CH
MCID: CNG006
MIFTS: 65

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 75 53 25 59 29 55 6 44 15 72
Neonatal Hypothyroidism 53
Myxedema, Congenital 72
Congenital Myxedema 25
Endemic Cretinism 72
Cretinism 25
Cht 25
Ch 25

Characteristics:

Orphanet epidemiological data:

59
congenital hypothyroidism
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0050328
ICD9CM 35 243
MeSH 44 D003409
SNOMED-CT 68 3614006 75065003
MESH via Orphanet 45 D003409
ICD10 via Orphanet 34 E00.0 E00.1 E00.2 more
UMLS via Orphanet 73 C0010308
Orphanet 59 ORPHA442
UMLS 72 C0010308 C0342200 C1578691

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 hypothyroidism, congenital, nongoitrous, 1 and hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate. An important gene associated with Congenital Hypothyroidism is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and G alpha (s) signalling events. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and brain, and related phenotypes are hypothyroidism and muscular hypotonia

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

NIH Rare Diseases : 53 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 : 75 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... 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 647)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 1 33.2 TSHR GNAS FOXE1
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 32.9 TPO TG FOXE1
3 pendred syndrome 32.7 TPO TG SLC26A4 PAX8 DUOX2
4 hypothyroidism, central, and testicular enlargement 32.3 TSHB DUOXA2 DUOX2 DUOX1
5 familial thyroid dyshormonogenesis 32.3 TPO TG SLC5A5 IYD DUOXA2 DUOX2
6 thyroid ectopia 32.0 PAX8 NKX2-5
7 hypothyroidism, congenital, nongoitrous, 2 32.0 TSHR TG SLC26A4 SERPINA7 PAX8 NKX2-1
8 hypothyroidism, congenital, nongoitrous, 4 31.7 TSHB TPO TG SERPINA7 POU1F1
9 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.8 TSHR TPO TG
10 myxedema 30.5 TSHR TPO TG
11 neonatal thyrotoxicosis 30.3 TSHR PAX8
12 athyreosis 30.3 TSHR TG SLC26A4 PAX8 NKX2-5 NKX2-1
13 hyperthyroxinemia 30.2 TSHR TPO SERPINA7
14 thyroiditis 29.9 TSHR TSHB TPO TG SERPINA7
15 hyperthyroidism 29.8 TSHR TPO TG SERPINA7 GNAS
16 graves disease 1 29.8 TSHR TPO TG SERPINA7
17 nodular goiter 29.8 TSHR TPO TG SLC5A5
18 hashimoto thyroiditis 29.8 TSHR TSHB TPO TG SLC26A4
19 thyroid hormone resistance, generalized, autosomal dominant 29.7 TG SERPINA7
20 papillary carcinoma 29.5 TSHR TPO TG PAX8 NKX2-1
21 graves' disease 29.4 TSHR TPO TG SERPINA7 GNAS
22 endemic goiter 29.3 TSHR TSHB TPO TG SERPINA7
23 dyshormonogenic goiter 29.1 TG SLC26A4 SERPINA7 DUOXA2 DUOX2
24 multinodular goiter 28.4 TSHR TPO TG SLC26A4 PAX8 NKX2-1
25 goiter 27.8 TSHR TPO TG SLC5A5 SLC26A4 SERPINA7
26 thyroid gland disease 26.9 TSHR TSHB TPO TG SLC5A5 SLC26A4
27 hypothyroidism 25.9 TSHR TSHB TPO TG SLC5A5 SLC26A4
28 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.8
29 diabetes mellitus, neonatal, with congenital hypothyroidism 12.7
30 central congenital hypothyroidism 12.7
31 primary congenital hypothyroidism 12.4
32 permanent congenital hypothyroidism 12.4
33 idiopathic congenital hypothyroidism 12.4
34 congenital hypothyroidism due to developmental anomaly 12.4
35 transient congenital hypothyroidism 12.3
36 primary congenital hypothyroidism without thyroid developmental anomaly 12.3
37 chediak-higashi syndrome 12.3
38 genetic transient congenital hypothyroidism 12.2
39 congenital hypothyroidism due to maternal intake of antithyroid drugs 12.2
40 transient congenital hypothyroidism due to maternal factor 12.2
41 transient congenital hypothyroidism due to neonatal factor 12.2
42 congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies 12.2
43 thyroid dyshormonogenesis 1 12.1
44 thyroid dyshormonogenesis 2a 12.0
45 cluster headache 12.0
46 blood group, chido/rodgers system 11.7
47 fetal iodine deficiency disorder 11.7
48 hypothyroidism, congenital, nongoitrous, 3 11.7
49 central hypoventilation syndrome, congenital 11.7
50 macroglossia 11.6

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:

59 32 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
4 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
5 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
6 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
7 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
8 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
9 prolonged neonatal jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0006579
10 large posterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0004491
11 thyroid dysgenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008188
12 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
13 hypothermia 59 32 frequent (33%) Frequent (79-30%) HP:0002045
14 coarse facial features 59 32 frequent (33%) Frequent (79-30%) HP:0000280
15 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
16 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
17 hoarse cry 59 32 frequent (33%) Frequent (79-30%) HP:0001615
18 intellectual disability, severe 59 32 frequent (33%) Frequent (79-30%) HP:0010864
19 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
20 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
21 reduced tendon reflexes 59 32 frequent (33%) Frequent (79-30%) HP:0001315
22 palpebral edema 59 32 frequent (33%) Frequent (79-30%) HP:0100540
23 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
24 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
25 anosmia 59 32 frequent (33%) Frequent (79-30%) HP:0000458
26 angiokeratoma corporis diffusum 59 32 frequent (33%) Frequent (79-30%) HP:0001071
27 abnormal hair morphology 32 frequent (33%) HP:0001595
28 abnormality of epiphysis morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005930
29 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
30 hypotension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002615
31 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
32 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
33 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
34 abnormality of vision 59 32 occasional (7.5%) Occasional (29-5%) HP:0000504
35 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
36 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
37 tracheoesophageal fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0002575
38 anterior hypopituitarism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000830
39 goiter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000853
40 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
41 intestinal obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005214
42 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
43 oral cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0000202
44 intellectual disability 59 Frequent (79-30%)
45 abnormality of the eye 59 Occasional (29-5%)
46 abnormality of the eyelid 59 Frequent (79-30%)
47 abnormality of the face 59 Very frequent (99-80%)
48 large fontanelles 59 Very frequent (99-80%)
49 abnormality of the hair 59 Frequent (79-30%)
50 abnormality of the thyroid gland 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 DUOX2 FOXE1 GLIS3 GNAS NKX2-1 NKX2-5
2 growth/size/body region MP:0005378 10.1 DUOX2 FOXE1 GLIS3 GNAS NKX2-1 NKX2-5
3 homeostasis/metabolism MP:0005376 10 DUOX2 FOXE1 GLIS3 GNAS NKX2-1 NKX2-5
4 craniofacial MP:0005382 9.95 DUOXA2 FOXE1 GNAS NKX2-5 PAX8 POU1F1
5 hearing/vestibular/ear MP:0005377 9.8 DUOX2 GNAS PAX8 POU1F1 SLC26A4 TPO
6 limbs/digits/tail MP:0005371 9.43 DUOXA2 GNAS PAX8 TG TPO TSHR
7 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2 Pharmaceutical Solutions Phase 4
3
Iodine Approved, Investigational 7553-56-2 807
4 Radiopharmaceuticals
5 Sodium Pertechnetate Tc 99m
6 Micronutrients
7 Anti-Infective Agents, Local
8 Nutrients
9 Trace Elements
10 Anti-Infective Agents
11 cadexomer iodine

Interventional clinical trials:

(show all 20)
# 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 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Levothyroxine
5 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
6 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
7 A Study to Measure the Effect of Switching the Salt Supply From Non-iodized to Iodized on Cognitive Development in Ethiopia Completed NCT01349634
8 A Phase I Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron (CYCLOTEC) in Patients With Thyroid Scan Indication Completed NCT02307175
9 Clinical Evaluation of the xMAP® NeoPlex4™ Assay for Detection of T4, TSH, 17-OHP and IRT Using the NeoPlex System Completed NCT01488721
10 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
11 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
12 Community Salt Testing and Relation of Iodine Intake to Visual Information Processing of Ethiopian Infants Completed NCT03889431
13 A Prospective Observational Study on Health Effect of Excessive Iodine Exposure in Pregnancy Completed NCT03422406
14 The Prevalence of TSH Receptor Mutation Among the Arab Population of Israel Completed NCT00747760
15 Developing and Implementing Familial Hypercholesterolemia Registry in Isfahan, Iran: Cascade Screening, Management and Long-term Follow up. Recruiting NCT02865694
16 Identification of Familial Hypercholesterolemia Amongst Patients With Premature Acute Coronary Syndrome, Follow-up and Treatment Recruiting NCT02870660
17 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
18 Levothyroxine Treatment and Cardiometabolic Outcomes in Adolescents With Down Syndrome Active, not recruiting NCT01832753 Levothyroxine
19 Evaluation of Thyroid Function in Children With Congenital Heart Disease Not yet recruiting NCT03496363
20 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:

41
Thyroid, Testes, Brain, Pituitary, Lung, Bone, Heart

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(show top 50) (show all 3582)
# Title Authors PMID Year
1
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations. 9 38
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. 9 38
20187165 2010
3
Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. 9 38
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. 9 38
19916865 2009
5
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis. 9 38
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. 9 38
19789206 2009
7
Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism. 9 38
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. 9 38
19509106 2009
9
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children. 9 38
19243353 2009
10
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. 9 38
19336474 2009
11
Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. 9 38
19339556 2009
12
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study. 9 38
19158199 2009
13
Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. 9 38
19542741 2009
14
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia. 9 38
18727713 2009
15
[Updating neonatal neurometabolic screening]. 9 38
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. 9 38
18765513 2008
17
New mutation type in pseudohypoparathyroidism type Ia. 9 38
18394017 2008
18
Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene. 9 38
19189706 2008
19
Coverage of the Victorian newborn screening programme in 2003: a retrospective population study. 9 38
18557804 2008
20
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations. 9 38
18631008 2008
21
A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter. 9 38
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. 9 38
17980011 2008
23
Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism. 9 38
18379122 2008
24
Thyroglobulin and human thyroid cancer. 9 38
18060877 2008
25
Pseudodominant inheritance of goitrous congenital hypothyroidism caused by TPO mutations: molecular and in silico studies. 9 38
18029453 2008
26
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. 9 38
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. 9 38
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. 9 38
17911408 2007
29
A fast method to detect cell surface expression of thyrotropin receptor (TSHr): the microchip flow cytometry analysis. 9 38
17705697 2007
30
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 9 38
17532758 2007
31
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age. 9 38
17449515 2007
32
Congenital hypothyroidism, dwarfism, and hearing impairment caused by a missense mutation in the mouse dual oxidase 2 gene, Duox2. 9 38
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. 9 38
17437516 2007
34
Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. 9 38
17374849 2007
35
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis. 9 38
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. 9 38
17468187 2007
37
Congenital hypothyroid female pax8-deficient mice are infertile despite thyroid hormone replacement therapy. 9 38
17082261 2007
38
New phenotypes in thyroid dyshormonogenesis: hypothyroidism due to DUOX2 mutations. 9 38
17684392 2007
39
TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. 9 38
17318017 2007
40
A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism. 9 38
17199441 2006
41
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. 9 38
17121535 2006
42
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 9 38
16882747 2006
43
Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. 9 38
16787990 2006
44
Introduction to the newborn screening fact sheets. 9 38
16960984 2006
45
Newborn screening fact sheets. 9 38
16950973 2006
46
Pseudohypoparathyroidism type 1a with congenital hypothyroidism. 9 38
16995592 2006
47
Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. 9 38
16651268 2006
48
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes. 9 38
16684826 2006
49
Comprehensive cost-utility analysis of newborn screening strategies. 9 38
16735255 2006
50
Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. 9 38
16763387 2006

Variations for Congenital Hypothyroidism

ClinVar genetic disease variations for Congenital Hypothyroidism:

6 (show top 50) (show all 380)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TUBB1 NM_030773.3(TUBB1): c.35del (p.Cys12fs) deletion Pathogenic 20:57594612-57594612 20:59019557-59019557
2 TUBB1 NM_030773.3(TUBB1): c.318C> G (p.Tyr106Ter) single nucleotide variant Pathogenic 20:57598800-57598800 20:59023745-59023745
3 TUBB1 NM_030773.3(TUBB1): c.479C> T (p.Pro160Leu) single nucleotide variant Pathogenic 20:57598961-57598961 20:59023906-59023906
4 DUOX2 NM_014080.4(DUOX2): c.2895_2898del (p.Phe966fs) deletion Pathogenic/Likely pathogenic rs530719719 15:45393426-45393429 15:45101228-45101231
5 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 15:45400357-45400357 15:45108159-45108159
6 TPO NM_000547.5(TPO): c.1558C> T (p.His520Tyr) single nucleotide variant Likely pathogenic rs1057518950 2:1488587-1488587 2:1484815-1484815
7 PAX8 NM_013953.4(PAX8): c.777+4961C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377714129 2:113994167-113994167 2:113236590-113236590
8 TPO NM_000547.5(TPO): c.30G> A (p.Thr10=) single nucleotide variant Conflicting interpretations of pathogenicity rs28909989 2:1418210-1418210 2:1414438-1414438
9 DUOX2 NM_014080.4(DUOX2): c.3966C> T (p.Ser1322=) single nucleotide variant Conflicting interpretations of pathogenicity rs61730032 15:45388140-45388140 15:45095942-45095942
10 DUOX2 NM_014080.4(DUOX2): c.2335-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369394906 15:45396566-45396566 15:45104368-45104368
11 DUOX2 NM_014080.4(DUOX2): c.1825C> T (p.Pro609Ser) single nucleotide variant Uncertain significance rs201221237 15:45399036-45399036 15:45106838-45106838
12 DUOX2 NM_014080.4(DUOX2): c.633C> T (p.Phe211=) single nucleotide variant Uncertain significance rs35157799 15:45403664-45403664 15:45111466-45111466
13 DUOX2 NM_014080.4(DUOX2): c.567C> T (p.His189=) single nucleotide variant Uncertain significance rs2467829 15:45403730-45403730 15:45111532-45111532
14 DUOX2 NM_014080.4(DUOX2): c.501C> T (p.Asn167=) single nucleotide variant Uncertain significance rs76681174 15:45403978-45403978 15:45111780-45111780
15 DUOX2 NM_014080.4(DUOX2): c.377C> T (p.Ala126Val) single nucleotide variant Uncertain significance rs768688870 15:45404102-45404102 15:45111904-45111904
16 DUOX2 NM_014080.4(DUOX2): c.326-5C> T single nucleotide variant Uncertain significance rs200837051 15:45404158-45404158 15:45111960-45111960
17 DUOX2 NM_014080.4(DUOX2): c.243G> A (p.Pro81=) single nucleotide variant Uncertain significance rs369158930 15:45404834-45404834 15:45112636-45112636
18 TSHR NM_000369.2(TSHR): c.157A> C (p.Ser53Arg) single nucleotide variant Uncertain significance rs886050853 14:81422181-81422181 14:80955837-80955837
19 TSHR NM_000369.2(TSHR): c.1191G> T (p.Val397=) single nucleotide variant Uncertain significance rs781406064 14:81609593-81609593 14:81143249-81143249
20 TSHR NM_000369.2(TSHR): c.*125A> G single nucleotide variant Uncertain significance rs886050855 14:81610822-81610822 14:81144478-81144478
21 TSHR NM_000369.2(TSHR): c.*137delG deletion Uncertain significance rs886050856 14:81610834-81610834 14:81144490-81144490
22 DUOX2 NM_014080.4(DUOX2): c.-47G> A single nucleotide variant Uncertain significance rs886051200 15:45406203-45406203 15:45114005-45114005
23 TSHR NM_000369.2(TSHR): c.357T> A (p.Pro119=) single nucleotide variant Uncertain significance rs144084915 14:81554337-81554337 14:81087993-81087993
24 TSHR NM_000369.2(TSHR): c.2120G> A (p.Arg707Gln) single nucleotide variant Uncertain significance rs368452281 14:81610522-81610522 14:81144178-81144178
25 TSHR NM_000369.2(TSHR): c.*116G> A single nucleotide variant Uncertain significance rs554104473 14:81610813-81610813 14:81144469-81144469
26 TSHR NM_000369.2(TSHR): c.*400T> C single nucleotide variant Uncertain significance rs143040631 14:81611097-81611097 14:81144753-81144753
27 TSHR NM_000369.2(TSHR): c.*1946C> T single nucleotide variant Uncertain significance rs187891791 14:81612643-81612643 14:81146299-81146299
28 DUOX2 NM_014080.4(DUOX2): c.*624C> T single nucleotide variant Uncertain significance rs143376422 15:45385724-45385724 15:45093526-45093526
29 DUOX2 NM_014080.4(DUOX2): c.4098G> A (p.Pro1366=) single nucleotide variant Uncertain significance rs150609056 15:45387776-45387776 15:45095578-45095578
30 DUOX2 NM_014080.4(DUOX2): c.4036A> G (p.Ile1346Val) single nucleotide variant Uncertain significance rs149848729 15:45388070-45388070 15:45095872-45095872
31 DUOX2 NM_014080.4(DUOX2): c.3820G> A (p.Val1274Met) single nucleotide variant Uncertain significance rs764364832 15:45389463-45389463 15:45097265-45097265
32 DUOX2 NM_014080.4(DUOX2): c.3759G> A (p.Pro1253=) single nucleotide variant Uncertain significance rs140663764 15:45389524-45389524 15:45097326-45097326
33 DUOX2 NM_014080.4(DUOX2): c.3558C> T (p.Thr1186=) single nucleotide variant Uncertain significance rs140393165 15:45390214-45390214 15:45098016-45098016
34 DUOX2 NM_014080.4(DUOX2): c.3232G> A (p.Val1078Met) single nucleotide variant Uncertain significance rs147772932 15:45392043-45392043 15:45099845-45099845
35 DUOX2 NM_014080.4(DUOX2): c.3081G> A (p.Lys1027=) single nucleotide variant Uncertain significance rs78876145 15:45392351-45392351 15:45100153-45100153
36 DUOX2 NM_014080.4(DUOX2): c.3041C> T (p.Ala1014Val) single nucleotide variant Uncertain significance rs144759209 15:45392391-45392391 15:45100193-45100193
37 DUOX2 NM_014080.4(DUOX2): c.2676C> A (p.Asn892Lys) single nucleotide variant Uncertain significance rs144774906 15:45394166-45394166 15:45101968-45101968
38 DUOX2 NM_014080.4(DUOX2): c.2593A> C (p.Thr865Pro) single nucleotide variant Uncertain significance rs886051194 15:45396219-45396219 15:45104021-45104021
39 DUOX2 NM_014080.4(DUOX2): c.2544G> C (p.Leu848=) single nucleotide variant Uncertain significance rs139095108 15:45396354-45396354 15:45104156-45104156
40 DUOX2 NM_014080.4(DUOX2): c.943+10C> A single nucleotide variant Uncertain significance rs545715198 15:45402838-45402838 15:45110640-45110640
41 DUOX2 NM_014080.4(DUOX2): c.533G> T (p.Trp178Leu) single nucleotide variant Uncertain significance rs190660925 15:45403764-45403764 15:45111566-45111566
42 DUOX2 NM_014080.4(DUOX2): c.-46A> G single nucleotide variant Uncertain significance rs886051199 15:45406202-45406202 15:45114004-45114004
43 TSHR NM_000369.2(TSHR): c.*1695T> C single nucleotide variant Uncertain significance rs112187344 14:81612392-81612392 14:81146048-81146048
44 TSHR NM_000369.2(TSHR): c.*1317C> A single nucleotide variant Uncertain significance rs886050859 14:81612014-81612014 14:81145670-81145670
45 TSHR NM_000369.2(TSHR): c.*1898A> G single nucleotide variant Uncertain significance rs886050862 14:81612595-81612595 14:81146251-81146251
46 DUOX2 NM_014080.4(DUOX2): c.*1244T> A single nucleotide variant Uncertain significance rs886051188 15:45385104-45385104 15:45092906-45092906
47 DUOX2 NM_014080.4(DUOX2): c.*227C> T single nucleotide variant Uncertain significance rs754945416 15:45386121-45386121 15:45093923-45093923
48 DUOX2 NM_014080.4(DUOX2): c.3689C> T (p.Ala1230Val) single nucleotide variant Uncertain significance rs557220354 15:45389816-45389816 15:45097618-45097618
49 DUOX2 NM_014080.4(DUOX2): c.3531G> T (p.Gln1177His) single nucleotide variant Uncertain significance rs144254445 15:45390241-45390241 15:45098043-45098043
50 DUOX2 NM_014080.4(DUOX2): c.3518C> T (p.Ser1173Phe) single nucleotide variant Uncertain significance rs148718959 15:45390254-45390254 15:45098056-45098056

Copy number variations for Congenital Hypothyroidism from CNVD:

7
# CNVD ID Chromosom 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 apical plasma membrane GO:0016324 8.92 SLC26A4 GNAS DUOX2 DUOX1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 POU1F1 PAX8 NKX2-5 NKX2-1 FOXE1
2 response to oxidative stress GO:0006979 9.71 TPO DUOX2 DUOX1
3 anatomical structure morphogenesis GO:0009653 9.7 TSHB PAX8 FOXE1
4 cellular oxidant detoxification GO:0098869 9.67 TPO IYD DUOX2 DUOX1
5 hydrogen peroxide catabolic process GO:0042744 9.61 TPO DUOX2 DUOX1
6 pituitary gland development GO:0021983 9.55 POU1F1 NKX2-1
7 thyroid hormone metabolic process GO:0042403 9.5 TG IYD DUOX2
8 hydrogen peroxide biosynthetic process GO:0050665 9.49 DUOX2 DUOX1
9 cellular response to gonadotropin stimulus GO:0071371 9.48 SLC5A5 PAX8
10 cuticle development GO:0042335 9.46 DUOX2 DUOX1
11 hormone biosynthetic process GO:0042446 9.46 TPO TG DUOX2 DUOX1
12 iodide transport GO:0015705 9.43 TG SLC5A5 SLC26A4
13 thyroid gland development GO:0030878 9.43 TG PAX8 NKX2-5 NKX2-1 FOXE1 DUOX2
14 thyroid-stimulating hormone signaling pathway GO:0038194 9.4 TSHR PAX8
15 thyroid hormone generation GO:0006590 9.1 TPO SLC5A5 IYD FOXE1 DUOX2 DUOX1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.77 POU1F1 PAX8 NKX2-5 NKX2-1 FOXE1
2 heme binding GO:0020037 9.58 TPO DUOX2 DUOX1
3 peroxidase activity GO:0004601 9.33 TPO DUOX2 DUOX1
4 NAD(P)H oxidase activity GO:0016174 9.32 DUOX2 DUOX1
5 iodide transmembrane transporter activity GO:0015111 9.26 SLC5A5 SLC26A4
6 thyroid-stimulating hormone receptor activity GO:0004996 8.96 TSHR PAX8
7 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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