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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17GeneCards, 18GeneDecks
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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:000538210.0FOXE1, G6PD, NKX2-5, POU1F1, PAX8, GNAS
2MP:00053799.8GNAS, FOXE1, NKX2-1, DUOX2, POU1F1, GLIS3
3MP:00053769.5TG, GNAS, FOXE1, G6PD, NKX2-5, NKX2-1
4MP:00053789.5DUOX2, NKX2-1, NKX2-5, G6PD, GNAS, POU1F1
5MP:00107689.3GNAS, FOXE1, G6PD, NKX2-5, NKX2-1, POU1F1

Publications for Congenital Hypothyroidism

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50PubMed
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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 662)
idTitleAuthorsYear
1
A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism. (23363888)
2013
2
A Novel, Homozygous c.1502T>G (p.Val501Gly) Mutation in the Thyroid peroxidase Gene in Malaysian Sisters with Congenital Hypothyroidism and Multinodular Goiter. (23737781)
2013
3
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. (23780375)
2013
4
Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. (22953072)
2012
5
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. (23169673)
2012
6
Missed congenital hypothyroidism in an identical twin. (22970836)
2012
7
Impaired neuromotor outcome in school-age children with congenital hypothyroidism receiving early high-dose substitution treatment. (21857388)
2011
8
The role of ultrasonography in primary congenital hypothyroidism. (22973380)
2011
9
Hypertrichosis due to Congenital Hypothyroidism. (21769236)
2011
10
Congenital hypothyroidism: delayed detection after birth and monitoring treatment in the first year of life. (21220141)
2011
11
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (20094846)
2010
12
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. (20122987)
2010
13
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. (20718767)
2010
14
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. (20435718)
2010
15
Screening: Sensitivity versus specificity: neonatal screening for congenital hypothyroidism. (21080544)
2010
16
Neonatal screening for congenital hypothyroidism: a retrospective hospital based study from Bahrain. (20432804)
2010
17
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. (20157192)
2010
18
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. (18698134)
2009
19
Routine renal ultrasounds in children with congenital hypothyroidism: a premature conclusion? (19732600)
2009
20
The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism. (19490661)
2009
21
Diagnostic spectrum of congenital hypothyroidism in Turkish children. (19674358)
2009
22
Papillary carcinoma of the thyroid developed in congenital dyshormonogenetic hypothyroidism without goiter: Diagnosis by FNAB. (19670221)
2009
23
Neonatal screening for congenital hypothyroidism and phenylketonuria in China. (19718537)
2009
24
Persistently raised thyroid stimulating hormone in adequately treated congenital hypothyroidism on long-term follow-up. (18540252)
2008
25
Intellectual outcome, motor skills and BMI of children with congenital hypothyroidism: a population-based study. (18331367)
2008
26
Congenital hypothyroidism, cerebellar atrophy, and the incomplete phenotypic expression of PHACES syndrome. (18250537)
2008
27
Propylthiouracil-induced congenital hypothyroidism upregulates vimentin phosphorylation and depletes antioxidant defenses in immature rat testis. (18316471)
2008
28
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (17374849)
2007
29
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. (17284628)
2007
30
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in QuAcbec. (17504897)
2007
31
Word and face recognition in children with congenital hypothyroidism: an event-related potential study. (16624781)
2006
32
Initially elevated TSH and congenital central hypothyroidism due to a homozygous mutation of the TSH beta subunit gene: case report and review of the literature. (16804796)
2006
33
Congenital hypothyroidism and the second newborn metabolic screening in Colorado, USA. (16509526)
2006
34
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene. (16649969)
2006
35
High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. (15921174)
2005
36
Somatostatin treatment of congenital chylothorax may induce transient hypothyroidism in newborns. (16188789)
2005
37
The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. (15574601)
2004
38
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism. (15171721)
2004
39
Congenital hypothyroidism in Iran. (14510082)
2003
40
Behavioural disorders in adolescents with early-treated congenital hypothyroidism. (14703898)
2003
41
Recombinant human TSH testing is a valuable tool for differential diagnosis of congenital hypothyroidism during L-thyroxine replacement. (12864801)
2003
42
Newborn screening for congenital hypothyroidism in early discharged infants. (15906727)
2003
43
Familial congenital hypothyroidism due to loss of function mutation of the thyrotropin receptor (resistance to thyrotropin)]. (11857915)
2002
44
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? (9917489)
1999
45
Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. (9588493)
1998
46
Hyposialylated thyroglobulin in a patient with congenital goiter and hypothyroidism. (1727828)
1992
47
Circulating thyroid antibodies in congenital hypothyroidism. (1659767)
1991
48
Calcitonin and bone mass status in congenital hypothyroidism. (2108791)
1990
49
Transient congenital hypothyroidism after amniofetography. (7449796)
1980
50
Clinical kernicterus and congenital hypothyroidism. (13493800)
1958

Genetic Variations for Congenital Hypothyroidism

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Expression for genes affiliated with Congenital Hypothyroidism

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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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Sources:
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 2411.7TPO, TG
2diiodotyrosine4410.7TG, TPO
3propylthiouracil44 2 1112.7TPO, TG, TSHR
4amiodarone44 49 28 1113.6SERPINA7, TPO, TG
5perchlorate4410.6DUOX2, TG, TPO, SLC5A5
6forskolin44 49 1112.6TSHR, PAX8, POU1F1, NKX2-1
7estrogen4410.6TG, TSHR, TSHB, SERPINA7
8carbimazole44 1111.6TPO, TSHR
9asparagine4410.6TSHR, SERPINA7, GNAS, TPO
10125i4410.5SERPINA7, SLC5A5, TSHR, TPO, TG
11kaempferol4410.5TPO, SLC5A5
12triiodothyronine4410.5TSHR, TG, SERPINA7, TSHB, TPO
13deoxyribonucleic acid4410.5TSHR, CYP21A2, GNAS
14methimazole44 2 1112.5TSHR, SERPINA7, TPO, G6PD, TG
15sialic acid4410.5SERPINA7, GNAS, TSHR, TG
16agarose4410.5CYP21A2, SERPINA7, TSHR, TPO
17guanine44 11 2412.4ACADM, GNAS, TSHR, TG
18chloramphenicol44 2 1112.4SERPINA7, TSHB, ACADM, CYP21A2, TSHR
19sodium iodide4410.4TPO, TSHR, PAX8, SLC5A5, DUOX2, NKX2-1
20iodine44 2411.4TG, TPO, TSHR, SERPINA7, SLC5A5, DUOX2
21nadph44 2411.4G6PD, DUOX1, CYP21A2, DUOX2, IYD, TPO
22glutamine4410.4GNAS, G6PD, POU1F1, ACADM, TSHR, TG
23thymidine44 2411.3TSHB, GNAS, POU1F1, TSHR, TG
24progesterone44 59 28 11 2414.3GNAS, POU1F1, CYP21A2, SERPINA7, TSHR, NKX2-1
25acth4410.3TSHB, GNAS, TSHR, SERPINA7, CYP21A2, POU1F1
26aspartate4410.3SERPINA7, G6PD, TSHR, TPO, TG
27histidine4410.3SERPINA7, TSHR, GNAS, TPO
28steroid4410.3SERPINA7, POU1F1, NKX2-1, TPO, GNAS, CYP21A2
29alanine4410.3TG, GNAS, POU1F1, BTD, SERPINA7, TSHR
30leucine4410.3POU1F1, CYP21A2, SERPINA7, GNAS, TSHR
31glutamate4410.3TPO, TG, ACADM, TSHR, CYP21A2, GNAS
32thyroxine44 2411.3TSHB, TSHR, SERPINA7, PAX8, CYP21A2, G6PD
33threonine4410.3PAX8, NKX2-1, CYP21A2, SERPINA7, TSHR, GNAS
3412-o-tetradecanoylphorbol 13-acetate4410.3TPO, TSHR, POU1F1, CYP21A2
35adenylate4410.3TG, TPO, TSHR, G6PD, GNAS
36sodium44 2411.3FOXE1, TPO, NKX2-1, CYP21A2, TG, TSHR
37oxygen44 2411.2TPO, ACADM, DUOX1, CYP21A2, DUOX2, G6PD
38polysaccharide4410.2TG, GNAS, TPO, TSHR
39glucose4410.2TSHR, SERPINA7, ACADM, G6PD, CYP21A2, GNAS
40oligonucleotide4410.2TPO, GNAS, POU1F1, NKX2-1, CYP21A2, SLC5A5
41lipid4410.1GNAS, G6PD, CYP21A2, ACADM, SERPINA7, TPO
42arginine4410.1TSHR, SERPINA7, ACADM, TPO, TG, GNAS
43ribonucleic acid4410.1GNAS, NKX2-1, POU1F1, CYP21A2, PAX8, TSHR
44tyrosine4410.1GNAS, TPO, POU1F1, TG, NKX2-1, CYP21A2
45retinoic acid44 2411.1POU1F1, TSHB, TSHR, TPO, NKX2-1, TG
46iodide44 2411.1DUOX2, PAX8, IYD, TSHR, TPO, TG
47testosterone44 59 11 2413.1CYP21A2, SERPINA7, TPO, G6PD, TG
48serine4410.1NKX2-1, TSHR, SERPINA7, CYP21A2, BTD, NKX2-5
493-methylcrotonyl-coa44 2411.0ACADM, BTD
50h2o24410.0G6PD, DUOX1, DUOX2, TPO, TG

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