CH
MCID: CNG006
MIFTS: 72

Congenital Hypothyroidism (CH) malady

Endocrine diseases category

Summaries for Congenital Hypothyroidism

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Sources:
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
See all sources

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
Risk factors for congenital hypothyroidism in Egypt: results of a population case-control study (2003-2010). (23793431)
2013
2
Optimising outcome in congenital hypothyroidism; current opinions on best practice in initial assessment and subsequent management. (23154163)
2013
3
Congenital nephrotic syndrome with hypothyroidism: an unusual association. (24034205)
2013
4
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. (23292166)
2013
5
Congenital hypothyroidism - An usual suspect at an unusual age: A case series. (24251153)
2013
6
Long-term consequences of the early treatment of children with congenital hypothyroidism detected by neonatal screening in Nanjing, China: a 12-year follow-up study. (21296863)
2012
7
High prevalence of congenital hypothyroidism in Isfahan: Do familial components have a role? (23326768)
2012
8
Increasing incidence of congenital hypothyroidism: some answers, more questions. (21816799)
2011
9
Congenital hypothyroidism of dogs and cats: a review. (21541884)
2011
10
Congenital hypothyroidism with severe hypoganglionosis of the colon in a 10 years old girl, a case report. (23409402)
2011
11
Psychological and behavioural aspects in children and adolescents with congenital hypothyroidism diagnosed by neonatal screening: comparison between parents' and children's perceptions. (21098687)
2011
12
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
13
Effect of temperature changes on the occurrence of congenital hypothyroidism. (20956721)
2010
14
Screening for congenital hypothyroidism: the significance of threshold limit in false-negative results. (20591982)
2010
15
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. (20427504)
2010
16
Congenital hypothyroidism in a kitten resulting in decreased IGF-I concentration and abnormal liver function tests. (20223692)
2010
17
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. (20187165)
2010
18
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. (18668261)
2009
19
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. (19534617)
2009
20
Increased prevalence of renal and urinary tract anomalies in children with congenital hypothyroidism. (18823909)
2009
21
Permanent and transient congenital hypothyroidism in Isfahan-Iran. (19349525)
2009
22
Neuro-developmental deficits in early-treated congenital hypothyroidism. (19904446)
2008
23
Clinical description of infants with congenital hypothyroidism and iodide organification defects. (18772598)
2008
24
The implementation of revised guidelines and the performance of a screening programme for congenital hypothyroidism. (18416947)
2008
25
Resetting the detection level of cord blood thyroid stimulating hormone (TSH) for the diagnosis of congenital hypothyroidism. (17878179)
2008
26
Reply on: Congenital hypothyroidism: look at the whole patient! Horm Res 2007;68:276-277. (18493151)
2008
27
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
2007
28
Mental development of infants with congenital hypothyroidism: a longitudinal study. (17164510)
2007
29
Update on the management of congenital hypothyroidism. (18174723)
2007
30
What is your diagnosis? Congenital hypothyroidism. (17199487)
2007
31
Congenital hypothyroidism: from paracelsus to molecular diagnosis. (16730255)
2006
32
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. (17121535)
2006
33
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. (17199441)
2006
34
Precocious puberty with congenital hypothyroidism. (15990731)
2005
35
High prevalence of extrathyroid malformations in a cohort of Brazilian patients with permanent primary congenital hypothyroidism. (15753677)
2005
36
Children with congenital hypothyroidism and their siblings: do they really differ? (15629966)
2005
37
Compound heterozygous and homozygous mutations of the TSHbeta gene as a cause of congenital central hypothyroidism in Europe. (15297803)
2004
38
Genetic analysis of TTF-2 gene in children with congenital hypothyroidism and cleft palate, congenital hypothyroidism, or isolated cleft palate. (15320969)
2004
39
Werdnig-Hoffmann disease with congenital hypothyroidism. (14738578)
2003
40
Identification of novel genes involved in congenital hypothyroidism using serial analysis of gene expression. (14671405)
2003
41
A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy. (12656668)
2003
42
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
43
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. (12110737)
2002
44
Serum lipoproteins and apolipoprotein E in infants with congenital hypothyroidism. (10365572)
1999
45
A case of congenital hypopituitarism: difficulty in the diagnosis of ACTH deficiency due to high serum cortisol levels from a hypothyroid state. (10426585)
1999
46
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor. (10524567)
1999
47
Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones. (8981932)
1996
48
Incidence of transient congenital hypothyroidism due to maternal thyrotropin receptor-blocking antibodies in over one million babies. (8772590)
1996
49
Congenital nephrosis in association with hypothyroidism and hypoadrenocorticism. (8439487)
1993
50
Transient congenital hypothyroidism after topical iodine in pregnancy and lactation. (3566323)
1987

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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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