CH
MCID: CNG006
MIFTS: 64

Congenital Hypothyroidism (CH) malady

Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases categories
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Summaries for Congenital Hypothyroidism

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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 based summary: Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism and thyroiditis, and has symptoms including An important gene associated with Congenital Hypothyroidism is TPO (thyroid peroxidase), and among its related pathways are Thyroxine (Thyroid Hormone) Production and Insulin secretion. 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 endocrine/exocrine gland and growth/size/body.

Disease Ontology:8 A hypothyroidism that is present at birth.

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

Descriptions from OMIM:46 607200, 225250, 275100, 274400, 614450 609893, 218700, 274900, 275200, 274500 more

Aliases & Classifications for Congenital Hypothyroidism

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Congenital Hypothyroidism, Aliases & Descriptions:

Name: Congenital Hypothyroidism 8 65 42 20 22 21 10 44 62
Cretinism 8 65 21
Myxedema, Congenital 65 21
 
Ch 65 21
Cht 21


Classifications:

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


Related Diseases for Congenital Hypothyroidism

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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
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 173)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism32.1TPO, TG, NKX2-1
2thyroiditis31.7TG, TPO
3endemic goiter31.2TPO, TG
4goiter30.6TPO, TG, NKX2-1
5thyroid agenesis30.4TG, FOXE1, NKX2-1
6thyrotropin deficiency, isolated30.3TPO, TG
7multinodular goiter30.2TPO, TG
8hyperthyroidism30.0TG, TPO
9autoimmune thyroiditis30.0TPO, TG
10papillary carcinoma29.9NKX2-1, TG, TPO
11graves' disease29.9TPO, TG, FOXE1, NKX2-1
12pendred syndrome29.9DUOX2, TG, TPO
13phenylketonuria10.4
14chediak-higashi syndrome10.4
15hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3
16neonatal hypothyroidism10.3
17diabetes mellitus, neonatal, with congenital hypothyroidism10.3
18vldlr-associated cerebellar hypoplasia10.3
19cleft palate10.2
20congenital adrenal hyperplasia10.2
21congenital hypothyroidism, nongoitrous 110.2
22congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies10.2
23subacute thyroiditis10.2TPO, TG
24pernicious anemia10.2TPO, TG
25toxic diffuse goiter10.2TG, TPO
26nontoxic goiter10.2TPO, TG
27plummer's disease10.2TPO, TG
28obesity10.2
29down syndrome10.2
30infertility10.2
31galactosemia10.2
32pseudohypoparathyroidism10.2
33dwarfism10.2
34phace syndrome10.2
35central hypothyroidism and testicular enlargement10.2
36idiopathic congenital hypothyroidism10.2
37myxedema10.2TPO, TG
38thyrotoxicosis10.2TPO, TG
39nodular goiter10.2TPO, TG
40turner syndrome10.2TG, TPO
41papillary thyroid carcinoma10.1TPO, TG
42struma ovarii10.1TG, NKX2-1
43pregnancy loss10.1TG, TPO
44thyroid adenoma10.1TG, TPO
45addison's disease10.1TPO, TG
46atherosclerosis10.1
47bronchitis10.1
48dysequilibrium syndrome10.1
49diabetes mellitus10.1
50hyperthyroxinemia10.1

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



Diseases related to congenital hypothyroidism

Symptoms for Congenital Hypothyroidism

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Clinical features from OMIM:

607200,225250,275100,274400,614450,609893,218700,274900,275200,274500

HPO human phenotypes related to Congenital Hypothyroidism:

(show all 35)
id Description Frequency HPO Source Accession
1 abnormality of the tongue hallmark (90%) HP:0000157
2 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
3 hypothyroidism hallmark (90%) HP:0000821
4 muscular hypotonia hallmark (90%) HP:0001252
5 abnormality of the liver hallmark (90%) HP:0001392
6 umbilical hernia hallmark (90%) HP:0001537
7 constipation hallmark (90%) HP:0002019
8 sleep disturbance hallmark (90%) HP:0002360
9 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
10 sinusitis typical (50%) HP:0000246
11 coarse facial features typical (50%) HP:0000280
12 depressed nasal ridge typical (50%) HP:0000457
13 dry skin typical (50%) HP:0000958
14 thickened skin typical (50%) HP:0001072
15 reduced tendon reflexes typical (50%) HP:0001315
16 abnormality of the voice typical (50%) HP:0001608
17 hypothermia typical (50%) HP:0002045
18 short stature typical (50%) HP:0004322
19 cognitive impairment typical (50%) HP:0100543
20 abnormality of reproductive system physiology occasional (7.5%) HP:0000080
21 oral cleft occasional (7.5%) HP:0000202
22 hearing impairment occasional (7.5%) HP:0000365
23 cataract occasional (7.5%) HP:0000518
24 optic atrophy occasional (7.5%) HP:0000648
25 nephrolithiasis occasional (7.5%) HP:0000787
26 hypertension occasional (7.5%) HP:0000822
27 anterior hypopituitarism occasional (7.5%) HP:0000830
28 goiter occasional (7.5%) HP:0000853
29 abnormality of the pericardium occasional (7.5%) HP:0001697
30 tracheoesophageal fistula occasional (7.5%) HP:0002575
31 hypotension occasional (7.5%) HP:0002615
32 paresthesia occasional (7.5%) HP:0003401
33 intestinal obstruction occasional (7.5%) HP:0005214
34 abnormality of the epiphyses occasional (7.5%) HP:0005930
35 arrhythmia occasional (7.5%) HP:0011675

Drugs & Therapeutics for Congenital Hypothyroidism

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Drug clinical trials:

Search ClinicalTrials for Congenital Hypothyroidism

Search NIH Clinical Center for Congenital Hypothyroidism

Genetic Tests for Congenital Hypothyroidism

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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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MalaCards organs/tissues related to Congenital Hypothyroidism:

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

Animal Models for Congenital Hypothyroidism or affiliated genes

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MGI Mouse Phenotypes related to Congenital Hypothyroidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.6GLIS3, NKX2-1, FOXE1, DUOX2, TG, TPO
2MP:00053787.3GLIS3, NKX2-1, NKX2-5, DUOX2, TG, TPO
3MP:00053766.6TPO, TG, DUOX2, FOXE1, NKX2-5, NKX2-1

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 622)
idTitleAuthorsYear
1
Diagnosis, treatment and outcome of congenital hypothyroidism. (25231444)
2014
2
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. (25403430)
2014
3
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism. (25146893)
2014
4
Earlier re-evaluation may be possible in pediatric patients with eutopic congenital hypothyroidism requiring lower L-thyroxine doses. (25346918)
2014
5
Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification. (25153580)
2014
6
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
2013
7
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. (23402602)
2013
8
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
9
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. (24174944)
2013
10
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. (23476799)
2013
11
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? (23396030)
2012
12
Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
2012
13
Permanent and transient congenital hypothyroidism in preterm infants. (22107264)
2012
14
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (20094846)
2010
15
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. (20122987)
2010
16
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
2010
17
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. (18787501)
2009
18
Neonatal sludge: a finding of congenital hypothyroidism. (21274296)
2009
19
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. (19858037)
2009
20
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. (18698134)
2009
21
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. (18543337)
2008
22
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. (18845185)
2008
23
Neuro-developmental deficits in early-treated congenital hypothyroidism. (19904446)
2008
24
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. (18456702)
2008
25
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. (18445672)
2008
26
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. (17962990)
2007
27
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
2007
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
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (16882747)
2006
31
Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. (15719039)
2005
32
Genetics of congenital hypothyroidism. (15863666)
2005
33
Precocious puberty with congenital hypothyroidism. (15990731)
2005
34
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. (15329322)
2004
35
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
2004
36
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. (15012609)
2004
37
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. (15473876)
2004
38
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. (14725684)
2004
39
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
40
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (11916616)
2002
41
Structural defects of a Pax8 mutant that give rise to congenital hypothyroidism. (10377248)
1999
42
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. (9185526)
1997
43
Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis. (9226207)
1997
44
Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. (8964831)
1996
45
Childhood IQ measurements in infants with transient congenital hypothyroidism. (7586623)
1995
46
RC3/neurogranin structure and expression in the caprine brain in relation to congenital hypothyroidism. (7539519)
1995
47
Transient congenital hypothyroidism due to maternal thyrotrophin binding inhibiting immunoglobulin. (8104016)
1993
48
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
49
Bromide partition test in the evaluation of the blood-cerebrospinal barrier in children with congenital hypothyroidism and central nervous system disease. (1224969)
1975
50
Clinical kernicterus and congenital hypothyroidism. (13493800)
1958

Variations for Congenital Hypothyroidism

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Expression for genes affiliated with Congenital Hypothyroidism

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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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Pathways related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5TG, TPO
2
Show member pathways
8.5IYD, DUOX2, TG, TPO

Compounds for genes affiliated with Congenital Hypothyroidism

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Compounds related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1iodotyrosine44 2410.8TG, TPO
2diiodotyrosine449.8TPO, TG
3Hydrogen peroxide249.8DUOX2, TPO
4propylthiouracil44 2 1111.8TG, TPO
5gliadin449.8TG, TPO
6chromium449.8TPO, TG
7amiodarone44 50 28 1112.7TG, TPO
8125i449.7TPO, TG
9cardiolipin44 1110.7TG, TPO
10methimazole44 2 1111.7TG, TPO
11selenium44 2410.6TG, TPO
12triiodothyronine449.5TG, TPO
13hydrocortisone44 2 61 1112.5TG, TPO
14perchlorate449.3DUOX2, TG, TPO
15ribonucleic acid449.3NKX2-1, TG, TPO
16iodine44 2410.3DUOX2, TG, TPO
17sodium dodecylsulfate449.2TG, TPO
18nadph44 2410.2TPO, DUOX2, IYD
19h2o2448.9TPO, TG, DUOX2
20sodium iodide448.9TPO, TG, DUOX2, NKX2-1
21sodium44 249.4TPO, TG, DUOX2, FOXE1, NKX2-1
22iodide44 248.9IYD, NKX2-1, FOXE1, DUOX2, TG, TPO

GO Terms for genes affiliated with Congenital Hypothyroidism

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Cellular components related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056678.8NKX2-1, NKX2-5, FOXE1

Biological processes related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide catabolic processGO:0427449.5TPO, DUOX2
2hormone biosynthetic processGO:0424469.1TPO, TG, DUOX2
3positive regulation of transcription from RNA polymerase II promoterGO:0459448.8GLIS3, NKX2-1, NKX2-5
4positive regulation of transcription, DNA-templatedGO:0458938.5NKX2-1, NKX2-5, FOXE1
5negative regulation of transcription from RNA polymerase II promoterGO:0001228.4GLIS3, NKX2-1, NKX2-5, FOXE1
6thyroid hormone generationGO:0065908.2IYD, FOXE1, DUOX2, TG, TPO
7thyroid gland developmentGO:0308787.8TG, DUOX2, FOXE1, NKX2-5, NKX2-1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1iodide peroxidase activityGO:0044479.8IYD, TPO
2peroxidase activityGO:0046019.7DUOX2, TPO
3heme bindingGO:0200379.6DUOX2, TPO
4RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.9NKX2-1, NKX2-5, FOXE1
5sequence-specific DNA bindingGO:0435658.7NKX2-1, NKX2-5, FOXE1
6sequence-specific DNA binding transcription factor activityGO:0037008.4FOXE1, NKX2-5, NKX2-1, GLIS3
7DNA bindingGO:0036778.1FOXE1, NKX2-5, NKX2-1, GLIS3

Products for genes affiliated with Congenital Hypothyroidism

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet