CH
MCID: CNG006
MIFTS: 72

Congenital Hypothyroidism (CH) malady

Endocrine diseases category

Summaries for Congenital Hypothyroidism

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). the thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. if untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. in the united states and many other countries, all newborns are tested for congenital hypothyroidism. if treatment begins in the first month after birth, infants usually develop normally. most cases of congenital hypothyroidism occur in people with no history of the disorder in their family; however, this condition can also be inherited. last updated: 10/19/2011

MalaCards: Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism and thyroiditis, and has symptoms including hypotension, chronic arterial hypertension and cardiac rhythm disorder/arrhythmia. An important gene associated with Congenital Hypothyroidism is TPO (thyroid peroxidase), and among its related pathways are Insulin secretion and Glycoprotein hormones. The compounds iodotyrosine and diiodotyrosine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related mouse phenotypes are craniofacial and endocrine/exocrine gland.

Genetics Home Reference:21 Congenital hypothyroidism is a condition that affects infants from birth (congenital) and results from a partial or complete loss of thyroid function (hypothyroidism). The thyroid gland is a butterfly-shaped tissue in the lower neck. It makes iodine-containing hormones that play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism).

Wikipedia:63 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Description from OMIM:46 274900, 274400, 275200, 218700, 607200 274500 more

Aliases & Classifications for Congenital Hypothyroidism

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Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM, 27ICD9CM, 26ICD10 via Orphanet, 35MESH via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
congenital hypothyroidism:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

congenital hypothyroidism 8 63 42 20 22 21 10 44 48 60
cretinism 8 63 21
myxedema, congenital 63 21
ch 63 21
cht 21


External Ids:

Disease Ontology8 DOID:0050328
MeSH34 D003409
NCIt39 C26734
ICD9CM27 243
ICD10 via Orphanet26 E00.1, E00.2, E00.9 E03.0, E03.1, E00.0, more
MESH via Orphanet35 D003409
SNOMED-CT via Orphanet57 190268003

Related Diseases for Congenital Hypothyroidism

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia family:

congenital hypothyroidism Hypothyroidism
Familial Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duox2-Related Congenital Hypothyroidism, Iyd-Related
Congenital Hypothyroidism, Tpo-Related Hypothyroidism, Autoimmune
Transient Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 172)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism31.9TG, TPO, TSHR, NKX2-1
2thyroiditis31.4TG, TPO, TSHR, SERPINA7
3endemic goiter30.7TSHR, TPO, TG
4phenylketonuria30.6G6PD, BTD, ACADM
5goiter30.4PAX8, SLC5A5, NKX2-1, GNAS, SERPINA7, TSHB
6congenital adrenal hyperplasia30.3BTD, CYP21A2, ACADM
7dwarfism30.2POU1F1
8down syndrome30.2TSHR, TPO
9diabetes mellitus30.1G6PD
10graves' disease30.0TSHR, GNAS
11hyperthyroxinemia30.0SERPINA7, TSHR, TPO
12homocystinuria30.0BTD, G6PD
13hyperthyroidism30.0TG, TPO, TSHR, TSHB, SERPINA7, GNAS
14thyrotropin deficiency, isolated29.9POU1F1, TSHB, TPO, TG
15neuroendocrine tumor29.8GNAS, NKX2-1, PAX8
16breast cancer29.8CYP21A2, POU1F1, G6PD
17hepatitis29.8SERPINA7
18autoimmune thyroiditis29.8TPO, TG
19pendred syndrome29.8DUOX2, PAX8, TPO, TG
20multinodular goiter29.8GNAS, TSHR, TPO, TG
21papillary thyroid carcinoma29.8PAX8, TSHR, TPO, TG
22thyroid agenesis29.8TG, TSHR, SERPINA7, PAX8, NKX2-1, FOXE1
23papillary carcinoma29.8GNAS, NKX2-1, DUOX1, PAX8, TSHR, TPO
24congenital heart defect29.8ACADM, CYP21A2, NKX2-5, G6PD
25acromegaly29.8GNAS
26iodine hypothyroidism10.4
27chediak-higashi syndrome10.3
28diabetes mellitus, neonatal, with congenital hypothyroidism10.3
29hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3
30vldlr-associated cerebellar hypoplasia10.2
31cleft palate10.2
32neonatal hypothyroidism10.2
33congenital hypothyroidism, nongoitrous 110.2
34congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies10.2
35infertility10.1
36obesity10.1
37pseudohypoparathyroidism10.1
38central hypothyroidism and testicular enlargement10.1
39idiopathic congenital hypothyroidism10.1
40atherosclerosis10.1
41cerebellar hypoplasia10.1
42rubinstein-taybi syndrome10.1
43klinefelter's syndrome10.1
44maple syrup urine disease10.1
45neonatal diabetes mellitus10.1
46galactosemia10.1
47hypertrichosis10.1
48williams syndrome10.1
49congenital hypothyroidism, nongoitrous 210.1
50rapsn-related congenital myasthenic syndrome10.1

Graphical network of the top 20 diseases related to Congenital Hypothyroidism:



Diseases related to congenital hypothyroidism

Clinical Features for Congenital Hypothyroidism

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

274900,274400,275200,218700,607200,274500

Symptoms:

48 (show all 45)
  • hypotension
  • chronic arterial hypertension
  • cardiac rhythm disorder/arrhythmia
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • intestinal obstruction/ileus
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • functional anomalies of the genital system
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • goiter
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • epiphyseal anomaly
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • hearing loss/hypoacusia/deafness
  • cleft lip and palate
  • coarse face
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • autosomal recessive inheritance
  • sleep and vigilance disorders
  • hypotonia
  • hypothyroidy
  • thyroid anomalies
  • hepatitis/icterus/cholestasis
  • constipation
  • umbilical hernia
  • absent/hypotonic/flaccid abdominal wall muscles
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • face/facial anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • flattened nose
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • cataract/lens opacification
  • anomalies of eyes and vision
  • hypothermia
  • short stature/dwarfism/nanism
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • areflexia/hyporeflexia
  • late puberty/hypogonadism/hypogenitalism
  • abnormal cry/voice/phonation disorder/nasal speech
  • hair and scalp anomalies
  • thick skin/pachydermia/orange skin
  • dry/squaly skin/exfoliation
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Congenital Hypothyroidism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Hypothyroidism

Drug clinical trials:

Search ClinicalTrials for Congenital Hypothyroidism

Search NIH Clinical Center for Congenital Hypothyroidism

Search CenterWatch for Congenital Hypothyroidism

Genetic Tests for Congenital Hypothyroidism

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20GeneTests, 22GTR
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Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism20 22

Anatomical Context for Congenital Hypothyroidism

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32MalaCards
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MalaCards organs/tissues related to Congenital Hypothyroidism:

32
Thyroid, Brain, Testes, Skin, Bone, Kidney, Heart, Pituitary, Tongue, Eye, Endothelial, Cortex, Lung, Retina, Spinal cord, Colon, Liver, Testis, Fetal thyroid

Animal Models for Congenital Hypothyroidism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Hypothyroidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.0NKX2-5, GNAS, FOXE1, PAX8, G6PD, POU1F1
2MP:00053799.8TG, TPO, TSHR, PAX8, GLIS3, POU1F1
3MP:00053769.5GNAS, TG, TPO, TSHR, PAX8, ACADM
4MP:00053789.5POU1F1, TG, NKX2-5, NKX2-1, DUOX2, GNAS
5MP:00107689.3G6PD, NKX2-5, PAX8, NKX2-1, FOXE1, GNAS

Publications for Congenital Hypothyroidism

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Sources:
50PubMed
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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 662)
idTitleAuthorsYear
1
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
2
Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism. (23949896)
2013
3
Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010). (24008435)
2013
4
Difference in the incidence of congenital hypothyroidism among world countries. (24413874)
2013
5
Diseases accompanying congenital hypothyroidism. (24353135)
2013
6
Congenital Hypothyroidism Treatment in Infants: A Comparative Study between Liquid and Tablet Formulations of Levothyroxine. (24247169)
2013
7
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess. (23239635)
2013
8
Congenital von Willebrand's disease and clinical hypothyroidism. (23171382)
2013
9
A retrospective review of newborn screening for congenital hypothyroidism and newborn thyroid disease at a major medical center. (23785061)
2013
10
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. (23457309)
2013
11
Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
2012
12
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. (22898500)
2012
13
Congenital hypothyroidism mutations affect common folding and trafficking in the I+/I^-hydrolase fold proteins. (23035660)
2012
14
Neonatal plasma TSH--estimated upper reference intervals for diagnosis and follow up of congenital hypothyroidism. (21545246)
2011
15
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. (21543982)
2011
16
Prevention of intellectual disability through screening for congenital hypothyroidism: how much and at what level? (21242230)
2011
17
Increased risk of coeliac disease in patients with congenital hypothyroidism. (21757873)
2011
18
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test. (21331666)
2011
19
Time trend and geographic distribution of treated patients with congenital hypothyroidism relative to the number of available endocrinologists in Japan. (20227725)
2010
20
Lingual thyroid as a cause of primary hypothyroidism: congenital hypothyroidism in the neonatal period and beyond. (20356923)
2010
21
Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis. (20150025)
2010
22
Thyroid profile of term appropriate for gestational age neonates in Nigeria: a forerunner to screening for congenital hypothyroidism. (20085966)
2010
23
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. (19858037)
2009
24
A novel presentation of diffuse lung disease caused by congenital hypothyroidism. (19773006)
2009
25
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. (18547957)
2008
26
Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations. (17876604)
2008
27
Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents. (17611907)
2007
28
Seasonal variation in the incidence of congenital hypothyroidism in Isfahan, Iran. (17914523)
2007
29
PHACES syndrome with congenital hypothyroidism. (17351309)
2007
30
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. (16995592)
2006
31
The effect of life-long thyroxine treatment and physical activity on bone mineral density in young adult women with congenital hypothyroidism. (17252693)
2006
32
Functional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distress. (16507635)
2006
33
Clinical presentation of primary congenital hypothyroidism: experience before mass screening. (16351594)
2005
34
Developmental hormonal profiles in rdw rats with congenital hypothyroidism accompanying increased testicular size and infertility in adulthood. (15647620)
2004
35
Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidism. (15367200)
2004
36
A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. (15506679)
2004
37
Central congenital hypothyroidism due to gestational hyperthyroidism: detection where prevention failed. (14671180)
2003
38
Color Doppler ultrasonography: diagnosis of ectopic thyroid gland in patients with congenital hypothyroidism caused by thyroid dysgenesis. (14602741)
2003
39
Final height and pubertal growth in Japanese patients with congenital hypothyroidism detected by neonatal screening. (12856981)
2003
40
The role of hormone analysis in the nosologic diagnosis and in the control of treatment of congenital primary hypothyroidism]. (14524121)
2003
41
Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. (11238503)
2001
42
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? (10610498)
1999
43
Hypomania in a patient with congenital familial hypothyroidism and mild mental retardation. (10489513)
1999
44
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. (9171822)
1997
45
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. (8964831)
1996
46
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. (8104016)
1993
47
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
48
Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. (2733742)
1989
49
Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. (7204885)
1980
50
Letter: Congenital rubella and acquired hypothyroidism secondary to Hashimoto thyroiditis. (946816)
1976

Genetic Variations for Congenital Hypothyroidism

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Expression for genes affiliated with Congenital Hypothyroidism

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Hypothyroidism

Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for genes affiliated with Congenital Hypothyroidism

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4TG, TPO
2
Hide members
10.3TSHB, TSHR
3
Hide members
10.3TPO, IYD, SLC5A5
410.2TSHB, PAX8, GNAS
5
Hide members
10.2TSHB, TSHR, TPO, TG
6
Hide members
9.9IYD, TSHR, TSHB, PAX8, SLC5A5, DUOX2

Compounds for genes affiliated with Congenital Hypothyroidism

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44Novoseek, 24HMDB, 2BitterDB, 11DrugBank, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1iodotyrosine44 2411.7TG, TPO
2diiodotyrosine4410.7TG, TPO
3propylthiouracil44 2 1112.7TG, TPO, TSHR
4amiodarone44 49 28 1113.6SERPINA7, TPO, TG
5perchlorate4410.6TG, TPO, SLC5A5, DUOX2
6forskolin44 49 1112.6NKX2-1, POU1F1, PAX8, TSHR
7estrogen4410.6SERPINA7, TSHB, TSHR, TG
8kaempferol4410.6SLC5A5, TPO
9asparagine4410.6TPO, TSHR, SERPINA7, GNAS
10125i4410.5SLC5A5, SERPINA7, TSHR, TPO, TG
11carbimazole44 1111.5TSHR, TPO
12triiodothyronine4410.5SERPINA7, TSHB, TSHR, TPO, TG
13deoxyribonucleic acid4410.5GNAS, CYP21A2, TSHR
14methimazole44 2 1112.5G6PD, SERPINA7, TSHR, TPO, TG
15sialic acid4410.5GNAS, SERPINA7, TSHR, TG
16agarose4410.5CYP21A2, SERPINA7, TSHR, TPO
17guanine44 11 2412.4TG, TSHR, ACADM, GNAS
18chloramphenicol44 2 1112.4CYP21A2, ACADM, SERPINA7, TSHB, TSHR
19sodium iodide4410.4TG, TPO, TSHR, PAX8, SLC5A5, DUOX2
20iodine44 2411.4SERPINA7, SLC5A5, DUOX2, GNAS, TSHR, TPO
21nadph44 2411.4G6PD, DUOX1, DUOX2, CYP21A2, IYD, TPO
22glutamine4410.4GNAS, G6PD, POU1F1, ACADM, TSHR, TG
23thymidine44 2411.3GNAS, POU1F1, TSHB, TSHR, TG
24progesterone44 59 28 11 2414.3GNAS, NKX2-1, POU1F1, CYP21A2, SERPINA7, TSHR
25acth4410.3GNAS, POU1F1, CYP21A2, SERPINA7, TSHB, TSHR
26aspartate4410.3G6PD, SERPINA7, TSHR, TPO, TG
27steroid4410.3TPO, SERPINA7, CYP21A2, POU1F1, NKX2-1, GNAS
2812-o-tetradecanoylphorbol 13-acetate4410.3POU1F1, CYP21A2, TSHR, TPO
29alanine4410.3GNAS, FOXE1, POU1F1, BTD, SERPINA7, TSHR
30leucine4410.3GNAS, POU1F1, CYP21A2, SERPINA7, TSHR
31glutamate4410.3GNAS, POU1F1, CYP21A2, ACADM, TSHR, TPO
32histidine4410.3GNAS, SERPINA7, TSHR, TPO
33thyroxine44 2411.3G6PD, CYP21A2, PAX8, SERPINA7, TSHB, TSHR
34threonine4410.3GNAS, NKX2-1, CYP21A2, PAX8, SERPINA7, TSHR
35adenylate4410.3GNAS, G6PD, TSHR, TPO, TG
36sodium44 2411.3FOXE1, NKX2-1, DUOX2, CYP21A2, SLC5A5, PAX8
37oxygen44 2411.2GNAS, G6PD, DUOX1, DUOX2, CYP21A2, ACADM
38polysaccharide4410.2GNAS, TSHR, TPO, TG
39glucose4410.2GNAS, G6PD, BTD, CYP21A2, ACADM, SERPINA7
40oligonucleotide4410.2GNAS, NKX2-1, POU1F1, CYP21A2, SLC5A5, ACADM
41lipid4410.1GNAS, G6PD, CYP21A2, ACADM, SERPINA7, TSHR
42arginine4410.1GNAS, POU1F1, BTD, CYP21A2, ACADM, SERPINA7
43ribonucleic acid4410.1CYP21A2, POU1F1, NKX2-1, GNAS, PAX8, SERPINA7
44tyrosine4410.1GNAS, NKX2-1, POU1F1, BTD, CYP21A2, SERPINA7
45retinoic acid44 2411.1NKX2-1, POU1F1, TSHB, TSHR, TPO, TG
46iodide44 2411.1TG, TPO, IYD, TSHR, SERPINA7, PAX8
47testosterone44 59 11 2413.1TG, TPO, SERPINA7, CYP21A2, G6PD
48serine4410.1GNAS, G6PD, NKX2-5, NKX2-1, BTD, CYP21A2
493-methylcrotonyl-coa44 2411.0BTD, ACADM
50h2o24410.0TG, TPO, DUOX2, DUOX1, G6PD

GO Terms for genes affiliated with Congenital Hypothyroidism

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16Gene Ontology
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Biological processes related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cuticle developmentGO:04233510.5DUOX2, DUOX1
2hydrogen peroxide catabolic processGO:04274410.5TPO, DUOX2, DUOX1
3iodide transportGO:01570510.5TG, SLC5A5
4hormone biosynthetic processGO:04244610.4DUOX1, DUOX2, TPO, TG
5thyroid gland developmentGO:03087810.4FOXE1, NKX2-5, NKX2-1, PAX8, TG
6oxidation-reduction processGO:05511410.3G6PD, DUOX1, DUOX2, ACADM
7cellular response to gonadotropin stimulusGO:07137110.3PAX8, SLC5A5
8thyroid hormone generationGO:00659010.2TG, TPO, IYD, SLC5A5, DUOX2, DUOX1
9positive regulation of transcription, DNA-dependentGO:04589310.2FOXE1, NKX2-5, NKX2-1, POU1F1, PAX8
10response to vitamin AGO:03318910.2TSHB, SERPINA7
11negative regulation of transcription from RNA polymerase II promoterGO:00012210.2FOXE1, NKX2-5, NKX2-1, POU1F1, GLIS3
12positive regulation of transcription from RNA polymerase II promoterGO:04594410.1PAX8, GLIS3, POU1F1, NKX2-1, NKX2-5
13small molecule metabolic processGO:04428110.0GNAS, G6PD, BTD, CYP21A2, SLC5A5, ACADM
14anatomical structure morphogenesisGO:00965310.0FOXE1, PAX8, TSHB

Molecular functions related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thyroid-stimulating hormone receptor activityGO:00499610.4PAX8, TSHR
2iodide peroxidase activityGO:00444710.4IYD, TPO
3peroxidase activityGO:00460110.4TPO, DUOX2, DUOX1
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.3NKX2-1, NKX2-5, FOXE1
5NAD(P)H oxidase activityGO:01617410.2DUOX1, DUOX2
6heme bindingGO:02003710.1TPO, CYP21A2, DUOX2, DUOX1
7sequence-specific DNA binding transcription factor activityGO:0037009.8FOXE1, NKX2-5, NKX2-1, POU1F1, GLIS3, PAX8

Products for genes affiliated with Congenital Hypothyroidism

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  • Antibodies
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Sources for Congenital Hypothyroidism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet