol M, Coskun S, Ozkan Y, Ogur E
Eur Rev Med Pharmacol Sci 2015 Aug;19(15):2798-803. PMID: 26241532
Wang L, Xia Y, Jiang YX, Dai Q, Li XY
J Ultrasound Med 2012 Nov;31(11):1767-75. doi: 10.7863/jum.2012.31.11.1767. PMID: 23091247

Therapy

Uc ZA, Gorar S, Mizrak S, Gullu S
J Endocrinol Invest 2019 Feb;42(2):175-181. Epub 2018 May 18 doi: 10.1007/s40618-018-0899-8. PMID: 29777516
Semiz H, Yalcin M, Kobak S
Reumatismo 2018 Jul 6;70(2):106-110. doi: 10.4081/reumatismo.2018.1017. PMID: 29976045
Leonardi A, Penta L, Cofini M, Lanciotti L, Principi N, Esposito S
Int J Environ Res Public Health 2018 Apr 9;15(4) doi: 10.3390/ijerph15040704. PMID: 29642533Free PMC Article
Kwon H, Choi JY, Moon JH, Park HJ, Lee WW, Lee KE
Head Neck 2016 Apr;38 Suppl 1:E730-5. Epub 2015 Jul 15 doi: 10.1002/hed.24080. PMID: 25899980
Muratli S, Uzunlulu M, Gonenli G, Oguz A, Isbilen B
Minerva Endocrinol 2015 Mar;40(1):9-14. Epub 2014 Apr 14 PMID: 24732714

Prognosis

Yucel S, Ceyhan Bilgici M, Kara C, Can Yilmaz G, Aydin HM, Elmali M, Tomak L, Saglam D
J Ultrasound Med 2018 May;37(5):1143-1149. Epub 2017 Oct 24 doi: 10.1002/jum.14459. PMID: 29064111
Chai H, Zhu ZJ, Chen ZQ, Yu YL
Endocr Res 2016 Aug;41(3):218-22. Epub 2016 May 9 doi: 10.3109/07435800.2015.1010210. PMID: 27158852
Pehlivantürk Kızılkan M, Kanbur N, Akgül S, Alikaşifoğlu A
J Clin Res Pediatr Endocrinol 2016 Mar 5;8(1):92-5. Epub 2015 Dec 18 doi: 10.4274/jcrpe.2297. PMID: 26757948Free PMC Article
Kwon H, Choi JY, Moon JH, Park HJ, Lee WW, Lee KE
Head Neck 2016 Apr;38 Suppl 1:E730-5. Epub 2015 Jul 15 doi: 10.1002/hed.24080. PMID: 25899980
Acharya UR, Sree SV, Krishnan MM, Molinari F, Zieleźnik W, Bardales RH, Witkowska A, Suri JS
J Ultrasound Med 2014 Feb;33(2):245-53. doi: 10.7863/ultra.33.2.245. PMID: 24449727

Clinical prediction guides

Lyu GR, Zheng WK, Lin WL, Zheng LP, Guo HX, Li LY
Ultrasound Q 2018 Jun;34(2):67-70. doi: 10.1097/RUQ.0000000000000324. PMID: 29112639
Yucel S, Ceyhan Bilgici M, Kara C, Can Yilmaz G, Aydin HM, Elmali M, Tomak L, Saglam D
J Ultrasound Med 2018 May;37(5):1143-1149. Epub 2017 Oct 24 doi: 10.1002/jum.14459. PMID: 29064111
Kwon H, Choi JY, Moon JH, Park HJ, Lee WW, Lee KE
Head Neck 2016 Apr;38 Suppl 1:E730-5. Epub 2015 Jul 15 doi: 10.1002/hed.24080. PMID: 25899980
Rhee SJ, Hong HS, Kim CH, Lee EH, Cha JG, Jeong SH
J Ultrasound Med 2015 Dec;34(12):2237-43. Epub 2015 Nov 5 doi: 10.7863/ultra.14.11077. PMID: 26543169
Acharya UR, Sree SV, Krishnan MM, Molinari F, Zieleźnik W, Bardales RH, Witkowska A, Suri JS
J Ultrasound Med 2014 Feb;33(2):245-53. doi: 10.7863/ultra.33.2.245. PMID: 24449727

Recent systematic reviews

Ruzieh M, Batizy L, Dasa O, Oostra C, Grubb B
Scand Cardiovasc J 2017 Oct;51(5):243-247. Epub 2017 Jul 24 doi: 10.1080/14017431.2017.1355068. PMID: 28738696
Wang J, Lv S, Chen G, Gao C, He J, Zhong H, Xu Y
Nutrients 2015 Apr 3;7(4):2485-98. doi: 10.3390/nu7042485. PMID: 25854833Free PMC Article
Versini M, Jeandel PY, Rosenthal E, Shoenfeld Y
Autoimmun Rev 2014 Sep;13(9):981-1000. Epub 2014 Aug 2 doi: 10.1016/j.autrev.2014.07.001. PMID: 25092612
Somers EC, Thomas SL, Smeeth L, Hall AJ
Epidemiology 2006 Mar;17(2):202-17. doi: 10.1097/01.ede.0000193605.93416.df. PMID: 16477262

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center