CH
MCID: CNG006
MIFTS: 69

Congenital Hypothyroidism (CH) malady

Genetic diseases, Rare diseases, Endocrine diseases, Immune diseases categories

Summaries for Congenital Hypothyroidism

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Congenital hypothyroidism is a condition that affects infants from birthĀ 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 disabilityĀ 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 tracheo-esophageal fistula/esophageal atresia/stenosis, intestinal obstruction/ileus and pericardium anomalies/pericarditis/absence/cysts/pericardial effusion. 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, testes and brain, and related mouse phenotypes are endocrine/exocrine gland and growth/size/body.

Genetics Home Reference:22 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:66 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

Description from OMIM:48 275200, 274900, 274500, 607200, 218700 274400 more

Aliases & Classifications for Congenital Hypothyroidism

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 50Orphanet, 63UMLS, 59SNOMED-CT, 48OMIM, 36MeSH, 41NCIt, 28ICD9CM, 27ICD10 via Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
congenital hypothyroidism:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

congenital hypothyroidism 9 66 44 21 23 22 11 46 50 63
cretinism 9 66 22
myxedema, congenital 66 22
ch 66 22
cht 22


External Ids:

Disease Ontology9 DOID:0050328
MeSH36 D003409
NCIt41 C26734
ICD9CM28 243
ICD10 via Orphanet27 E00.1, E00.2, E00.9 E03.0, E03.1, E00.0, more
MESH via Orphanet37 D003409
SNOMED-CT via Orphanet60 190268003
UMLS via Orphanet64 C0010308

Related Diseases for Congenital Hypothyroidism

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18GeneCards, 19GeneDecks
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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 176)
idRelated DiseaseScoreTop Affiliating Genes
1hypothyroidism32.0TPO, TG, NKX2-1
2thyroiditis31.5TG, TPO
3endemic goiter30.9TPO, TG
4goiter30.5TPO, TG, NKX2-1
5thyroid agenesis30.3TG, FOXE1, NKX2-1
6hyperthyroidism30.1TG, TPO
7graves' disease30.1TPO, TG, FOXE1, NKX2-1
8thyrotropin deficiency, isolated30.0TPO, TG
9multinodular goiter30.0TPO, TG
10autoimmune thyroiditis29.9TPO, TG
11papillary carcinoma29.9NKX2-1, TG, TPO
12pendred syndrome29.9DUOX2, TG, TPO
13transient congenital hypothyroidism10.6
14phenylketonuria10.4
15chediak-higashi syndrome10.4
16neonatal hypothyroidism10.3
17diabetes mellitus, neonatal, with congenital hypothyroidism10.3
18hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.3
19vldlr-associated cerebellar hypoplasia10.2
20congenital adrenal hyperplasia10.2
21cleft palate10.2
22congenital hypothyroidism, nongoitrous 110.2
23congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies10.2
24infertility10.2
25down syndrome10.2
26obesity10.2
27pseudohypoparathyroidism10.2
28dwarfism10.2
29phace syndrome10.2
30central hypothyroidism and testicular enlargement10.2
31idiopathic congenital hypothyroidism10.2
32atherosclerosis10.1
33klinefelter's syndrome10.1
34rubinstein-taybi syndrome10.1
35hyperthyroxinemia10.1
36homocystinuria10.1
37maple syrup urine disease10.1
38neonatal diabetes mellitus10.1
39diabetes mellitus10.1
40galactosemia10.1
41hypertrichosis10.1
42williams syndrome10.1
43brain lung thyroid syndrome10.1
44hydrops fetalis10.1
45precocious puberty10.1
46mental retardation10.1
47congenital hypothyroidism, nongoitrous 210.1
48rapsn-related congenital myasthenic syndrome10.1
49congenital hypothyroidism, duox2-related10.1
50congenital hypothyroidism, iyd-related10.1

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



Diseases related to congenital hypothyroidism

Symptoms for Congenital Hypothyroidism

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48OMIM, 50Orphanet
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Clinical features from OMIM:

275200,274900,274500,607200,218700,274400

Symptoms:

50 (show all 45)
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • intestinal obstruction/ileus
  • pericardium anomalies/pericarditis/absence/cysts/pericardial effusion
  • cardiac rhythm disorder/arrhythmia
  • chronic arterial hypertension
  • hypotension
  • 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
  • thyroid anomalies
  • 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
  • ectopic/agenesis/dysgenesis/hypoplastic thyroid
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism21 23

Anatomical Context for Congenital Hypothyroidism

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34MalaCards
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MalaCards organs/tissues related to Congenital Hypothyroidism:

34
Thyroid, Testes, Brain, Skin, Kidney, Bone, Tongue, Eye, Heart, Pituitary, Cortex, Endothelial, Fetal thyroid, Liver, Testis, Spinal cord, Lung, Colon

Animal Models for Congenital Hypothyroidism or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Congenital Hypothyroidism:

38
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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53PubMed
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Articles related to Congenital Hypothyroidism:

(show top 50)    (show all 583)
idTitleAuthorsYear
1
Permanent and transient congenital hypothyroidism in Fayoum, Egypt: a descriptive retrospective study. (23840807)
2013
2
Congenital hypothyroidism after assisted reproductive technology in Japan: comparison between multiples and singletons, 2005-2009. (23402602)
2013
3
Craniofacial and dental manifestations of triple X syndrome associated with congenital hypothyroidism: a case report. (24117978)
2013
4
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. (24174944)
2013
5
Growth and specialized growth charts of children with congenital hypothyroidism detected by neonatal screening in isfahan, iran. (23476799)
2013
6
A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism. (23412856)
2013
7
Diagnosed congenital hypothyroidism with missing follow-up: is it time for a national registry? (23396030)
2012
8
Different aspects of kidney function in well-controlled congenital hypothyroidism. (23261862)
2012
9
Permanent and transient congenital hypothyroidism in preterm infants. (22107264)
2012
10
Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis. (20094846)
2010
11
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism. (20122987)
2010
12
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism. (20718765)
2010
13
Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. (18787501)
2009
14
Neonatal sludge: a finding of congenital hypothyroidism. (21274296)
2009
15
Follow-up study of behavioral development and parenting stress profiles in children with congenital hypothyroidism. (19858037)
2009
16
Decreased parietal cortex activity during mental rotation in children with congenital hypothyroidism. (18698134)
2009
17
Abnormal growth of the corticospinal axons into the lumbar spinal cord of the hyt/hyt mouse with congenital hypothyroidism. (18543337)
2008
18
Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. (18845185)
2008
19
Neuro-developmental deficits in early-treated congenital hypothyroidism. (19904446)
2008
20
Effect of high versus low initial doses of L-thyroxine for congenital hypothyroidism on thyroid function and somatic growth. (18456702)
2008
21
Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism. (18445672)
2008
22
Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey. (18547957)
2008
23
Clinical description of infants with congenital hypothyroidism and iodide organification defects. (18772598)
2008
24
Effects of levothyroxine therapy on left and right ventricular function in neonates with congenital hypothyroidism: a tissue Doppler echocardiography study. (17962990)
2007
25
Biochemical severity of thyroid ectopia in congenital hypothyroidism demonstrates sexual dimorphism. (17218725)
2007
26
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (17374849)
2007
27
Recombinant thyrotropin in the diagnosis of congenital hypothyroidism. (17284628)
2007
28
Thyroxine replacement in an animal model of congenital hypothyroidism. (17445845)
2007
29
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. (16882747)
2006
30
Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province]. (15719039)
2005
31
Genetics of congenital hypothyroidism. (15863666)
2005
32
Precocious puberty with congenital hypothyroidism. (15990731)
2005
33
Twenty years later: a reevaluation of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism. (15329322)
2004
34
Differential effect of fetal, neonatal and treatment variables on neurodevelopment in infants with congenital hypothyroidism. (14646397)
2004
35
Potent thyrotrophin receptor-blocking antibodies: a cause of transient congenital hypothyroidism and delayed thyroid development. (15012609)
2004
36
Children with congenital hypothyroidism are at risk of adult obesity due to early adiposity rebound. (15473876)
2004
37
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. (14725684)
2004
38
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
39
Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism. (11916616)
2002
40
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. (12110737)
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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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 31KEGG, 56Reactome
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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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46Novoseek, 25HMDB, 3BitterDB, 12DrugBank, 52PharmGKB, 30IUPHAR, 62Tocris Bioscience
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Compounds related to Congenital Hypothyroidism according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1iodotyrosine46 2510.8TG, TPO
2diiodotyrosine469.8TPO, TG
3Hydrogen peroxide259.8DUOX2, TPO
4propylthiouracil46 3 1211.8TG, TPO
5gliadin469.8TG, TPO
6chromium469.8TPO, TG
7amiodarone46 52 30 1212.7TG, TPO
8125i469.7TPO, TG
9cardiolipin46 1210.7TG, TPO
10methimazole46 3 1211.7TG, TPO
11selenium46 2510.6TG, TPO
12triiodothyronine469.5TG, TPO
13hydrocortisone46 3 62 1212.5TG, TPO
14perchlorate469.3DUOX2, TG, TPO
15ribonucleic acid469.3NKX2-1, TG, TPO
16iodine46 2510.3DUOX2, TG, TPO
17sodium dodecylsulfate469.2TG, TPO
18nadph46 2510.2TPO, DUOX2, IYD
19h2o2468.9TPO, TG, DUOX2
20sodium iodide468.9TPO, TG, DUOX2, NKX2-1
21sodium46 259.4TPO, TG, DUOX2, FOXE1, NKX2-1
22iodide46 258.9IYD, NKX2-1, FOXE1, DUOX2, TG, TPO

GO Terms for genes affiliated with Congenital Hypothyroidism

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17Gene Ontology
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet