CH
MCID: CNG006
MIFTS: 69

Congenital Hypothyroidism (CH) malady

Endocrine category

Summaries for Congenital Hypothyroidism

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 endemic goiter and phenylketonuria, and has symptoms including epiphyseal anomaly, autosomal recessive inheritance and sleep and vigilance disorders. 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 liver, spinal cord and brain, 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:64 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Description from OMIM:47 274900, 274400, 275200, 218700, 607200 274500 more

Aliases & Classifications for Congenital Hypothyroidism

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 47OMIM, 27ICD9CM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital hypothyroidism:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

congenital hypothyroidism 8 64 43 20 22 21 10 45 49 61
cretinism 8 64 21
myxedema, congenital 64 21
ch 64 21
cht 21


External Ids:

Disease Ontology8 DOID:0050328
MeSH35 D003409
NCIt40 C26734
ICD9CM27 243
MESH via Orphanet36 D003409
ICD10 via Orphanet26 E00, E03.0, E03.1
SNOMED-CT via Orphanet58 190268003

Related Diseases for Congenital Hypothyroidism

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Hypothyroidism family:

hypothyroidism familial hypothyroidism
hypothyroidism due to iodide transport defect hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia
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 169)
idRelated DiseaseScoreTop Affiliating Genes
1endemic goiter30.8TSHR, TPO, TG
2phenylketonuria30.6G6PD, BTD, ACADM
3congenital adrenal hyperplasia30.3BTD, CYP21A2, ACADM
4thyroid agenesis30.3TG, TSHR, SERPINA7, PAX8, NKX2-1, FOXE1
5dwarfism30.2POU1F1
6graves' disease30.1TSHR, GNAS
7hyperthyroxinemia30.1SERPINA7, TSHR, TPO
8homocystinuria30.1BTD, G6PD
9precocious puberty30.1GNAS, CYP21A2, TSHR
10thyrotropin deficiency, isolated29.9POU1F1, TSHB, TPO, TG
11short stature29.9CYP21A2, POU1F1, GNAS
12pendred syndrome29.9DUOX2, PAX8, TPO, TG
13multinodular goiter29.9GNAS, TSHR, TPO, TG
14papillary carcinoma29.9GNAS, NKX2-1, DUOX1, PAX8, TSHR, TPO
15acromegaly29.9GNAS
16neonatal hypothyroidism10.9
17transient congenital hypothyroidism10.7
18iodine hypothyroidism10.5
19familial hypothyroidism10.5
20n syndrome10.3
21diabetes mellitus, neonatal, with congenital hypothyroidism10.3
22chediak-higashi syndrome10.3
23cleft palate10.2
24congenital hypothyroidism, nongoitrous 110.2
25vldlr-associated cerebellar hypoplasia10.2
26phace syndrome10.2
27rubinstein-taybi syndrome10.1
28klinefelter's syndrome10.1
29maple syrup urine disease10.1
30neonatal diabetes mellitus10.1
31williams syndrome10.1
32hydrops fetalis10.1
33cleft palate, isolated10.1
34central hypothyroidism and testicular enlargement10.1
35congenital hypothyroidism, nongoitrous 210.1
36congenital hypothyroidism, duox2-related10.1
37congenital hypothyroidism, iyd-related10.1
38congenital hypothyroidism, tpo-related10.1
39congenital hypothyroidism, nongoitrous 410.1
40thyroid dyshormonogenesis 2a10.1
41hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.1
42thyroid dyshormonogenesis 110.1
43thyroxine-binding globulin deficiency10.1
44genetic transient congenital hypothyroidism10.1
45congenital hypothyroidism due to maternal intake of antithyroid drugs10.1
46congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies10.1
47idiopathic congenital hypothyroidism10.1
48atherosclerosis10.1
49congenital rubella10.0
50candidiasis10.0BTD

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



Diseases related to congenital hypothyroidism

Clinical Features for Congenital Hypothyroidism

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

274900,274400,275200,218700,607200,274500

Symptoms:

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

Drugs & Therapeutics for Congenital Hypothyroidism

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism20 22

Anatomical Context for Congenital Hypothyroidism

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Hypothyroidism:

33
Liver, Spinal cord, Brain, Kidney, Lung, Whole blood, Cortex, Retina, Heart, Colon, Thyroid, Adrenal gland, Testis, T cells, B cells, Endothelial, Fetal brain, Cingulate cortex, Fetal liver, Fetal lung, Fetal thyroid, Adrenal cortex, Pituitary

Animal Models for Congenital Hypothyroidism or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Congenital Hypothyroidism

Sources:
51PubMed
See all sources

Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 652)
idTitleAuthorsYear
1
Respiratory insufficiency in a newborn with congenital hypothyroidism due to a new mutation of TTF-1/NKX2.1 gene. (23997037)
2013
2
Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010). (24008435)
2013
3
Difference in the incidence of congenital hypothyroidism among world countries. (24413874)
2013
4
Diseases accompanying congenital hypothyroidism. (24353135)
2013
5
Importance of molecular genetic analysis in the diagnosis and classification of congenital hypothyroidism. (24129411)
2013
6
Generic levothyroxine compared with synthroid in young children with congenital hypothyroidism. (23293325)
2013
7
Sweat Test in Patients with Congenital Primary Hypothyroidism. (24297341)
2013
8
Congenital hypothyroidism - An usual suspect at an unusual age: A case series. (24251153)
2013
9
Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study. (23780375)
2013
10
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? (23396030)
2012
11
Performance metrics after changes in screening protocol for congenital hypothyroidism. (23045555)
2012
12
Neonatal plasma TSH--estimated upper reference intervals for diagnosis and follow up of congenital hypothyroidism. (21545246)
2011
13
Congenital hypothyroidism of dogs and cats: a review. (21541884)
2011
14
Risk factors for neurodevelopmental deficits in congenital hypothyroidism after early substitution treatment. (21467693)
2011
15
Congenital hypothyroidism: analysis of discordant US and scintigraphic findings. (21339351)
2011
16
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
2010
17
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. (20427504)
2010
18
Congenital hypothyroidism--a delayed diagnosis in a neonate. A case report. (19764677)
2009
19
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. (18668261)
2009
20
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. (19534617)
2009
21
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. (18823909)
2009
22
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (18042646)
2008
23
Thyroxine replacement in an animal model of congenital hypothyroidism. (17445845)
2007
24
Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism. (17468187)
2007
25
Concentrations of organochlorine pollutants in mothers who gave birth to neonates with congenital hypothyroidism. (17307219)
2007
26
What is your diagnosis? Congenital hypothyroidism. (17199487)
2007
27
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. (17440044)
2007
28
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. (17121535)
2006
29
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. (16763387)
2006
30
Genetics of congenital hypothyroidism. (15863666)
2005
31
Clinical presentation of primary congenital hypothyroidism: experience before mass screening. (16351594)
2005
32
Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. (16417691)
2005
33
Children with congenital hypothyroidism and their siblings: do they really differ? (15629966)
2005
34
Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003). (16322381)
2005
35
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. (15329322)
2004
36
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
2004
37
The use of L-T4 as liquid solution improves the practicability and individualized dosage in newborns and infants with congenital hypothyroidism. (15301044)
2004
38
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. (15611820)
2004
39
Developmental hormonal profiles in rdw rats with congenital hypothyroidism accompanying increased testicular size and infertility in adulthood. (15647620)
2004
40
Multivariate analysis on factors affecting suppression of thyroid-stimulating hormone in treated congenital hypothyroidism. (15499223)
2004
41
Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. (14671405)
2003
42
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668)
2003
43
Screening for congenital hypothyroidism--a new era in Bangladesh. (15906726)
2003
44
Recent advances in understanding the molecular basis of primary congenital hypothyroidism. (10637573)
2000
45
Congenital hypothyroidism and nonimmune hydrops fetalis: associated? (10610498)
1999
46
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. (9185526)
1997
47
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter. (9171822)
1997
48
Craniofacial anomalies, severe cerebellar hypoplasia, psychomotor and growth delay in a child with congenital hypothyroidism. (9354849)
1997
49
Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. (8772590)
1996
50
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. (8320710)
1993

Genetic Variations for Congenital Hypothyroidism

Expression for genes affiliated with Congenital Hypothyroidism

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

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

Sources:
45Novoseek, 24HMDB, 2BitterDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1iodotyrosine45 2411.7TG, TPO
2diiodotyrosine4510.7TG, TPO
3propylthiouracil45 2 1112.7TG, TPO, TSHR
4amiodarone45 50 29 1113.6SERPINA7, TPO, TG
5perchlorate4510.6TG, TPO, SLC5A5, DUOX2
6forskolin45 50 1112.6NKX2-1, POU1F1, PAX8, TSHR
7estrogen4510.6SERPINA7, TSHB, TSHR, TG
8kaempferol4510.6SLC5A5, TPO
9asparagine4510.6TPO, TSHR, SERPINA7, GNAS
10125i4510.5SLC5A5, SERPINA7, TSHR, TPO, TG
11carbimazole45 1111.5TSHR, TPO
12triiodothyronine4510.5SERPINA7, TSHB, TSHR, TPO, TG
13deoxyribonucleic acid4510.5GNAS, CYP21A2, TSHR
14methimazole45 2 1112.5G6PD, SERPINA7, TSHR, TPO, TG
15sialic acid4510.5GNAS, SERPINA7, TSHR, TG
16agarose4510.5CYP21A2, SERPINA7, TSHR, TPO
17guanine45 11 2412.4TG, TSHR, ACADM, GNAS
18chloramphenicol45 2 1112.4CYP21A2, ACADM, SERPINA7, TSHB, TSHR
19sodium iodide4510.4TG, TPO, TSHR, PAX8, SLC5A5, DUOX2
20iodine45 2411.4SERPINA7, SLC5A5, DUOX2, GNAS, TSHR, TPO
21nadph45 2411.4G6PD, DUOX1, DUOX2, CYP21A2, IYD, TPO
22glutamine4510.4GNAS, G6PD, POU1F1, ACADM, TSHR, TG
23thymidine45 2411.3GNAS, POU1F1, TSHB, TSHR, TG
24progesterone45 60 29 11 2414.3GNAS, NKX2-1, POU1F1, CYP21A2, SERPINA7, TSHR
25acth4510.3GNAS, POU1F1, CYP21A2, SERPINA7, TSHB, TSHR
26aspartate4510.3G6PD, SERPINA7, TSHR, TPO, TG
27steroid4510.3TPO, SERPINA7, CYP21A2, POU1F1, NKX2-1, GNAS
2812-o-tetradecanoylphorbol 13-acetate4510.3POU1F1, CYP21A2, TSHR, TPO
29alanine4510.3GNAS, FOXE1, POU1F1, BTD, SERPINA7, TSHR
30leucine4510.3GNAS, POU1F1, CYP21A2, SERPINA7, TSHR
31glutamate4510.3GNAS, POU1F1, CYP21A2, ACADM, TSHR, TPO
32histidine4510.3GNAS, SERPINA7, TSHR, TPO
33thyroxine45 2411.3G6PD, CYP21A2, PAX8, SERPINA7, TSHB, TSHR
34threonine4510.3GNAS, NKX2-1, CYP21A2, PAX8, SERPINA7, TSHR
35adenylate4510.3GNAS, G6PD, TSHR, TPO, TG
36sodium45 2411.3FOXE1, NKX2-1, DUOX2, CYP21A2, SLC5A5, PAX8
37oxygen45 2411.2GNAS, G6PD, DUOX1, DUOX2, CYP21A2, ACADM
38polysaccharide4510.2GNAS, TSHR, TPO, TG
39glucose4510.2GNAS, G6PD, BTD, CYP21A2, ACADM, SERPINA7
40oligonucleotide4510.2GNAS, NKX2-1, POU1F1, CYP21A2, SLC5A5, ACADM
41lipid4510.1GNAS, G6PD, CYP21A2, ACADM, SERPINA7, TSHR
42arginine4510.1GNAS, POU1F1, BTD, CYP21A2, ACADM, SERPINA7
43ribonucleic acid4510.1CYP21A2, POU1F1, NKX2-1, GNAS, PAX8, SERPINA7
44tyrosine4510.1GNAS, NKX2-1, POU1F1, BTD, CYP21A2, SERPINA7
45retinoic acid45 2411.1NKX2-1, POU1F1, TSHB, TSHR, TPO, TG
46iodide45 2411.1TG, TPO, IYD, TSHR, SERPINA7, PAX8
47testosterone45 60 11 2413.1TG, TPO, SERPINA7, CYP21A2, G6PD
48serine4510.1GNAS, G6PD, NKX2-5, NKX2-1, BTD, CYP21A2
493-methylcrotonyl-coa45 2411.0BTD, ACADM
50h2o24510.0TG, TPO, DUOX2, DUOX1, G6PD

GO Terms for genes affiliated with Congenital Hypothyroidism

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Hypothyroidism

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet