CH
MCID: CNG006
MIFTS: 64

Congenital Hypothyroidism (CH)

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Hypothyroidism

MalaCards integrated aliases for Congenital Hypothyroidism:

Name: Congenital Hypothyroidism 12 74 52 25 58 29 54 6 43 15 71
Neonatal Hypothyroidism 52
Myxedema, Congenital 71
Congenital Myxedema 25
Endemic Cretinism 71
Cretinism 25
Cht 25
Ch 25

Characteristics:

Orphanet epidemiological data:

58
congenital hypothyroidism
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Congenital Hypothyroidism

Genetics Home Reference : 25 Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). 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). People with congenital hypothyroidism have lower-than-normal levels of these important hormones. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In 80 to 85 percent of cases, the thyroid gland is absent, severely reduced in size (hypoplastic), or abnormally located. These cases are classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or enlarged thyroid gland (goiter) is present, but production of thyroid hormones is decreased or absent. Most of these cases occur when one of several steps in the hormone synthesis process is impaired; these cases are classified as thyroid dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone production is caused by impaired stimulation of the production process (which is normally done by a structure at the base of the brain called the pituitary gland), even though the process itself is unimpaired. These cases are classified as central (or pituitary) hypothyroidism. Signs and symptoms of congenital hypothyroidism result from the shortage of thyroid hormones. Affected babies may show no features of the condition, although some babies with congenital hypothyroidism are less active and sleep more than normal. They may have difficulty feeding and experience constipation. If untreated, congenital hypothyroidism can lead to intellectual disability and slow growth. In the United States and many other countries, all hospitals test newborns for congenital hypothyroidism. If treatment begins in the first two weeks after birth, infants usually develop normally. Congenital hypothyroidism can also occur as part of syndromes that affect other organs and tissues in the body. These forms of the condition are described as syndromic. Some common forms of syndromic hypothyroidism include Pendred syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome.

MalaCards based summary : Congenital Hypothyroidism, also known as neonatal hypothyroidism, is related to diabetes mellitus, neonatal, with congenital hypothyroidism and permanent congenital hypothyroidism. An important gene associated with Congenital Hypothyroidism is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. The drugs Pharmaceutical Solutions and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and brain, and related phenotypes are macroglossia and muscular hypotonia

Disease Ontology : 12 A hypothyroidism that is present at birth.

NIH Rare Diseases : 52 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. In the United States and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening . If untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. If treatment begins in the first month after birth, infants usually develop normally. Treatment involves medication to replace the missing thyroid hormones, such as levothyroxine . Most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. About 15-20% of cases are due to an underlying gene mutation . Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome .

Wikipedia : 74 Congenital hypothyroidism (CH) is thyroid hormone deficiency present at birth. If untreated for several... more...

Related Diseases for Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Rare Adult Hypothyroidism
Transient Congenital Hypothyroidism Rare Hypothyroidism
Primary Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Transient Congenital Hypothyroidism Due to Maternal Factor
Transient Congenital Hypothyroidism Due to Neonatal Factor Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies
Congenital Hypothyroidism Due to Developmental Anomaly

Diseases related to Congenital Hypothyroidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 669)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, neonatal, with congenital hypothyroidism 34.9 GLIS3 FOXE1
2 permanent congenital hypothyroidism 34.6 TPO DUOX2
3 primary congenital hypothyroidism 34.3 TSHR PAX8 NKX2-1 FOXE1
4 transient congenital hypothyroidism 34.3 TSHR TPO DUOX2
5 hypothyroidism, central, with testicular enlargement 33.6 TSHB POU1F1 DUOXA2
6 hypothyroidism, congenital, nongoitrous, 1 33.6 TSHR TG IYD GNAS DUOXA2
7 hypothyroidism, congenital, nongoitrous, 4 33.4 TSHB POU1F1
8 pendred syndrome 33.2 TPO TG SLC5A5 SLC26A7 PAX8 IYD
9 familial thyroid dyshormonogenesis 33.0 TPO TG SLC5A5 IYD DUOXA2 DUOX2
10 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 32.7 TSHR PAX8 NKX2-1 IYD FOXE1 DUOXA2
11 hypothyroidism, congenital, nongoitrous, 2 32.3 TSHR TPO TG SLC5A5 SERPINA7 PAX8
12 thyroid ectopia 32.2 PAX8 NKX2-5
13 athyreosis 31.9 TSHR TG PAX8 NKX2-5 NKX2-1 FOXE1
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.0 TSHR TPO TG
15 mechanical strabismus 30.9 TPO TG
16 thyroid carcinoma 30.9 TSHR TPO TG NKX2-1
17 hashimoto thyroiditis 30.8 TSHR TSHB TPO TG
18 iodine hypothyroidism 30.7 TSHR TPO TG
19 hyperthyroidism 30.5 TSHR TPO TG SERPINA7 GNAS
20 dyshormonogenic goiter 30.5 SLC26A7 IYD DUOXA2 DUOX2
21 neonatal thyrotoxicosis 30.4 TSHR TG
22 thyroid malformation 30.4 PAX8 NKX2-5 NKX2-1 FOXE1
23 adenoma 30.2 TSHR TG POU1F1 GNAS
24 pituitary gland disease 30.2 TSHB POU1F1 GNAS
25 nodular goiter 30.2 TSHR TPO TG SLC5A5
26 thyroiditis 30.2 TSHR TSHB TPO TG SERPINA7 NKX2-1
27 hyperthyroxinemia 30.1 TSHR TPO TG SERPINA7
28 goiter 30.0 TSHR TPO TG SLC5A5 SERPINA7 PAX8
29 myxedema 30.0 TSHR TPO TG SERPINA7
30 graves' disease 30.0 TSHR TPO TG SERPINA7 PAX8 GNAS
31 multinodular goiter 29.9 TSHR TPO TG PAX8 NKX2-1 GNAS
32 graves disease 1 29.9 TSHR TPO TG SLC5A5 SERPINA7
33 papillary carcinoma 29.8 TSHR TPO TG PAX8 NKX2-1 GNAS
34 turner syndrome 29.6 TPO TG SERPINA7
35 endemic goiter 29.6 TSHR TSHB TPO TG SERPINA7 IYD
36 pituitary adenoma 29.6 TSHB POU1F1 GNAS
37 hypothyroidism 29.4 TUBB1 TSHR TSHB TPO TG SLC5A5
38 thyroid gland disease 28.8 TSHR TSHB TPO TG SLC5A5 SERPINA7
39 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.8
40 central congenital hypothyroidism 12.7
41 idiopathic congenital hypothyroidism 12.4
42 congenital hypothyroidism due to developmental anomaly 12.4
43 chediak-higashi syndrome 12.3
44 primary congenital hypothyroidism without thyroid developmental anomaly 12.3
45 genetic transient congenital hypothyroidism 12.2
46 congenital hypothyroidism due to maternal intake of antithyroid drugs 12.2
47 transient congenital hypothyroidism due to maternal factor 12.2
48 transient congenital hypothyroidism due to neonatal factor 12.2
49 congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies 12.2
50 thyroid dyshormonogenesis 1 12.1

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



Diseases related to Congenital Hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

Human phenotypes related to Congenital Hypothyroidism:

58 31 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
4 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
5 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
6 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
7 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
8 prolonged neonatal jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0006579
9 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
10 large posterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0004491
11 thyroid dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008188
12 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
13 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
14 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
15 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
16 sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0000246
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
19 palpebral edema 58 31 frequent (33%) Frequent (79-30%) HP:0100540
20 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
21 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
22 anosmia 58 31 frequent (33%) Frequent (79-30%) HP:0000458
23 hypothermia 58 31 frequent (33%) Frequent (79-30%) HP:0002045
24 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
25 angiokeratoma corporis diffusum 58 31 frequent (33%) Frequent (79-30%) HP:0001071
26 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
27 abnormal hair morphology 31 frequent (33%) HP:0001595
28 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
29 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
30 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
31 arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011675
32 abnormal pericardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001697
33 tracheoesophageal fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0002575
34 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
35 anterior hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000830
36 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
37 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
38 abnormality of epiphysis morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005930
39 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
40 intestinal obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005214
41 goiter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000853
42 oral cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0000202
43 hypotension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002615
44 intellectual disability 58 Frequent (79-30%)
45 abnormality of the face 58 Very frequent (99-80%)
46 abnormality of the eye 58 Occasional (29-5%)
47 abnormality of the eyelid 58 Frequent (79-30%)
48 large fontanelles 58 Very frequent (99-80%)
49 abnormality of the hair 58 Frequent (79-30%)
50 abnormality of the thyroid gland 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 DUOX2 FOXE1 GLIS3 GNAS NKX2-1 NKX2-5
2 growth/size/body region MP:0005378 10.07 DUOX2 DUOXA2 FOXE1 GLIS3 GNAS NKX2-1
3 craniofacial MP:0005382 9.91 DUOXA2 FOXE1 GNAS NKX2-5 PAX8 POU1F1
4 homeostasis/metabolism MP:0005376 9.8 DUOX2 FOXE1 GLIS3 GNAS NKX2-1 NKX2-5
5 hearing/vestibular/ear MP:0005377 9.7 DUOX2 DUOXA2 GNAS PAX8 POU1F1 TPO
6 skeleton MP:0005390 9.32 DUOX2 DUOXA2 GNAS NKX2-1 PAX8 POU1F1

Drugs & Therapeutics for Congenital Hypothyroidism

Drugs for Congenital Hypothyroidism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2
Iodine Approved, Investigational 7553-56-2 807
3 Sodium Pertechnetate Tc 99m
4 Trace Elements
5 Anti-Infective Agents
6 Anti-Infective Agents, Local
7 Nutrients
8 Micronutrients
9 cadexomer iodine
10 Hormones

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Randomized Crossover Trial for the Evaluation of the Possible Effects in the Intestine of Two Different Pharmaceutical Forms of L - Thyroxine in Patients With Primary Acquired Hypothyroidism Unknown status NCT02917863 Phase 4 L-Thyroxine (tablet, per os);L-Thyroxine (oral drops, solution)
2 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
3 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
4 Evaluation of Thyroid Function in Children With Congenital Heart Disease Unknown status NCT03496363
5 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Levothyroxine
6 Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter. Completed NCT00493103
7 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
8 A Study to Measure the Effect of Switching the Salt Supply From Non-iodized to Iodized on Cognitive Development in Ethiopia Completed NCT01349634
9 A Phase I Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron (CYCLOTEC) in Patients With Thyroid Scan Indication Completed NCT02307175
10 Clinical Evaluation of the xMAP® NeoPlex4™ Assay for Detection of T4, TSH, 17-OHP and IRT Using the NeoPlex System Completed NCT01488721
11 Generic vs. Name-Brand Levothyroxine: Assessment of Bioequivalence Using TSH as a Marker in Children With Permanent Hypothyroidism Completed NCT00403390 Brand Name Levothyroxine (Synthroid);Generic formulation of Levothyroxine
12 Phenotype and Genotype Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. The Use of Genetic Analysis in the Early Care of Children With Thyroid Dysgenesis Completed NCT01916018
13 Community Salt Testing and Relation of Iodine Intake to Visual Information Processing of Ethiopian Infants Completed NCT03889431
14 A Prospective Observational Study on Health Effect of Excessive Iodine Exposure in Pregnancy Completed NCT03422406
15 Levothyroxine Treatment and Cardiometabolic Outcomes in Adolescents With Down Syndrome Completed NCT01832753 Levothyroxine
16 The Prevalence of TSH Receptor Mutation Among the Arab Population of Israel Completed NCT00747760
17 Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up. Recruiting NCT02865694
18 Observational Study on the Impact of Iodine Supplementation on Maternal and Child's Thyroid Hormone Homeostasis and on the Child's Psychomotor Development, in the Portuguese Minho Region (IodineMinho) Recruiting NCT04288531
19 Identification of Familial Hypercholesterolemia Amongst Patients With Premature Acute Coronary Syndrome, Follow-up and Treatment Recruiting NCT02870660
20 The Effects of Maternal Exposure to Air Pollution During Pregnancy on Adverse Pregnancy Outcomes Mediated by Inflammatory Cytokine and Hormone Recruiting NCT04215406
21 A Double-blinded Randomised Study of Iodine Supplementation to Lactating Women in an Iodine-sufficient Area in Sweden and Evaluation of Maternal and Neonatal Iodine Levels and Thyroid Function Recruiting NCT02378233
22 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism

Cochrane evidence based reviews: congenital hypothyroidism

Genetic Tests for Congenital Hypothyroidism

Genetic tests related to Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Congenital Hypothyroidism 29

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

40
Thyroid, Testes, Brain, Pituitary, Lung, Bone, Heart

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(show top 50) (show all 3678)
# Title Authors PMID Year
1
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. 61 54
20153805 2010
2
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. 54 61
20187165 2010
3
Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. 61 54
20089614 2010
4
Congenital hypothyroidism and late-onset goiter: identification and characterization of a novel mutation in the sodium/iodide symporter of the proband and family members. 54 61
19916865 2009
5
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis. 61 54
19837936 2009
6
Identification and functional studies of two new dual-oxidase 2 (DUOX2) mutations in a child with congenital hypothyroidism and a eutopic normal-size thyroid gland. 61 54
19789206 2009
7
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. 61 54
19820021 2009
8
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation. 61 54
19509106 2009
9
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children. 54 61
19243353 2009
10
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 54 61
19336474 2009
11
Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. 61 54
19339556 2009
12
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. 61 54
19158199 2009
13
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. 54 61
19542741 2009
14
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia. 61 54
18727713 2009
15
[Updating neonatal neurometabolic screening]. 54 61
19240000 2009
16
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 61 54
18765513 2008
17
New mutation type in pseudohypoparathyroidism type Ia. 61 54
18394017 2008
18
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene. 61 54
19189706 2008
19
Coverage of the Victorian newborn screening programme in 2003: a retrospective population study. 54 61
18557804 2008
20
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. 54 61
18631008 2008
21
A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. 54 61
18426362 2008
22
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. 54 61
17980011 2008
23
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. 61 54
18379122 2008
24
Thyroglobulin and human thyroid cancer. 61 54
18060877 2008
25
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 61 54
18029453 2008
26
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 61 54
18042646 2008
27
Transient congenital hypothyroidism in an iodine-replete area is not related to parental consanguinity, mode of delivery, goitrogens, iodine exposure, or thyrotropin receptor autoantibodies. 54 61
18296902 2008
28
Recurrence of the p.R277X/p.R1511X compound heterozygous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism: haplotype analysis using intragenic thyroglobulin polymorphisms. 61 54
17911408 2007
29
A fast method to detect cell surface expression of thyrotropin receptor (TSHr): the microchip flow cytometry analysis. 61 54
17705697 2007
30
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 61 54
17532758 2007
31
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age. 61 54
17449515 2007
32
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. 54 61
17440044 2007
33
Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant. 61 54
17437516 2007
34
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. 61 54
17374849 2007
35
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. 54 61
17381485 2007
36
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. 54 61
17468187 2007
37
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. 54 61
17082261 2007
38
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. 54 61
17684392 2007
39
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. 61 54
17318017 2007
40
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. 61 54
17199441 2006
41
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. 54 61
17121535 2006
42
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 54 61
16882747 2006
43
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. 54 61
16787990 2006
44
Newborn screening fact sheets. 61 54
16950973 2006
45
Introduction to the newborn screening fact sheets. 54 61
16960984 2006
46
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. 61 54
16995592 2006
47
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. 61 54
16651268 2006
48
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. 61 54
16684826 2006
49
Comprehensive cost-utility analysis of newborn screening strategies. 54 61
16735255 2006
50
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. 61 54
16763387 2006

Variations for Congenital Hypothyroidism

ClinVar genetic disease variations for Congenital Hypothyroidism:

6 (show top 50) (show all 143) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TUBB1 NM_030773.3(TUBB1):c.35del (p.Cys12fs)deletion Pathogenic 586966 rs773248042 20:57594612-57594612 20:59019557-59019557
2 TUBB1 NM_030773.3(TUBB1):c.318C>G (p.Tyr106Ter)SNV Pathogenic 586965 rs560702757 20:57598800-57598800 20:59023745-59023745
3 TUBB1 NM_030773.3(TUBB1):c.479C>T (p.Pro160Leu)SNV Pathogenic 586964 rs759117911 20:57598961-57598961 20:59023906-59023906
4 DUOX2 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)deletion Pathogenic/Likely pathogenic 189229 rs530719719 15:45393426-45393429 15:45101228-45101231
5 SLC26A7 NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter)SNV Likely pathogenic 828176 8:92378817-92378817 8:91366589-91366589
6 TPO NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)SNV Likely pathogenic 374178 rs1057518950 2:1488587-1488587 2:1484815-1484815
7 TSHR NM_000369.2(TSHR):c.1349G>A (p.Arg450His)SNV Conflicting interpretations of pathogenicity 225505 rs189261858 14:81609751-81609751 14:81143407-81143407
8 IYD NM_203395.3(IYD):c.323A>G (p.Asn108Ser)SNV Conflicting interpretations of pathogenicity 355674 rs111758467 6:150710632-150710632 6:150389496-150389496
9 IYD NM_203395.3(IYD):c.745G>A (p.Val249Met)SNV Uncertain significance 355677 rs202223369 6:150719248-150719248 6:150398112-150398112
10 IYD NM_203395.3(IYD):c.*61C>TSNV Uncertain significance 355684 rs886061168 6:150719434-150719434 6:150398298-150398298
11 IYD NM_203395.3(IYD):c.*5770C>TSNV Uncertain significance 355781 rs886061181 6:150725143-150725143 6:150404007-150404007
12 IYD NM_203395.3(IYD):c.*5785dupduplication Uncertain significance 355782 rs761967547 6:150725154-150725155 6:150404018-150404019
13 IYD NM_203395.3(IYD):c.*5934A>TSNV Uncertain significance 355784 rs886061183 6:150725307-150725307 6:150404171-150404171
14 IYD NM_203395.3(IYD):c.*6038C>ASNV Uncertain significance 355786 rs1045009 6:150725411-150725411 6:150404275-150404275
15 IYD NM_203395.3(IYD):c.*6088G>TSNV Uncertain significance 355788 rs779692821 6:150725461-150725461 6:150404325-150404325
16 IYD NM_203395.3(IYD):c.*2886T>CSNV Uncertain significance 355746 rs886061177 6:150722259-150722259 6:150401123-150401123
17 IYD NM_203395.3(IYD):c.*2956A>GSNV Uncertain significance 355747 rs184619278 6:150722329-150722329 6:150401193-150401193
18 IYD NM_203395.3(IYD):c.*3004C>TSNV Uncertain significance 355749 rs117604907 6:150722377-150722377 6:150401241-150401241
19 IYD NM_203395.3(IYD):c.*3140C>TSNV Uncertain significance 355751 rs548496373 6:150722513-150722513 6:150401377-150401377
20 IYD NM_203395.3(IYD):c.*780T>CSNV Uncertain significance 355703 rs769610221 6:150720153-150720153 6:150399017-150399017
21 IYD NM_203395.3(IYD):c.*4849C>TSNV Uncertain significance 355768 rs9397960 6:150724222-150724222 6:150403086-150403086
22 IYD NM_203395.3(IYD):c.*5573A>CSNV Uncertain significance 355777 rs557932026 6:150724946-150724946 6:150403810-150403810
23 IYD NM_203395.3(IYD):c.*5475A>GSNV Uncertain significance 355775 rs143250646 6:150724848-150724848 6:150403712-150403712
24 IYD NM_203395.3(IYD):c.*5657A>GSNV Uncertain significance 355779 rs114182943 6:150725030-150725030 6:150403894-150403894
25 IYD NM_203395.3(IYD):c.*6383A>GSNV Uncertain significance 355792 rs886061185 6:150725756-150725756 6:150404620-150404620
26 IYD NM_203395.2(IYD):c.-113T>GSNV Uncertain significance 355669 rs886061162 6:150690055-150690055 6:150368919-150368919
27 IYD NM_203395.3(IYD):c.*3A>CSNV Uncertain significance 355680 rs886061167 6:150719376-150719376 6:150398240-150398240
28 IYD NM_203395.3(IYD):c.*241G>ASNV Uncertain significance 355688 rs115654530 6:150719614-150719614 6:150398478-150398478
29 IYD NM_203395.3(IYD):c.*1346C>TSNV Uncertain significance 355711 rs117655742 6:150720719-150720719 6:150399583-150399583
30 IYD NM_203395.3(IYD):c.*1673T>CSNV Uncertain significance 355718 rs35209272 6:150721046-150721046 6:150399910-150399910
31 IYD NM_203395.3(IYD):c.*1715G>CSNV Uncertain significance 355722 rs534225787 6:150721088-150721088 6:150399952-150399952
32 IYD NM_203395.3(IYD):c.*1941A>GSNV Uncertain significance 355727 rs372840878 6:150721314-150721314 6:150400178-150400178
33 IYD NM_203395.3(IYD):c.*2272C>TSNV Uncertain significance 355733 rs192634718 6:150721645-150721645 6:150400509-150400509
34 IYD NM_203395.3(IYD):c.*2495C>GSNV Uncertain significance 355739 rs552817305 6:150721868-150721868 6:150400732-150400732
35 PAX8 NM_003466.4(PAX8):c.*2503_*2504dupduplication Uncertain significance 330852 rs751887254 2:113973605-113973606 2:113216028-113216029
36 TPO NM_001206744.2(TPO):c.1566T>A (p.Ala522=)SNV Uncertain significance 331319 rs17091745 2:1488595-1488595 2:1484823-1484823
37 TPO NM_001206744.2(TPO):c.*63dupduplication Uncertain significance 331643 rs749486726 2:1546305-1546306 2:1542533-1542534
38 IYD NM_203395.2(IYD):c.-108C>TSNV Uncertain significance 355670 rs534417519 6:150690060-150690060 6:150368924-150368924
39 IYD NM_203395.2(IYD):c.-104T>ASNV Uncertain significance 355671 rs886061163 6:150690064-150690064 6:150368928-150368928
40 IYD NM_203395.3(IYD):c.628C>T (p.His210Tyr)SNV Uncertain significance 355675 rs886061165 6:150715332-150715332 6:150394196-150394196
41 IYD NM_203395.3(IYD):c.*1701G>ASNV Uncertain significance 355720 rs116064065 6:150721074-150721074 6:150399938-150399938
42 IYD NM_203395.3(IYD):c.*1754G>ASNV Uncertain significance 355723 rs886061173 6:150721127-150721127 6:150399991-150399991
43 IYD NM_203395.3(IYD):c.*1762G>ASNV Uncertain significance 355724 rs80030954 6:150721135-150721135 6:150399999-150399999
44 IYD NM_203395.3(IYD):c.*1970A>GSNV Uncertain significance 355728 rs187327061 6:150721343-150721343 6:150400207-150400207
45 IYD NM_203395.3(IYD):c.*1417T>GSNV Uncertain significance 355713 rs193155130 6:150720790-150720790 6:150399654-150399654
46 IYD NM_203395.3(IYD):c.*2393T>CSNV Uncertain significance 355736 rs886061175 6:150721766-150721766 6:150400630-150400630
47 IYD NM_203395.3(IYD):c.*3094A>GSNV Uncertain significance 355750 rs886061179 6:150722467-150722467 6:150401331-150401331
48 IYD NM_203395.3(IYD):c.*3533C>TSNV Uncertain significance 355754 rs180737071 6:150722906-150722906 6:150401770-150401770
49 IYD NM_203395.3(IYD):c.*4382A>GSNV Uncertain significance 355763 rs568274468 6:150723755-150723755 6:150402619-150402619
50 IYD NM_203395.3(IYD):c.*5127T>CSNV Uncertain significance 355769 rs75737368 6:150724500-150724500 6:150403364-150403364

Copy number variations for Congenital Hypothyroidism from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 225757 7 50314923 50440292 Copy number Congenital hypothyroidism

Expression for Congenital Hypothyroidism

Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for Congenital Hypothyroidism

GO Terms for Congenital Hypothyroidism

Cellular components related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADPH oxidase complex GO:0043020 8.96 DUOX2 DUOX1
2 cell leading edge GO:0031252 8.8 DUOXA2 DUOX2 DUOX1

Biological processes related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 POU1F1 PAX8 NKX2-5 NKX2-1 FOXE1
2 anatomical structure morphogenesis GO:0009653 9.73 TSHB PAX8 FOXE1
3 response to oxidative stress GO:0006979 9.72 TPO DUOX2 DUOX1
4 cellular oxidant detoxification GO:0098869 9.62 TPO IYD DUOX2 DUOX1
5 hydrogen peroxide catabolic process GO:0042744 9.61 TPO DUOX2 DUOX1
6 positive regulation of wound healing GO:0090303 9.57 DUOX2 DUOX1
7 positive regulation of cell motility GO:2000147 9.54 DUOXA2 DUOX2 DUOX1
8 superoxide anion generation GO:0042554 9.52 DUOX2 DUOX1
9 cellular response to gonadotropin stimulus GO:0071371 9.51 SLC5A5 PAX8
10 hydrogen peroxide biosynthetic process GO:0050665 9.49 DUOX2 DUOX1
11 iodide transport GO:0015705 9.48 TG SLC5A5
12 cuticle development GO:0042335 9.46 DUOX2 DUOX1
13 hormone biosynthetic process GO:0042446 9.46 TPO TG DUOX2 DUOX1
14 thyroid hormone metabolic process GO:0042403 9.43 TG IYD DUOX2
15 thyroid gland development GO:0030878 9.43 TG PAX8 NKX2-5 NKX2-1 FOXE1 DUOX2
16 thyroid-stimulating hormone signaling pathway GO:0038194 9.4 TSHR PAX8
17 thyroid hormone generation GO:0006590 9.17 TPO TG SLC5A5 IYD FOXE1 DUOX2

Molecular functions related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 POU1F1 PAX8 NKX2-5 NKX2-1 GLIS3 FOXE1
2 superoxide-generating NADPH oxidase activity GO:0016175 9.37 DUOX2 DUOX1
3 peroxidase activity GO:0004601 9.33 TPO DUOX2 DUOX1
4 NAD(P)H oxidase activity GO:0016174 9.26 DUOX2 DUOX1
5 thyroid-stimulating hormone receptor activity GO:0004996 8.96 TSHR PAX8
6 iodide peroxidase activity GO:0004447 8.62 TPO IYD

Sources for Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....