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MCID: CNG006
MIFTS: 59

Congenital Hypothyroidism

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Congenital Hypothyroidism

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MalaCards integrated aliases for Congenital Hypothyroidism:

Name: Congenital Hypothyroidism 12 77 54 26 30 56 6 45 15 74
Neonatal Hypothyroidism 54
Myxedema, Congenital 74
Congenital Myxedema 26
Endemic Cretinism 74
Cretinism 26
Cht 26
Ch 26

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Congenital Hypothyroidism

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NIH Rare Diseases : 54 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 genemutation. Rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome.

MalaCards based summary : Congenital Hypothyroidism, also known as neonatal hypothyroidism, is related to hypothyroidism, congenital, nongoitrous, 1 and hypothyroidism, congenital, nongoitrous, 2. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and G alpha (s) signalling events. The drugs Pharmaceutical Solutions and Hormones have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are hypothyroidism and muscular hypotonia

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

Genetics Home Reference : 26 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.

Wikipedia : 77 Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth.... more...

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Related Diseases for Congenital Hypothyroidism

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Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect 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 Tsh-Binding Inhibitory Antibodies

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

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 1 33.2 FOXE1 GNAS TSHR
2 hypothyroidism, congenital, nongoitrous, 2 32.7 FOXE1 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
3 hypothyroidism, central, and testicular enlargement 32.6 DUOX1 DUOX2 DUOXA2 TSHB
4 pendred syndrome 32.2 DUOX2 PAX8 SLC26A4 TG TPO
5 hypothyroidism, congenital, nongoitrous, 4 31.8 POU1F1 SERPINA7 TG TPO TSHB
6 thyroid ectopia 31.5 NKX2-5 PAX8
7 familial thyroid dyshormonogenesis 31.0 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
8 myxedema 30.7 TG TPO TSHR
9 endemic goiter 30.6 SERPINA7 TG TPO TSHB TSHR
10 athyreosis 30.5 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
11 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 30.5 FOXE1 TG TPO
12 hyperthyroxinemia 29.9 SERPINA7 TPO TSHR
13 hyperthyroidism 29.9 GNAS SERPINA7 TG TPO TSHR
14 graves disease 1 29.8 SERPINA7 TG TPO TSHR
15 papillary carcinoma 29.7 NKX2-1 PAX8 TG TPO TSHR
16 graves' disease 29.5 GNAS SERPINA7 TG TPO TSHR
17 thyroiditis 29.4 SERPINA7 TG TPO TSHB TSHR
18 hypothyroidism 29.2 DUOX2 DUOXA2 FOXE1 GLIS3 GNAS IYD
19 multinodular goiter 29.1 GNAS NKX2-1 PAX8 SLC26A4 TG TPO
20 goiter 29.0 DUOXA2 GNAS IYD NKX2-1 PAX8 SERPINA7
21 thyroid cancer 28.4 DUOX1 FOXE1 GNAS NKX2-1 PAX8 SLC26A4
22 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.6
23 diabetes mellitus, neonatal, with congenital hypothyroidism 12.6
24 central congenital hypothyroidism 12.4
25 idiopathic congenital hypothyroidism 12.2
26 genetic transient congenital hypothyroidism 12.1
27 congenital hypothyroidism due to maternal intake of antithyroid drugs 12.1
28 congenital hypothyroidism due to transplacental passage of tsh-binding inhibitory antibodies 12.1
29 thyroid dyshormonogenesis 1 12.0
30 chediak-higashi syndrome 11.9
31 thyroid dyshormonogenesis 2a 11.9
32 fetal iodine deficiency disorder 11.6
33 thyroid dyshormonogenesis 6 11.6
34 blood group, chido/rodgers system 11.6
35 bamforth syndrome 11.6
36 central hypoventilation syndrome, congenital 11.6
37 kocher-debre-semelaigne syndrome 11.5
38 cyclic neutropenia 11.4
39 cluster headache 11.4
40 thyroid dyshormonogenesis 5 11.4
41 hypothyroidism, congenital, nongoitrous, 3 11.4
42 hypothyroidism, congenital, nongoitrous, 5 11.4
43 hypothyroidism, congenital, nongoitrous, 6 11.4
44 cluster headache, familial 11.2
45 undifferentiated pleomorphic sarcoma 11.2
46 macroglossia 11.2
47 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.1
48 thyroid dyshormonogenesis 3 11.1
49 thyroid dyshormonogenesis 4 11.1
50 thyroid-stimulating hormone level quantitative trait locus 1 11.0

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



Diseases related to Congenital Hypothyroidism
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Symptoms & Phenotypes for Congenital Hypothyroidism

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Human phenotypes related to Congenital Hypothyroidism:

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

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

47
# 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
Sources

Drugs & Therapeutics for Congenital Hypothyroidism

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Hormones Phase 4,Phase 3
3
Flutamide Approved, Investigational Phase 3 13311-84-7 3397
4
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
5
Fluorouracil Approved Phase 3 51-21-8 3385
6 Luteolytic Agents Phase 3
7 Triptorelin Pamoate Phase 3
8 Antineoplastic Agents, Hormonal Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Contraceptive Agents Phase 3
12 Androgens Phase 3
13 Androgen Antagonists Phase 3
14 Immunologic Factors Phase 3
15 Cola Phase 3
16 Immunosuppressive Agents Phase 3
17 Antimetabolites, Antineoplastic Phase 3
18 Antimetabolites Phase 3
19
Iodine Approved, Investigational ,Not Applicable 7553-56-2 807
20
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
21
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
22 cadexomer iodine ,Not Applicable
23 Radiopharmaceuticals
24 Sodium Pertechnetate Tc 99m
25 Micronutrients Not Applicable
26 Antioxidants Not Applicable
27 Trace Elements Not Applicable
28 Protective Agents Not Applicable
29 Nutrients Not Applicable

Interventional clinical trials:

(show all 19)
# 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 Triptorelin, Flutamide, and External-Beam Radiation Therapy or External-Beam Radiation Therapy Alone in Treating Patients With Stage II or Stage III Prostate Cancer Unknown status NCT00104741 Phase 3 flutamide;triptorelin
3 Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Recruiting NCT02355379 Phase 3 LV5FU2 or capectitabine;FOLFOX4 or XELOX;LV5FU2 or capecitabine
4 Neoadjuvant Treatment for Advanced Rectal Carcinoma Recruiting NCT02551237 Phase 3 Capecitabine
5 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
6 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
7 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Completed NCT01916018 Not Applicable
8 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Not Applicable Levothyroxine
9 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
10 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
11 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Not Applicable Brand Name Levothyroxine (Synthroid);Generic formulation of Levothyroxine
12 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Completed NCT02307175
13 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634 Not Applicable
14 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
15 Selenium Supplementation in Pregnancy Completed NCT01465867 Not Applicable
16 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Recruiting NCT03309228
17 Hypothyroidism With Congenital Heart Disease (CHD) Not yet recruiting NCT03496363
18 Epileptiform Activity During REM Sleep in Alzheimer's Disease Not yet recruiting NCT03923569 Not Applicable
19 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

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Genetic Tests for Congenital Hypothyroidism

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Genetic tests related to Congenital Hypothyroidism:

# Genetic test Affiliating Genes
1 Congenital Hypothyroidism 30
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Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

42
Thyroid, Brain, Testes, Heart, Bone, Pituitary, Kidney
Sources

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50) (show all 1760)
# Title Authors Year
1
Generation and characterization of monoclonal antibodies against thyroid-stimulating hormone for newborn screening of congenital hypothyroidism. ( 31043143 )
2019
2
DUOX2/DUOXA2 mutations frequently cause congenital hypothyroidism which evades detection on UK newborn screening. ( 31044655 )
2019
3
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population. ( 31061744 )
2019
4
Newborn Screening for Congenital Hypothyroidism in India: Let's Just Do It! ( 31064892 )
2019
5
An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi. ( 31064895 )
2019
6
Congenital Hypothyroidism in Preterm Newborns: A Retrospective Study Arising from a Screening Program in Fars Province, Southwestern Iran. ( 31110637 )
2019
7
Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study. ( 29540462 )
2019
8
Cyclic alternating pattern in infants with congenital hypothyroidism. ( 30037585 )
2019
9
CONGENITAL HYPOTHYROIDISM AS A RISK FACTOR FOR CENTRAL HEARING PROCESS DISORDERS. ( 30183803 )
2019
10
Normative Data for Thyroid Stimulating Hormone for Screening of Congenital Hypothyroidism: Correspondence. ( 30338455 )
2019
11
Hepatic Hemangioendothelioma: A Rare Cause of Congenital Hypothyroidism. ( 30370481 )
2019
12
Congenital Hypothyroidism due to Oligogenic Mutations in Two Sudanese Families. ( 30375286 )
2019
13
Thyroid scintigraphy in three-year-old children with congenital hypothyroidism in correlation with neonatal TSH. ( 30450534 )
2019
14
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation. ( 30529133 )
2019
15
The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program. ( 30630811 )
2019
16
An exonic splicing enhancer mutation in DUOX2 causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs. ( 30651277 )
2019
17
Determining the TSH reference range in national newborn screening program for congenital hypothyroidism. ( 30700177 )
2019
18
Zebrafish duox mutations provide a model for human congenital hypothyroidism. ( 30700401 )
2019
19
Supratherapeutic maternal iodine supplementation during pregnancy as a cause for congenital hypothyroidism. ( 30746884 )
2019
20
Novel non-synonymous mutations of PAX8 in a cohort of chinese with congenital hypothyroidism. ( 30888984 )
2019
21
Cochlear dysfunction evidenced by reduction of amplitude of otoacoustic responses in patients with congenital hypothyroidism. ( 30928865 )
2019
22
Congenital Hypothyroidism is Associated With Impairment of the Leptin Signaling Pathway in the Hypothalamus in Male Wistar Animals in Adult Life. ( 30943548 )
2019
23
Interactive Effects of Exercise, Sex Hormones, and Transient Congenital Hypothyroidism on Long-Term Potentiation in Hippocampal Slices of Rat Offspring. ( 31031899 )
2019
24
Developmental Screening of Children with Congenital Hypothyroidism Using Ages and Stages Questionnaires Test. ( 31037087 )
2019
25
Transient neonatal hypothyroidism following a short course of maternal amiodarone therapy. ( 31085747 )
2019
26
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
27
Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism. ( 28952455 )
2018
28
Vocal Evaluation of Children with Congenital Hypothyroidism. ( 28986152 )
2018
29
Dyskeratosis congenita associated with congenital hypothyroidism. ( 29058334 )
2018
30
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
31
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
32
Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism. ( 29325045 )
2018
33
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
34
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
35
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
36
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis. ( 29380252 )
2018
37
Congenital Hypothyroidism. ( 29405999 )
2018
38
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
39
Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part II: Imaging, Treatment and Follow-up. ( 29455331 )
2018
40
Normative Data for Thyroid Stimulating Hormone for Screening of Congenital Hypothyroidism. ( 29479653 )
2018
41
Genetics of Primary Congenital Hypothyroidism. ( 29493125 )
2018
42
Treatment of congenital hypothyroidism in a newborn with malabsorption after subtotal ileum resection. ( 29497539 )
2018
43
Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study ( 29500308 )
2018
44
Prevention of Neurocognitive Impairment in Children Through Newborn Screening for Congenital Hypothyroidism. ( 29503268 )
2018
45
Assessment of knowledge, attitudes and practices towards newborn screening for congenital hypothyroidism before and after a health education intervention in pregnant women in a hospital setting in Pakistan. ( 29528401 )
2018
46
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. ( 29546359 )
2018
47
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. ( 29549556 )
2018
48
Parenting styles and coping strategies among patients with early detected and treated congenital hypothyroidism. ( 29557609 )
2018
49
Risk factors associated with congenital hypothyroidism: a case-control study in southeast Iran. ( 29629049 )
2018
50
The Effects of De-Whiskering and Congenital Hypothyroidism on The Development of Nitrergic Neurons in Rat Primary Somatosensory and Motor Cortices. ( 29633592 )
2018
Sources

Variations for Congenital Hypothyroidism

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ClinVar genetic disease variations for Congenital Hypothyroidism:

6 (show top 50) (show all 771)
# Gene Variation Type Significance SNP ID Assembly Location
1 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh37 Chromosome 2, 1507728: 1507728
2 TPO NM_000547.5(TPO): c.2395G> A (p.Glu799Lys) single nucleotide variant Pathogenic rs121908085 GRCh38 Chromosome 2, 1503956: 1503956
3 TSHR NM_000369.2(TSHR): c.106G> C (p.Asp36His) single nucleotide variant Benign/Likely benign rs61747482 GRCh37 Chromosome 14, 81422130: 81422130
4 TSHR NM_000369.2(TSHR): c.106G> C (p.Asp36His) single nucleotide variant Benign/Likely benign rs61747482 GRCh38 Chromosome 14, 80955786: 80955786
5 TSHR NM_000369.2(TSHR): c.1637G> A (p.Trp546Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121908866 GRCh37 Chromosome 14, 81610039: 81610039
6 TSHR NM_000369.2(TSHR): c.1637G> A (p.Trp546Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs121908866 GRCh38 Chromosome 14, 81143695: 81143695
7 TSHR NM_000369.2(TSHR): c.1657G> A (p.Ala553Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121908872 GRCh37 Chromosome 14, 81610059: 81610059
8 TSHR NM_000369.2(TSHR): c.1657G> A (p.Ala553Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs121908872 GRCh38 Chromosome 14, 81143715: 81143715
9 TPO NM_000547.5(TPO): c.2488G> A (p.Glu830Lys) single nucleotide variant Uncertain significance rs145974595 GRCh37 Chromosome 2, 1507821: 1507821
10 TPO NM_000547.5(TPO): c.2488G> A (p.Glu830Lys) single nucleotide variant Uncertain significance rs145974595 GRCh38 Chromosome 2, 1504049: 1504049
11 TPO NM_000547.5(TPO): c.2488G> A (p.Glu830Lys) single nucleotide variant Uncertain significance rs145974595 NCBI36 Chromosome 2, 1486828: 1486828
12 TSHR NM_000369.2(TSHR): c.154C> A (p.Pro52Thr) single nucleotide variant Benign/Likely benign rs2234919 GRCh37 Chromosome 14, 81422178: 81422178
13 TSHR NM_000369.2(TSHR): c.154C> A (p.Pro52Thr) single nucleotide variant Benign/Likely benign rs2234919 GRCh38 Chromosome 14, 80955834: 80955834
14 TSHR NM_000369.2(TSHR): c.2232C> G (p.Asn744Lys) single nucleotide variant Likely benign rs61743974 GRCh37 Chromosome 14, 81610634: 81610634
15 TSHR NM_000369.2(TSHR): c.2232C> G (p.Asn744Lys) single nucleotide variant Likely benign rs61743974 GRCh38 Chromosome 14, 81144290: 81144290
16 TSHR NM_000369.2(TSHR): c.2161G> T (p.Val721Phe) single nucleotide variant Uncertain significance rs61745409 GRCh38 Chromosome 14, 81144219: 81144219
17 TSHR NM_000369.2(TSHR): c.2161G> T (p.Val721Phe) single nucleotide variant Uncertain significance rs61745409 GRCh37 Chromosome 14, 81610563: 81610563
18 TSHR NM_000369.2(TSHR): c.2181G> C (p.Glu727Asp) single nucleotide variant Benign/Likely benign rs1991517 GRCh38 Chromosome 14, 81144239: 81144239
19 TSHR NM_000369.2(TSHR): c.2181G> C (p.Glu727Asp) single nucleotide variant Benign/Likely benign rs1991517 GRCh37 Chromosome 14, 81610583: 81610583
20 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic/Likely pathogenic rs530719719 GRCh37 Chromosome 15, 45393426: 45393429
21 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic/Likely pathogenic rs530719719 GRCh38 Chromosome 15, 45101228: 45101231
22 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh38 Chromosome 14, 81139870: 81139870
23 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh37 Chromosome 14, 81606214: 81606214
24 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh37 Chromosome 15, 45400357: 45400357
25 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh38 Chromosome 15, 45108159: 45108159
26 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh38 Chromosome 1, 115033402: 115033402
27 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh37 Chromosome 1, 115576023: 115576023
28 PAX8 NM_003466.3(PAX8): c.898+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377714129 GRCh37 Chromosome 2, 113994167: 113994167
29 PAX8 NM_003466.3(PAX8): c.898+11C> T single nucleotide variant Conflicting interpretations of pathogenicity rs377714129 GRCh38 Chromosome 2, 113236590: 113236590
30 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Benign/Likely benign rs9678281 GRCh38 Chromosome 2, 1414420: 1414420
31 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Benign/Likely benign rs9678281 GRCh37 Chromosome 2, 1418192: 1418192
32 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Benign/Likely benign rs4927611 GRCh38 Chromosome 2, 1456232: 1456232
33 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Benign/Likely benign rs4927611 GRCh37 Chromosome 2, 1460004: 1460004
34 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Benign/Likely benign rs2280132 GRCh38 Chromosome 2, 1477383: 1477383
35 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Benign/Likely benign rs2280132 GRCh37 Chromosome 2, 1481155: 1481155
36 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh38 Chromosome 2, 1477459: 1477459
37 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh37 Chromosome 2, 1481231: 1481231
38 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Benign/Likely benign rs1126797 GRCh38 Chromosome 2, 1494031: 1494031
39 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Benign/Likely benign rs1126797 GRCh37 Chromosome 2, 1497803: 1497803
40 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Benign/Likely benign rs732608 GRCh38 Chromosome 2, 1496127: 1496127
41 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Benign/Likely benign rs732608 GRCh37 Chromosome 2, 1499899: 1499899
42 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Benign/Likely benign rs732609 GRCh38 Chromosome 2, 1496155: 1496155
43 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Benign/Likely benign rs732609 GRCh37 Chromosome 2, 1499927: 1499927
44 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh38 Chromosome 2, 1516904: 1516904
45 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh37 Chromosome 2, 1520676: 1520676
46 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Benign/Likely benign rs2241119 GRCh37 Chromosome 14, 81558965: 81558965
47 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Benign/Likely benign rs2241119 GRCh38 Chromosome 14, 81092621: 81092621
48 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Benign/Likely benign rs2075179 GRCh38 Chromosome 14, 81096654: 81096654
49 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Benign/Likely benign rs2075179 GRCh37 Chromosome 14, 81562998: 81562998
50 TSHR NM_000369.2(TSHR): c.1377G> A (p.Ala459=) single nucleotide variant Benign/Likely benign rs113951800 GRCh38 Chromosome 14, 81143435: 81143435

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
Sources

Expression for Congenital Hypothyroidism

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Search GEO for disease gene expression data for Congenital Hypothyroidism.
Sources

Pathways for Congenital Hypothyroidism

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Pathways related to Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 38
Show member pathways
 12.27 DUOX2 DUOXA2 GNAS IYD PAX8 SERPINA7
2
G alpha (s) signalling events 67
11.74 GNAS TSHB TSHR
3
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.39 GNAS PAX8 TSHB TSHR
4
Regulation of lipolysis in adipocytes 38
11.24 GNAS TSHB TSHR
5
Amine-derived hormones 67
Show member pathways
 11.03 DUOX1 DUOX2 IYD SLC5A5 TPO TSHB
6
Hormone ligand-binding receptors 67
10.48 TSHB TSHR
7
Thyroxine (Thyroid Hormone) Production 1
10.23 SLC5A5 TG TPO TSHR
Sources

GO Terms for Congenital Hypothyroidism

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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 DUOX1 DUOX2 GNAS SLC26A4

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.93 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
2 response to oxidative stress GO:0006979 9.73 DUOX1 DUOX2 TPO
3 anatomical structure morphogenesis GO:0009653 9.72 FOXE1 PAX8 TSHB
4 cellular oxidant detoxification GO:0098869 9.67 DUOX1 DUOX2 IYD TPO
5 hydrogen peroxide catabolic process GO:0042744 9.63 DUOX1 DUOX2 TPO
6 cellular response to gonadotropin stimulus GO:0071371 9.52 PAX8 SLC5A5
7 hydrogen peroxide biosynthetic process GO:0050665 9.51 DUOX1 DUOX2
8 thyroid hormone metabolic process GO:0042403 9.5 DUOX2 IYD TG
9 hydrogen peroxide metabolic process GO:0042743 9.49 DUOXA1 DUOXA2
10 cuticle development GO:0042335 9.48 DUOX1 DUOX2
11 hormone biosynthetic process GO:0042446 9.46 DUOX1 DUOX2 TG TPO
12 regulation of thyroid hormone generation GO:2000609 9.43 DUOXA1 DUOXA2
13 iodide transport GO:0015705 9.43 SLC26A4 SLC5A5 TG
14 thyroid gland development GO:0030878 9.43 DUOX2 FOXE1 NKX2-1 NKX2-5 PAX8 TG
15 thyroid-stimulating hormone signaling pathway GO:0038194 9.4 PAX8 TSHR
16 thyroid hormone generation GO:0006590 9.1 DUOX1 DUOX2 FOXE1 IYD SLC5A5 TPO

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 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
2 heme binding GO:0020037 9.58 DUOX1 DUOX2 TPO
3 peroxidase activity GO:0004601 9.33 DUOX1 DUOX2 TPO
4 NAD(P)H oxidase activity GO:0016174 9.32 DUOX1 DUOX2
5 iodide transmembrane transporter activity GO:0015111 9.26 SLC26A4 SLC5A5
6 iodide peroxidase activity GO:0004447 8.96 IYD TPO
7 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR
Sources

Sources for Congenital Hypothyroidism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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