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CH
MCID: CNG006
MIFTS: 63

Congenital Hypothyroidism (CH)

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 76 53 25 29 55 6 44 15 73
Myxedema, Congenital 73
Congenital Myxedema 25
Endemic Cretinism 73
Cretinism 25
Cht 25
Ch 25

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33


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Summaries for Congenital Hypothyroidism

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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 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 myxedema, congenital, 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 Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and testes, and related phenotypes are abnormality of epiphysis morphology and depressivity

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

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.

Wikipedia : 76 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 Maternal Tsh-Binding Inhibitory Antibodies

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

(show top 50) (show all 277)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 1 32.9 FOXE1 GNAS TSHR
2 hypothyroidism, congenital, nongoitrous, 2 32.7 FOXE1 NKX2-1 PAX8 SERPINA7 SLC26A4 TG
3 neonatal hypothyroidism 32.7 PAX8 SLC5A5 TG TPO TSHR
4 hypothyroidism, central, and testicular enlargement 32.5 DUOX1 DUOX2 DUOXA2 TSHB
5 pendred syndrome 32.1 DUOX2 PAX8 SLC26A4 TG TPO
6 hypothyroidism, congenital, nongoitrous, 4 31.6 POU1F1 SERPINA7 TG TPO TSHB
7 thyroid ectopia 31.2 NKX2-5 PAX8
8 familial thyroid dyshormonogenesis 30.9 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
9 myxedema 30.7 TG TPO TSHR
10 athyreosis 30.7 FOXE1 NKX2-1 NKX2-5 PAX8 SLC26A4 TG
11 endemic goiter 30.5 SERPINA7 TG TPO TSHB TSHR
12 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 30.3 FOXE1 TG TPO
13 hypothyroidism 29.8 DUOX2 DUOXA2 FOXE1 GLIS3 GNAS IYD
14 hyperthyroidism 29.7 GNAS SERPINA7 TG TPO TSHR
15 hyperthyroxinemia 29.7 SERPINA7 TPO TSHR
16 papillary carcinoma 29.6 NKX2-1 PAX8 TG TPO TSHR
17 graves disease 1 29.6 SERPINA7 TG TPO TSHR
18 graves' disease 29.4 GNAS SERPINA7 TG TPO TSHR
19 multinodular goiter 29.2 GNAS NKX2-1 PAX8 SLC26A4 TG TPO
20 goiter 29.2 DUOXA2 GNAS IYD NKX2-1 PAX8 SERPINA7
21 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.5
22 diabetes mellitus, neonatal, with congenital hypothyroidism 12.5
23 central congenital hypothyroidism 12.4
24 idiopathic congenital hypothyroidism 12.2
25 genetic transient congenital hypothyroidism 12.0
26 congenital hypothyroidism due to maternal intake of antithyroid drugs 12.0
27 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 12.0
28 chediak-higashi syndrome 11.8
29 thyroid dyshormonogenesis 1 11.7
30 thyroid dyshormonogenesis 2a 11.7
31 fetal iodine deficiency disorder 11.6
32 blood group, chido/rodgers system 11.6
33 central hypoventilation syndrome, congenital 11.5
34 thyroid dyshormonogenesis 6 11.4
35 cluster headache 11.4
36 hypothyroidism, congenital, nongoitrous, 3 11.3
37 hypothyroidism, congenital, nongoitrous, 5 11.3
38 hypothyroidism, congenital, nongoitrous, 6 11.3
39 bamforth syndrome 11.2
40 cluster headache, familial 11.2
41 undifferentiated pleomorphic sarcoma 11.1
42 macroglossia 11.1
43 cyclic neutropenia 11.1
44 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.1
45 thyroid dyshormonogenesis 3 11.0
46 thyroid dyshormonogenesis 4 11.0
47 thyroid dyshormonogenesis 5 11.0
48 thyroid-stimulating hormone level quantitative trait locus 1 11.0
49 cretinism athyreotic 11.0
50 peripheral resistance to thyroid hormones 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:

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

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
Sources

Drugs & Therapeutics for Congenital Hypothyroidism

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

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

Interventional clinical trials:

(show all 18)
# 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 Recruiting 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 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 29
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Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

41
Thyroid, Brain, Testes, Bone, Heart, Pituitary, Kidney
Sources

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50) (show all 1107)
# Title Authors Year
1
Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. ( 29325045 )
2018
2
Congenital Hypothyroidism. ( 29405999 )
2018
3
Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015. ( 29715190 )
2018
4
Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats. ( 29762250 )
2018
5
microRNA-124-3p inhibits the progression of congenital hypothyroidism via targeting programmed cell death protein 6. ( 29805523 )
2018
6
Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. ( 29977049 )
2018
7
Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up? ( 29715192 )
2018
8
Permanent Decompensated Congenital Hypothyroidism in Newborns with Whole-Blood Thyroid-Stimulating Hormone Concentrations between 8 and 10 mU/L: The Case for Lowering the Threshold. ( 29804122 )
2018
9
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. ( 29759035 )
2018
10
The Protective effect of P7C3 against DNA and neuron damage in rat pups with congenital hypothyroidism. ( 29665652 )
2018
11
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
12
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. ( 29881532 )
2018
13
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
14
The Effects of De-Whiskering and Congenital Hypothyroidism on The Development of Nitrergic Neurons in Rat Primary Somatosensory and Motor Cortices. ( 29633592 )
2018
15
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. ( 29650690 )
2018
16
Genetic and functional analysis of two missense<i>DUOX2</i>mutations in congenital hypothyroidism and goiter. ( 29435108 )
2018
17
Congenital Hypothyroidism Screening in Term Neonates using Umbilical Cord Blood TSH Values. ( 29911045 )
2018
18
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations. ( 29790453 )
2018
19
Conformation of the N-terminal ectodomain elicits different effects on DUOX function: a potential impact on congenital hypothyroidism caused by a H2O2 production defect. ( 29845893 )
2018
20
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
21
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
22
Early determinants of thyroid function outcome in children with congenital hypothyroidism and a normally located thyroid gland: a regional cohort study. ( 29968521 )
2018
23
Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen. ( 29945892 )
2018
24
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
25
Congenital hypothyroidism. ( 29804102 )
2018
26
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
27
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. ( 29720101 )
2018
28
Association between monoallelic<i>TSHR</i>mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
29
The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand. ( 29750647 )
2018
30
Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey. ( 29750648 )
2018
31
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
32
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
33
Normative Data for Thyroid Stimulating Hormone for Screening of Congenital Hypothyroidism. ( 29479653 )
2018
34
Genetics of Primary Congenital Hypothyroidism. ( 29493125 )
2018
35
Treatment of congenital hypothyroidism in a newborn with malabsorption after subtotal ileum resection. ( 29497539 )
2018
36
Developmental milestones at one year for the offspring of mothers with congenital hypothyroidism: a population-based study ( 29500308 )
2018
37
Prevention of Neurocognitive Impairment in Children Through Newborn Screening for Congenital Hypothyroidism. ( 29503268 )
2018
38
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
39
Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study. ( 29540462 )
2018
40
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. ( 29546359 )
2018
41
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia. ( 29549556 )
2018
42
Parenting styles and coping strategies among patients with early detected and treated congenital hypothyroidism. ( 29557609 )
2018
43
Risk factors associated with congenital hypothyroidism: a case-control study in southeast Iran. ( 29629049 )
2018
44
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. ( 30022773 )
2018
45
Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016. ( 30024866 )
2018
46
Untreated congenital hypothyroidism due to loss to follow-up: developing preventive strategies through quality improvement. ( 30030963 )
2018
47
Final height of Korean patients with early treated congenital hypothyroidism. ( 30032589 )
2018
48
Cyclic alternating pattern in infants with congenital hypothyroidism. ( 30037585 )
2018
49
Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child. ( 30050717 )
2018
50
Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. ( 30074255 )
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 37
Show member pathways
 12.08 DUOX2 DUOXA2 GNAS IYD PAX8 SERPINA7
2
G alpha (s) signalling events 66
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 37
11.23 GNAS TSHB TSHR
5
Amine-derived hormones 66
Show member pathways
 11.03 DUOX1 DUOX2 IYD SLC5A5 TPO TSHB
6
Hormone ligand-binding receptors 66
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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