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MCID: CNG006
MIFTS: 60

Congenital Hypothyroidism

Categories: Rare diseases, Endocrine diseases, Immune 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
Anatomical: Endocrine 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 pendred syndrome and neonatal hypothyroidism. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Human Thyroid Stimulating Hormone (TSH) signaling pathway. 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 hypogonadism and macroglossia

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.

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

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 188)
# Related Disease Score Top Affiliating Genes
1 pendred syndrome 31.8 DUOX2 PAX8 TG TPO
2 neonatal hypothyroidism 31.5 PAX8 SLC5A5 TG TPO TSHR
3 hypothyroidism, congenital, nongoitrous, 2 31.3 FOXE1 NKX2-1 PAX8 TG TSHR
4 thyroid ectopia 31.1 NKX2-5 PAX8
5 thyroiditis 30.5 TG TPO TSHB TSHR
6 hyperthyroxinemia 30.2 TPO TSHR
7 myxedema 30.2 TG TPO TSHR
8 hyperthyroidism 30.0 TG TPO TSHR
9 hypothyroidism, congenital, nongoitrous, 4 29.9 TG TPO TSHB
10 graves' disease 29.6 TG TPO TSHR
11 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 29.3 FOXE1 TG TPO
12 familial thyroid dyshormonogenesis 29.2 DUOX2 DUOXA2 IYD SLC5A5 TG TPO
13 multinodular goiter 28.7 NKX2-1 PAX8 TG TPO TSHR
14 papillary carcinoma 28.7 NKX2-1 PAX8 TG TPO TSHR
15 athyreosis 28.0 FOXE1 NKX2-1 NKX2-5 PAX8 TG TSHR
16 goiter 27.4 DUOXA2 IYD NKX2-1 PAX8 SLC5A5 TG
17 hypothyroidism 24.5 DUOX2 DUOXA2 FOXE1 GLIS3 IYD NKX2-1
18 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 12.3
19 diabetes mellitus, neonatal, with congenital hypothyroidism 12.3
20 central congenital hypothyroidism 12.2
21 idiopathic congenital hypothyroidism 12.0
22 cretinism athyreotic 11.9
23 genetic transient congenital hypothyroidism 11.9
24 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.9
25 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.9
26 congenital nongoitrous hypothryoidism 2 11.6
27 chediak-higashi syndrome 11.6
28 thyroid dyshormonogenesis 1 11.6
29 thyroid dyshormonogenesis 2a 11.5
30 hypothyroidism, central, and testicular enlargement 11.5
31 fetal iodine deficiency disorder 11.4
32 blood group, chido/rodgers system 11.4
33 central hypoventilation syndrome, congenital 11.4
34 thyroid dyshormonogenesis 6 11.2
35 hypothyroidism, congenital, nongoitrous, 1 11.2
36 congenital nongoitrous hypothryoidism 4 11.2
37 congenital nongoitrous hypothryoidism 5 11.2
38 congenital nongoitrous hypothryoidism 1 11.2
39 congenital nongoitrous hypothryoidism 3 11.2
40 congenital nongoitrous hypothryoidism 6 11.2
41 bamforth syndrome 11.0
42 cluster headache, familial 11.0
43 undifferentiated pleomorphic sarcoma 11.0
44 macroglossia 11.0
45 cyclic neutropenia 10.9
46 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 10.9
47 cluster headache 10.9
48 thyroid dyshormonogenesis 3 10.9
49 thyroid dyshormonogenesis 4 10.9
50 thyroid dyshormonogenesis 5 10.9

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

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.85 NKX2-1 NKX2-5 PAX8 SLC5A5 TG TPO
2 growth/size/body region MP:0005378 9.65 NKX2-1 NKX2-5 PAX8 TG TPO TSHB
3 homeostasis/metabolism MP:0005376 9.32 GLIS3 NKX2-1 NKX2-5 PAX8 SLC5A5 TG
Sources

Drugs & Therapeutics for Congenital Hypothyroidism

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

(show all 39)
# 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
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
5 Androgen Antagonists Phase 3
6 Androgens Phase 3
7 Antineoplastic Agents, Hormonal Phase 3
8 Contraceptive Agents Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Luteolytic Agents Phase 3
12 Triptorelin Pamoate Phase 3
13 Antimetabolites Phase 3
14 Antimetabolites, Antineoplastic Phase 3
15
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
16
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
17
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
18
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
19 Albumin-Bound Paclitaxel Phase 2
20 Antimitotic Agents Phase 2
21 Antineoplastic Agents, Phytogenic Phase 2
22 Histamine Antagonists Phase 2
23 Histamine H1 Antagonists Phase 2
24 Histamine H2 Antagonists Phase 2
25 Methylprednisolone acetate Phase 2
26 Methylprednisolone Hemisuccinate Phase 2
27 Prednisolone acetate Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30
Iodine Approved, Investigational ,Not Applicable 7553-56-2 807
31
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
32
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
33 cadexomer iodine ,Not Applicable
34 Radiopharmaceuticals
35 Sodium Pertechnetate Tc 99m
36 Antioxidants Not Applicable
37 Micronutrients Not Applicable
38 Protective Agents Not Applicable
39 Trace Elements 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 Neoadjuvant Treatment for Advanced Rectal Carcinoma Recruiting NCT02551237 Phase 3 Capecitabine
4 EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian Cancer Recruiting NCT02001272 Phase 2 Paclitaxel + Carboplatin every 3 weeks;Carboplatin monotherapy every 3 weeks;Weekly Paclitaxel and Carboplatin
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 Hypothyroidism With Congenital Heart Disease (CHD) Not yet recruiting NCT03496363
17 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Not yet recruiting NCT03309228
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
Sources

Anatomical Context for Congenital Hypothyroidism

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MalaCards organs/tissues related to Congenital Hypothyroidism:

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

Publications for Congenital Hypothyroidism

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Articles related to Congenital Hypothyroidism:

(show top 50) (show all 880)
# 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
The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. ( 29074613 )
2017
33
Congenital Hypothyroidism: Facts, Facets &amp;amp; Therapy. ( 28176629 )
2017
34
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital. ( 29142577 )
2017
35
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
36
The Impact of Iodine Status on the Recall Rate of the Screening Program for Congenital Hypothyroidism: Findings from Two National Studies in Iran. ( 29084139 )
2017
37
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
38
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
39
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
40
Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats. ( 29073628 )
2017
41
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
42
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
43
Homozygous DUOXA2 mutation (p.Tyr138(*)) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. ( 28626131 )
2017
44
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. ( 28541007 )
2017
45
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
46
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
47
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
48
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
49
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017
50
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism. ( 28633507 )
2017
Sources

Variations for Congenital Hypothyroidism

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ClinVar genetic disease variations for Congenital Hypothyroidism:

6
(show top 50) (show all 748)
# 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 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic/Likely pathogenic rs530719719 GRCh37 Chromosome 15, 45393426: 45393429
4 DUOX2 NM_014080.4(DUOX2): c.2895_2898delGTTC (p.Phe966Serfs) deletion Pathogenic/Likely pathogenic rs530719719 GRCh38 Chromosome 15, 45101228: 45101231
5 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh38 Chromosome 14, 81139870: 81139870
6 TSHR NM_000369.2(TSHR): c.881+3A> G single nucleotide variant Likely benign rs186091357 GRCh37 Chromosome 14, 81606214: 81606214
7 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh37 Chromosome 15, 45400357: 45400357
8 DUOX2 NM_014080.4(DUOX2): c.1462G> A (p.Gly488Arg) single nucleotide variant Pathogenic/Likely pathogenic rs191759494 GRCh38 Chromosome 15, 45108159: 45108159
9 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh38 Chromosome 1, 115033402: 115033402
10 TSHB NM_000549.4(TSHB): c.40A> G (p.Thr14Ala) single nucleotide variant Benign rs10776792 GRCh37 Chromosome 1, 115576023: 115576023
11 PAX8 NM_003466.3(PAX8): c.898+11C> T single nucleotide variant Uncertain significance rs377714129 GRCh37 Chromosome 2, 113994167: 113994167
12 PAX8 NM_003466.3(PAX8): c.898+11C> T single nucleotide variant Uncertain significance rs377714129 GRCh38 Chromosome 2, 113236590: 113236590
13 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Likely benign rs9678281 GRCh38 Chromosome 2, 1414420: 1414420
14 TPO NM_000547.5(TPO): c.12C> G (p.Leu4=) single nucleotide variant Likely benign rs9678281 GRCh37 Chromosome 2, 1418192: 1418192
15 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Likely benign rs4927611 GRCh38 Chromosome 2, 1456232: 1456232
16 TPO NM_000547.5(TPO): c.769G> T (p.Ala257Ser) single nucleotide variant Likely benign rs4927611 GRCh37 Chromosome 2, 1460004: 1460004
17 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Likely benign rs2280132 GRCh38 Chromosome 2, 1477383: 1477383
18 TPO NM_000547.5(TPO): c.1117G> T (p.Ala373Ser) single nucleotide variant Likely benign rs2280132 GRCh37 Chromosome 2, 1481155: 1481155
19 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh38 Chromosome 2, 1477459: 1477459
20 TPO NM_000547.5(TPO): c.1193G> C (p.Ser398Thr) single nucleotide variant Benign rs2175977 GRCh37 Chromosome 2, 1481231: 1481231
21 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Likely benign rs1126797 GRCh38 Chromosome 2, 1494031: 1494031
22 TPO NM_000547.5(TPO): c.1998C> T (p.Asp666=) single nucleotide variant Likely benign rs1126797 GRCh37 Chromosome 2, 1497803: 1497803
23 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Likely benign rs732608 GRCh38 Chromosome 2, 1496127: 1496127
24 TPO NM_000547.5(TPO): c.2145C> T (p.Pro715=) single nucleotide variant Likely benign rs732608 GRCh37 Chromosome 2, 1499899: 1499899
25 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Likely benign rs732609 GRCh38 Chromosome 2, 1496155: 1496155
26 TPO NM_000547.5(TPO): c.2173A> C (p.Thr725Pro) single nucleotide variant Likely benign rs732609 GRCh37 Chromosome 2, 1499927: 1499927
27 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh38 Chromosome 2, 1516904: 1516904
28 TPO NM_000547.5(TPO): c.2540T> C (p.Val847Ala) single nucleotide variant Benign rs1126799 GRCh37 Chromosome 2, 1520676: 1520676
29 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Likely benign rs2241119 GRCh37 Chromosome 14, 81558965: 81558965
30 TSHR NM_000369.2(TSHR): c.545+13A> G single nucleotide variant Likely benign rs2241119 GRCh38 Chromosome 14, 81092621: 81092621
31 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Likely benign rs2075179 GRCh38 Chromosome 14, 81096654: 81096654
32 TSHR NM_000369.2(TSHR): c.561T> C (p.Asn187=) single nucleotide variant Likely benign rs2075179 GRCh37 Chromosome 14, 81562998: 81562998
33 TSHR NM_000369.2(TSHR): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs113951800 GRCh38 Chromosome 14, 81143435: 81143435
34 TSHR NM_000369.2(TSHR): c.1377G> A (p.Ala459=) single nucleotide variant Likely benign rs113951800 GRCh37 Chromosome 14, 81609779: 81609779
35 DUOX2 NM_014080.4(DUOX2): c.4479C> G (p.Pro1493=) single nucleotide variant Likely benign rs56323146 GRCh38 Chromosome 15, 45094608: 45094608
36 DUOX2 NM_014080.4(DUOX2): c.4479C> G (p.Pro1493=) single nucleotide variant Likely benign rs56323146 GRCh37 Chromosome 15, 45386806: 45386806
37 DUOX2 NM_014080.4(DUOX2): c.3966C> T (p.Ser1322=) single nucleotide variant Uncertain significance rs61730032 GRCh38 Chromosome 15, 45095942: 45095942
38 DUOX2 NM_014080.4(DUOX2): c.3966C> T (p.Ser1322=) single nucleotide variant Uncertain significance rs61730032 GRCh37 Chromosome 15, 45388140: 45388140
39 DUOX2 NM_014080.4(DUOX2): c.3515+15T> A single nucleotide variant Benign rs269869 GRCh37 Chromosome 15, 45391566: 45391566
40 DUOX2 NM_014080.4(DUOX2): c.3515+15T> A single nucleotide variant Benign rs269869 GRCh38 Chromosome 15, 45099368: 45099368
41 DUOX2 NM_014080.4(DUOX2): c.3200C> T (p.Ser1067Leu) single nucleotide variant Benign rs269868 GRCh37 Chromosome 15, 45392075: 45392075
42 DUOX2 NM_014080.4(DUOX2): c.3200C> T (p.Ser1067Leu) single nucleotide variant Benign rs269868 GRCh38 Chromosome 15, 45099877: 45099877
43 DUOX2 NM_014080.4(DUOX2): c.2334+10C> T single nucleotide variant Likely benign rs73406330 GRCh38 Chromosome 15, 45105633: 45105633
44 DUOX2 NM_014080.4(DUOX2): c.2334+10C> T single nucleotide variant Likely benign rs73406330 GRCh37 Chromosome 15, 45397831: 45397831
45 DUOX2 NM_014080.4(DUOX2): c.2286G> A (p.Gln762=) single nucleotide variant Likely benign rs73406334 GRCh38 Chromosome 15, 45105691: 45105691
46 DUOX2 NM_014080.4(DUOX2): c.2286G> A (p.Gln762=) single nucleotide variant Likely benign rs73406334 GRCh37 Chromosome 15, 45397889: 45397889
47 DUOX2 NM_014080.4(DUOX2): c.2148+9C> T single nucleotide variant Likely benign rs73406337 GRCh37 Chromosome 15, 45398314: 45398314
48 DUOX2 NM_014080.4(DUOX2): c.2148+9C> T single nucleotide variant Likely benign rs73406337 GRCh38 Chromosome 15, 45106116: 45106116
49 DUOX2 NM_014080.4(DUOX2): c.2102G> A (p.Arg701Gln) single nucleotide variant Likely benign rs113400262 GRCh37 Chromosome 15, 45398369: 45398369
50 DUOX2 NM_014080.4(DUOX2): c.2102G> A (p.Arg701Gln) single nucleotide variant Likely benign rs113400262 GRCh38 Chromosome 15, 45106171: 45106171

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
 12.67 DUOX2 DUOXA2 IYD PAX8 SLC5A5 TG
2
Human Thyroid Stimulating Hormone (TSH) signaling pathway 1
11.27 PAX8 TSHB TSHR
3
Amine-derived hormones 66
Show member pathways
 10.7 DUOX1 DUOX2 IYD SLC5A5 TPO TSHB
4
Hormone ligand-binding receptors 66
10.44 TSHB TSHR
5
Thyroxine (Thyroid Hormone) Production 1
10.03 SLC5A5 TG TPO TSHR
Sources

GO Terms for Congenital Hypothyroidism

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.7 FOXE1 PAX8 TSHB
2 response to oxidative stress GO:0006979 9.69 DUOX1 DUOX2 TPO
3 cellular oxidant detoxification GO:0098869 9.62 DUOX1 DUOX2 IYD TPO
4 hormone-mediated signaling pathway GO:0009755 9.55 TSHB TSHR
5 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.54 NKX2-5 PAX8
6 hydrogen peroxide catabolic process GO:0042744 9.54 DUOX1 DUOX2 TPO
7 cellular response to gonadotropin stimulus GO:0071371 9.49 PAX8 SLC5A5
8 hydrogen peroxide biosynthetic process GO:0050665 9.48 DUOX1 DUOX2
9 iodide transport GO:0015705 9.46 SLC5A5 TG
10 hormone biosynthetic process GO:0042446 9.46 DUOX1 DUOX2 TG TPO
11 cuticle development GO:0042335 9.43 DUOX1 DUOX2
12 thyroid hormone metabolic process GO:0042403 9.43 DUOX2 IYD TG
13 thyroid gland development GO:0030878 9.43 DUOX2 FOXE1 NKX2-1 NKX2-5 PAX8 TG
14 thyroid-stimulating hormone signaling pathway GO:0038194 9.4 PAX8 TSHR
15 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 oxidoreductase activity GO:0016491 9.67 DUOX1 DUOX2 IYD TPO
2 heme binding GO:0020037 9.5 DUOX1 DUOX2 TPO
3 NAD(P)H oxidase activity GO:0016174 9.26 DUOX1 DUOX2
4 thyroid-stimulating hormone receptor activity GO:0004996 9.16 PAX8 TSHR
5 iodide peroxidase activity GO:0004447 8.96 IYD TPO
6 peroxidase activity GO:0004601 8.8 DUOX1 DUOX2 TPO
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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