MCID: HYP086
MIFTS: 59

Hypothyroidism malady

Genetic diseases, Endocrine diseases, Rare diseases, Immune diseases categories

Aliases & Classifications for Hypothyroidism

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Hypothyroidism, Aliases & Descriptions:

Name: Hypothyroidism 9 11 43 32 60
Thyroid Diseases 43 32 60
Thyroid Insufficiency 9
Dysfunction Thyroid 43
 
Thyroid Dysfunction 60
Thyroid Deficiency 9
Thyroid Disease 63


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases, Immune diseases


External Ids:

Disease Ontology9 DOID:1459
NCIt38 C26800
ICD9CM27 244.9
MeSH33 D007037
UMLS60 C002067

Summaries for Hypothyroidism

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MedlinePlus:32 Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. it is one of your endocrine glands, which make hormones. thyroid hormones control the rate of many activities in your body. these include how fast you burn calories and how fast your heart beats. all of these activities are your body's metabolism. thyroid problems include goiter - enlargement of the thyroid gland hyperthyroidism - when your thyroid gland makes more thyroid hormones than your body needs hypothyroidism - when your thyroid gland does not make enough thyroid hormones thyroid cancer thyroid nodules - lumps in the thyroid gland thyroiditis - swelling of the thyroid dept. of health and human services office on women's health

MalaCards based summary: Hypothyroidism, also known as thyroid diseases, is related to thyroiditis and autoimmune thyroiditis. An important gene associated with Hypothyroidism is TPO (thyroid peroxidase), and among its related pathways are Hormone ligand-binding receptors and Allograft rejection. The drug kelp preparation and the compounds iodotyrosine and diiodotyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and heart, and related mouse phenotypes are hearing/vestibular/ear and mortality/aging.

Disease Ontology:9 A thyroid gland disease which involves an underproduction of thyroid hormone.

Wikipedia:63 Hypothyroidism (/?ha?p???a??r??d?z?m/; from hypo- meaning under or reduced, plus thyroid), often called... more...

Related Diseases for Hypothyroidism

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Diseases in the Hypothyroidism family:

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia Congenital Hypothyroidism
Familial Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duox2-Related Congenital Hypothyroidism, Iyd-Related
Congenital Hypothyroidism, Tpo-Related Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Hypothyroidism Due to Tsh Receptor Mutations
Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

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

(show top 50)    (show all 594)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis31.6TPO, TG, SERPINA7, TSHR
2autoimmune thyroiditis31.3TG, TPO
3myxedema31.2TSHR, TG, TPO
4hyperthyroidism30.8TPO, TG, SERPINA7, TSHR, TSHB
5subacute thyroiditis30.8TSHR, TG, TPO
6endemic goiter30.6TPO, TG, TSHR
7thyrotoxicosis30.6TSHR, SERPINA7, TG, TPO
8pernicious anemia30.4TPO, TG
9struma ovarii30.4NKX2-1, TSHR, TG
10pendred syndrome30.3TPO, TG, PAX8, DUOX2
11addison's disease30.3TPO, TG
12multinodular goiter30.2TPO, TG, TSHR
13nodular goiter30.2TSHR, TG, TPO
14plummer's disease30.2TG, TPO
15hashimoto thyroiditis30.1TPO, TG, SERPINA7, TSHR
16hypothryoidism, congenital, nongoitrous 430.1TPO, TG, POU1F1, TSHB
17hyperthyroxinemia30.1TPO, SERPINA7, TSHR
18graves' disease30.1TPO, TG, SERPINA7, PAX8, TSHR, FOXE1
19turner syndrome30.0SERPINA7, TG, TPO
20goiter30.0SLC5A5, NKX2-1, TSHB, TSHR, TPO, TG
21toxic diffuse goiter30.0TSHR, TG, TPO
22hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia30.0TG, SERPINA7, PAX8, TSHR, FOXE1, NKX2-1
23papillary carcinoma29.8NKX2-1, TSHR, PAX8, TG, TPO
24pituitary adenoma29.8TSHB, POU1F1, SERPINA7
25thyroid cancer29.7TPO, TG, PAX8, TSHR, NKX2-1, SLC5A5
26pituitary hormone deficiency, combined, 229.7POU1F1, TSHB
27follicular adenoma29.7TPO, TG, PAX8, TSHR, NKX2-1
28congenital hypothyroidism29.7TPO, TG, SERPINA7, POU1F1, PAX8, DUOX2
29thyroid adenoma29.6TPO, TG, SERPINA7, TSHR
30adenoma29.4TPO, TG, POU1F1, PAX8, DUOX2, TSHR
31neonatal hypothyroidism10.9
32hepatitis10.5
33goiter, multinodular 1, with or without sertoli-leydig cell tumors10.4TPO, TG
34obesity10.4
35pericardial effusion10.4
36hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia10.4
37myopathy10.4
38choreoathetosis, hypothyroidism, and neonatal respiratory distress10.3
39phenylketonuria10.3
40cardiac tamponade10.3
41down syndrome10.3
42precocious puberty10.3
43familial hypothyroidism10.3
44hypothyroidism due to tsh receptor mutations10.3
45hypothyroidism, congenital, nongoitrous, 110.3
46pseudohypoparathyroidism10.3
47hyperprolactinemia10.3
48hypogonadism10.3
49hypopituitarism10.3
50acth deficiency10.3

Graphical network of the top 20 diseases related to Hypothyroidism:



Diseases related to hypothyroidism

Symptoms for Hypothyroidism

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Drugs & Therapeutics for Hypothyroidism

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Drug clinical trials:

Search ClinicalTrials for Hypothyroidism

Search NIH Clinical Center for Hypothyroidism

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Hypothyroidism

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Anatomical Context for Hypothyroidism

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MalaCards organs/tissues related to Hypothyroidism:

31
Thyroid, Testes, Heart, Pituitary, Brain, Bone, Kidney, Ovary, Liver, Testis, Cortex, Endothelial, Breast, Skin, Salivary gland, Eye, Spinal cord, Skeletal muscle, Colon, Lung, Bone marrow, Retina, Smooth muscle, Uterus, Prostate, T cells, Hypothalamus, Fetal thyroid, Pancreatic islet

Animal Models for Hypothyroidism or affiliated genes

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MGI Mouse Phenotypes related to Hypothyroidism:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.1TPO, POU1F1, PAX8, DUOX2, TSHR
2MP:00107687.6POU1F1, PAX8, TSHR, FOXE1, NKX2-5, NKX2-1
3MP:00053797.2GLIS3, TPO, TG, POU1F1, PAX8, DUOX2
4MP:00053787.2TPO, TG, POU1F1, PAX8, DUOX2, TSHR
5MP:00036317.1TG, POU1F1, PAX8, DUOX2, TSHR, NKX2-5
6MP:00053766.9TPO, TG, POU1F1, PAX8, DUOX2, TSHR

Publications for Hypothyroidism

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Articles related to Hypothyroidism:

(show top 50)    (show all 2165)
idTitleAuthorsYear
1
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. (25720050)
2015
2
Pericardial effusion associated with hypothyroidism in an adult female with Down syndrome. (25851508)
2015
3
Camurati-engelmann disease association with hypogonadism and primary hypothyroidism. (25389497)
2014
4
Diagnosis, treatment and outcome of congenital hypothyroidism. (25231444)
2014
5
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. (25403430)
2014
6
Effects of L-thyroxine therapy on circulating leptin and adiponectin levels in subclinical hypothyroidism: a prospective study. (23684667)
2013
7
Treatment of iron-deficiency anemia in patients with subclinical hypothyroidism. (23582934)
2013
8
Thyroid-specific inactivation of KIF3A alters the TSH signaling pathway and leads to hypothyroidism. (23511952)
2013
9
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
2013
10
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. (23402602)
2013
11
Developmental Hypothyroxinemia and Hypothyroidism Reduce Proliferation of Cerebellar Granule Neuron Precursors in Rat Offspring by Downregulation of the Sonic Hedgehog Signaling Pathway. (24264724)
2013
12
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
13
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. (24174944)
2013
14
Hypothyroidism after hemithyroidectomy. (23982782)
2013
15
Kocher-debre-semelaigne syndrome: hypothyroid muscular pseudohypertrophy-a rare report of two cases. (22934196)
2012
16
A new case of cerebro-facio-thoracic dysplasia in a 3-year-old girl with short stature and hypothyroidism. (22555342)
2012
17
Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). (23295299)
2012
18
Graves' disease in two pregnancies complicated by fetal goitrous hypothyroidism: successful in utero treatment with levothyroxine. (21162688)
2011
19
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7. (19438905)
2010
20
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. (20153805)
2010
21
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (20094846)
2010
22
Perinatal goiter with increased iodine uptake and hypothyroidism due to excess maternal iodine ingestion. (19844123)
2009
23
Prediction of hypothyroidism after hemithyroidectomy: a biochemical and pathological analysis. (17978827)
2008
24
Pericardial effusion due to hypothyroidism in Down syndrome: report of four cases. (17435671)
2007
25
Delta-aminolevulinate dehydratase (delta-ALA-D) activity in diabetes and hypothyroidism. (17291479)
2007
26
A study on dyslipidaemia in subclinical hypothyroidism. (17444061)
2006
27
Central hypothyroidism and hypophysitis during treatment of chronic hepatitis C with pegylated interferon alpha and ribavirin. (16702862)
2006
28
Hypothyroidism might be related to breast cancer in post-menopausal women. (16356089)
2005
29
Serum biomarkers for cardiovascular inflammation in subclinical hypothyroidism. (16268812)
2005
30
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. (15329322)
2004
31
Hyperprolactinaemia in hypothyroidism: clinical significance and impact of TSH normalization. (12580934)
2003
32
Iodine sufficiency and measurements of thyroid function in maternal hypothyroidism. (12699443)
2003
33
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
34
IGF-1 and IGFBP in congenital and acquired hypothyroidism after long-term replacement treatment. (10941423)
1999
35
In vivo and in vitro regulation of thyroid leukemia inhibitory factor (LIF): marker of hypothyroidism. (10443695)
1999
36
Serum creatine kinase levels in overt and subclinical hypothyroidism. (9848718)
1998
37
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. (9185526)
1997
38
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. (9388506)
1997
39
Thyroxine replacement increases central 5-hydroxytryptamine activity and reduces depressive symptoms in hypothyroidism. (8811668)
1996
40
Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse. (8170469)
1994
41
Preparation and characterization of monoclonal antithyrotropin receptor antibodies obtained from peripheral lymphocytes of hypothyroid patients with primary myxedema. (7989462)
1994
42
Hyperprolactinemia in hypothyroidism: effects of L-thyroxine therapy]. (8035765)
1994
43
Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness. (7833660)
1994
44
Acquired von Willebrand's syndrome associated with decrease of plasminogen activator and its inhibitor during hypothyroidism. (8252160)
1993
45
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. (8104016)
1993
46
Lipoprotein and apolipoprotein levels in subclinical hypothyroidism. Effect of levothyroxine therapy. (2222095)
1990
47
The hepatic biosynthesis of rat thyroxine binding globulin (TBG): demonstration, ontogenesis, and up-regulation in experimental hypothyroidism. (2106883)
1990
48
Protease inhibitors in sera as possible indicators of familial hypothyroidism. (4044221)
1985
49
Neonatal hypothyroidism and goiter in one infant of each of two sets of twins due to maternal therapy with antithyroid drugs. (4135477)
1974
50
Alteration by neonatal hypothyroidism of the critical period for the induction of persistent estrus in the rat. (5819715)
1969

Variations for Hypothyroidism

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Expression for genes affiliated with Hypothyroidism

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Search GEO for disease gene expression data for Hypothyroidism.

Pathways for genes affiliated with Hypothyroidism

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Pathways related to Hypothyroidism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSHB, TSHR
2
Show member pathways
9.4TPO, TG, TSHR, TSHB
3
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.1SLC5A5, IYD, TSHB, TPO
49.1TPO, TG, TSHR, SLC5A5
5
Show member pathways
7.7SLC5A5, TPO, TG, PAX8, DUOX2, TSHR

Compounds for genes affiliated with Hypothyroidism

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Compounds related to Hypothyroidism according to GeneCards Suite gene sharing:

(show all 45)
idCompoundScoreTop Affiliating Genes
1iodotyrosine43 2411.4TPO, TG
2diiodotyrosine4310.4TG, TPO
3gliadin4310.3TPO, TG
4carbimazole43 1211.2TSHR, TPO
5chromium4310.2TPO, TG
6amino acid4310.2TSHR, TPO
7kaempferol4310.1SLC5A5, TPO
8maltose43 1211.1TPO, TSHR
9propylthiouracil43 2 1212.0TSHR, TG, TPO
10cardiolipin43 1210.9TG, TPO
11liothyronine49 24 1211.9SERPINA7, TPO
12Hydrogen peroxide249.8DUOX2, TPO
13amiodarone43 49 28 1212.8SERPINA7, TG, TPO
14bisphenol a439.8SERPINA7, NRGN
15sodium dodecylsulfate439.7SERPINA7, TG, TPO
16asparagine439.6TSHR, SERPINA7, TPO
17agarose439.6TPO, SERPINA7, TSHR
18sialic acid439.6TG, SERPINA7, TSHR
19perchlorate439.5TPO, TG, DUOX2, SLC5A5
20methimazole43 2 1211.4TSHR, SERPINA7, TG, TPO
21chloramphenicol43 2 49 1212.3TSHB, TSHR, SERPINA7
22aspartate439.3TPO, TG, SERPINA7, TSHR
23triiodothyronine439.2TPO, TG, SERPINA7, TSHR, TSHB
24thymidine43 2410.1TSHB, TSHR, POU1F1, TG
2512-o-tetradecanoylphorbol 13-acetate439.1TPO, POU1F1, TSHR
26histidine439.0SERPINA7, TSHR, TPO
27125i438.9TPO, TG, SERPINA7, TSHR, SLC5A5
28glutamate438.8TPO, TG, POU1F1, TSHR, NRGN
29forskolin43 49 1210.8TPO, POU1F1, PAX8, TSHR, NKX2-1
30serine438.7TG, SERPINA7, PAX8, TSHR, NKX2-5, NKX2-1
31steroid438.6TPO, SERPINA7, POU1F1, NKX2-1
32acth438.6TPO, SERPINA7, POU1F1, TSHR, TSHB
33progesterone43 28 59 24 1212.6SERPINA7, POU1F1, TSHR, NKX2-1
34arginine438.6TPO, TG, SERPINA7, POU1F1, TSHR
35iodine43 249.5TPO, TG, SERPINA7, DUOX2, TSHR, SLC5A5
36alanine438.5TG, SERPINA7, POU1F1, TSHR, FOXE1
37thyroxine43 249.5TPO, TG, SERPINA7, PAX8, TSHR, TSHB
38sodium iodide438.5TPO, TG, PAX8, DUOX2, TSHR, NKX2-1
39retinoic acid43 249.4TPO, TG, POU1F1, TSHR, TSHB, NKX2-1
40estrogen438.3TG, SERPINA7, POU1F1, TSHR, TSHB, NKX2-1
41oligonucleotide438.3TPO, POU1F1, PAX8, TSHR, NKX2-1, SLC5A5
42sodium43 249.2TPO, TG, PAX8, DUOX2, TSHR, FOXE1
43tyrosine438.0TPO, TG, SERPINA7, POU1F1, TSHR, NKX2-1
44ribonucleic acid437.7TPO, TG, SERPINA7, POU1F1, PAX8, TSHR
45iodide43 248.2SLC5A5, TPO, TG, IYD, NKX2-1, FOXE1

GO Terms for genes affiliated with Hypothyroidism

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Cellular components related to Hypothyroidism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.7NKX2-1, NKX2-5, FOXE1

Biological processes related to Hypothyroidism according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1iodide transportGO:00157059.9SLC5A5, TG
2thyroid-stimulating hormone signaling pathwayGO:00381949.9PAX8, TSHR
3hormone biosynthetic processGO:00424469.8DUOX2, TG, TPO
4anatomical structure morphogenesisGO:00096539.6PAX8, TSHB, FOXE1
5cellular response to gonadotropin stimulusGO:00713719.5SLC5A5, PAX8
6response to vitamin AGO:00331899.5TSHB, SERPINA7
7hydrogen peroxide catabolic processGO:00427449.5TPO, DUOX2
8cellular nitrogen compound metabolic processGO:00346419.4SLC5A5, IYD, TPO
9thyroid gland developmentGO:00308788.8TG, PAX8, DUOX2, FOXE1, NKX2-5, NKX2-1
10negative regulation of transcription from RNA polymerase II promoterGO:00001228.7POU1F1, FOXE1, NKX2-5, NKX2-1, GLIS3
11thyroid hormone generationGO:00065908.7SLC5A5, IYD, FOXE1, DUOX2, TG, TPO
12positive regulation of transcription, DNA-templatedGO:00458938.6POU1F1, PAX8, FOXE1, NKX2-5, NKX2-1
13positive regulation of transcription from RNA polymerase II promoterGO:00459448.6GLIS3, NKX2-1, NKX2-5, PAX8, POU1F1

Molecular functions related to Hypothyroidism according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1iodide peroxidase activityGO:000444710.1IYD, TPO
2thyroid-stimulating hormone receptor activityGO:00049969.8TSHR, PAX8
3peroxidase activityGO:00046019.7DUOX2, TPO
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.7FOXE1, NKX2-5, NKX2-1
5transcription regulatory region DNA bindingGO:00442129.6NKX2-1, NKX2-5, PAX8
6sequence-specific DNA bindingGO:00435658.6POU1F1, FOXE1, NKX2-5, NKX2-1
7sequence-specific DNA binding transcription factor activityGO:00037008.2POU1F1, PAX8, FOXE1, NKX2-5, NKX2-1, GLIS3

Products for genes affiliated with Hypothyroidism

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Sources for Hypothyroidism

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