CH
MCID: CNG006
MIFTS: 60

Congenital Hypothyroidism (CH) malady

Categories: Rare diseases, Genetic diseases, Endocrine diseases, Immune diseases

Aliases & Classifications for Congenital Hypothyroidism

Aliases & Descriptions for Congenital Hypothyroidism:

Name: Congenital Hypothyroidism 12 50 24 25 29 52 42 14 69
Cretinism 12 25
Myxedema, Congenital 69
Congenital Myxedema 25
Endemic Cretinism 69
Cht 25
Ch 25

Classifications:



Summaries for Congenital Hypothyroidism

NIH Rare Diseases : 50 congenital hypothyroidism is a condition that affects infants from birth and results from a partial or complete loss of thyroid function (hypothyroidism). the thyroid gland makes hormones that play an important role in regulating growth, brain development, and metabolism in the body. congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. in the united states and many other countries, all newborns are tested for congenital hypothyroidism as part of newborn screening. if untreated, congenital hypothyroidism can lead to intellectual disability and abnormal growth. if treatment begins in the first month after birth, infants usually develop normally. treatment involves medication to replace the missing thyroid hormones, such as levothyroxine. most cases of congenital hypothyroidism occur in people with no history of the disorder in their family. about 15-20% of cases are due to an underlying gene mutation. rarely, congenital hypothyroidism can be a symptom included in a larger genetic disorder called a syndrome. last updated: 2/19/2016

MalaCards based summary : Congenital Hypothyroidism, also known as cretinism, is related to choreoathetosis, hypothyroidism, and neonatal respiratory distress and hypothyroidism, congenital, nongoitrous, 1, and has symptoms including constipation, anosmia and abnormality of epiphysis morphology. An important gene associated with Congenital Hypothyroidism is TPO (Thyroid Peroxidase), and among its related pathways/superpathways are Allograft rejection and Insulin secretion. 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 endocrine/exocrine gland and growth/size/body region

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

Related Diseases for Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia Congenital Hypothyroidism
Central Congenital Hypothyroidism Hypothyroidism Due to Iodide Transport Defect
Congenital Hypothyroidism, Duoxa2-Related Congenital Hypothyroidism, Duox2-Related
Congenital Hypothyroidism, Iyd-Related Congenital Hypothyroidism, Tpo-Related
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 169)
id Related Disease Score Top Affiliating Genes
1 choreoathetosis, hypothyroidism, and neonatal respiratory distress 32.6 NKX2-1 PAX8 TG TPO TSHR
2 hypothyroidism, congenital, nongoitrous, 1 32.2 TG TPO TSHR
3 infertility 29.9 NKX2-1 TG
4 kidney disease 29.5 NKX2-1 TG
5 diabetes mellitus, neonatal, with congenital hypothyroidism 12.2
6 central congenital hypothyroidism 11.9
7 idiopathic congenital hypothyroidism 11.9
8 cretinism athyreotic 11.8
9 congenital hypothyroidism, duox2-related 11.8
10 congenital hypothyroidism, iyd-related 11.8
11 congenital hypothyroidism, tpo-related 11.8
12 genetic transient congenital hypothyroidism 11.7
13 congenital hypothyroidism due to maternal intake of antithyroid drugs 11.7
14 congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies 11.7
15 congenital hypothyroidism, duoxa2-related 11.7
16 hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia 11.7
17 thyroid dyshormonogenesis 1 11.5
18 chediak-higashi syndrome 11.5
19 thyroid dyshormonogenesis 2a 11.4
20 hypothyroidism, central, and testicular enlargement 11.2
21 thryoid dyshormonogenesis 6 11.1
22 hypothryoidism, congenital, nongoitrous 4 11.1
23 neonatal hypothyroidism 11.1
24 pendred syndrome 11.1
25 central hypoventilation syndrome, congenital 11.0
26 hypothyroidism 10.9
27 macroglossia 10.9
28 hypothyroidism, congenital, nongoitrous, 6 10.9
29 cluster headache 10.8
30 neutropenia, cyclic 10.8
31 cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 10.8
32 thyroid dyshormonogenesis 3 10.7
33 thyroid dyshormonogenesis 5 10.7
34 thyroid dyshormonogenesis 4 10.7
35 thyroiditis 10.6
36 athyreosis 10.4
37 thyroid ectopia 10.3
38 fibrous meningioma 10.3 TG TPO
39 chromophil adenoma of the kidney 10.3 NKX2-1 TG
40 bladder flat intraepithelial lesion 10.2 PAX8 TG
41 tick paralysis 10.2 TG TPO
42 echinostomiasis 10.2 DUOX2 TG
43 acute hemorrhagic encephalitis 10.2 TG TSHR
44 tmem70 defect 10.2 NKX2-1 PAX8 TG
45 potter's syndrome 10.2 PAX8 TSHR
46 frontal sinusitis 10.2 TG TPO
47 aortic valve atresia 10.2 NKX2-5 PAX8
48 gastrinoma 10.2 NKX2-1 TG TSHR
49 conjunctival deposit 10.2 TG TPO TSHR
50 endemic goiter 10.2 TG TPO TSHR

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



Diseases related to Congenital Hypothyroidism

Symptoms & Phenotypes for Congenital Hypothyroidism

Human phenotypes related to Congenital Hypothyroidism:

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

MGI Mouse Phenotypes related to Congenital Hypothyroidism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.96 TPO TSHR DUOX2 FOXE1 GLIS3 NKX2-1
2 growth/size/body region MP:0005378 9.9 DUOX2 FOXE1 GLIS3 NKX2-1 NKX2-5 PAX8
3 hearing/vestibular/ear MP:0005377 9.35 DUOX2 PAX8 POU1F1 TPO TSHR
4 homeostasis/metabolism MP:0005376 9.32 DUOX2 FOXE1 GLIS3 NKX2-1 NKX2-5 PAX8

Drugs & Therapeutics for Congenital Hypothyroidism

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4,Phase 3,Early Phase 1
2 Pharmaceutical Solutions Phase 4
3
Flutamide Approved Phase 3 13311-84-7 3397
4 Triptorelin Pamoate Phase 3
5 Contraceptive Agents Phase 3
6 Hormone Antagonists Phase 3
7 Androgen Antagonists Phase 3
8 Androgens Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Luteolytic Agents Phase 3
11 Antineoplastic Agents, Hormonal Phase 3
12
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
13
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
14
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16 Prednisolone acetate Phase 2
17 Albumin-Bound Paclitaxel Phase 2
18 Histamine Antagonists Phase 2
19 Histamine H1 Antagonists Phase 2
20 Histamine H2 Antagonists Phase 2
21 Prednisolone hemisuccinate Phase 2
22 Prednisolone phosphate Phase 2
23 Methylprednisolone acetate Phase 2
24 Methylprednisolone Hemisuccinate Phase 2
25 Antimitotic Agents Phase 2
26 Antineoplastic Agents, Phytogenic Phase 2
27 Sodium Pertechnetate Tc 99m Phase 1
28 Radiopharmaceuticals Phase 1
29
Iodine 7553-56-2 807
30 cadexomer iodine
31 Immunoglobulins Early Phase 1
32 Antibodies Early Phase 1

Interventional clinical trials:

(show all 20)
id Name Status NCT ID Phase
1 Phase 4 Study in Secondary Hypothyroidism: Body Weight Adapted Thyroxin Treatment and Triiodothyronine Supplementation Completed NCT00360074 Phase 4
2 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
3 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
4 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Phase 3
5 EWOC-1 Trial: Carboplatin +/- Paclitaxel in Vulnerable Elderly Patients With Stage III-IV Advanced Ovarian Cancer Recruiting NCT02001272 Phase 2
6 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Recruiting NCT02307175 Phase 1
7 Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? Unknown status NCT00505479
8 Measurement of Hormonal Concentration in Chylothorax Fluid in Infants With Congenital Chylothorax Unknown status NCT00267345
9 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
10 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593
11 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
12 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634
13 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
14 X-chromosome Inactivation, Epigenetics and the Transcriptome Completed NCT01678261
15 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Active, not recruiting NCT01916018
16 NeoThyr - the Role of Mitochondria-dysfunction in Newborns of Mothers With Autoimmune Thyroid Disease Active, not recruiting NCT02061111
17 Treatment Trial of Subclinical Hypothyroidism in Down Syndrome Active, not recruiting NCT01832753
18 Study of an Intervention to Improve Problem List Accuracy and Use Active, not recruiting NCT01105923
19 Recurrent Pregnancy Loss and Thyroid Disease Enrolling by invitation NCT03106935 Early Phase 1
20 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Congenital Hypothyroidism

Cochrane evidence based reviews: congenital hypothyroidism

Genetic Tests for Congenital Hypothyroidism

Genetic tests related to Congenital Hypothyroidism:

id Genetic test Affiliating Genes
1 Congenital Hypothyroidism 29 24

Anatomical Context for Congenital Hypothyroidism

MalaCards organs/tissues related to Congenital Hypothyroidism:

39
Thyroid, Brain, Testes, Bone, Heart, Kidney, Pituitary

Publications for Congenital Hypothyroidism

Articles related to Congenital Hypothyroidism:

(show top 50) (show all 752)
id Title Authors Year
1
Prenatal diagnosis and successful intrauterine treatment of severe congenital hypothyroidism associated with fetal goiter. ( 27862717 )
2017
2
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ( 28412200 )
2017
3
Congenital Hypothyroidism: Facts, Facets & Therapy. ( 28176629 )
2017
4
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. ( 28060725 )
2017
5
Cognitive profiles of patients with early detected and treated congenital hypothyroidism. ( 28097835 )
2017
6
Congenital Hypothyroidism: Role of Nuclear Medicine. ( 28237002 )
2017
7
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism. ( 28328531 )
2017
8
Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey. ( 28368265 )
2017
9
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
10
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion. ( 28398607 )
2017
11
Timing of thyroid ultrasonography in the etiological investigation of congenital hypothyroidism. ( 28225993 )
2017
12
Erratum to: Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. ( 28356101 )
2017
13
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
14
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
15
A Frequent Oligogenic Involvement in Congenital Hypothyroidism. ( 28444304 )
2017
16
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
17
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
18
Hormonal and testicular changes in rats submitted to congenital hypothyroidism in early life. ( 27793676 )
2017
19
Reference intervals for thyroid stimulating hormone and free thyroxine derived from neonates undergoing routine screening for congenital hypothyroidism at a university teaching hospital in Nairobi, Kenya: a cross sectional study. ( 27216400 )
2016
20
Neonatal Screening for congenital hypothyroidism in Razavi Khorasan Province, Iran. ( 27611842 )
2016
21
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. ( 27108200 )
2016
22
Congenital Hypothyroidism: An Unusual Combination of Biochemical Abnormalities. ( 27994903 )
2016
23
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. ( 26709262 )
2016
24
Thyroxine-Based Screening for Congenital Hypothyroidism in Neonates with Down Syndrome. ( 26995701 )
2016
25
Growth development in children with congenital hypothyroidism: the effect of screening and treatment variables-a comprehensive longitudinal study. ( 27477291 )
2016
26
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. ( 27061120 )
2016
27
A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. ( 27207603 )
2016
28
Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. ( 27115209 )
2016
29
Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism. ( 27089409 )
2016
30
Individualized treatment to optimize eventual cognitive outcome in congenital hypothyroidism. ( 27494505 )
2016
31
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. ( 27557340 )
2016
32
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. ( 27349010 )
2016
33
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates. ( 27060741 )
2016
34
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. ( 27373559 )
2016
35
Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review. ( 27942261 )
2016
36
CONGENITAL HYPOTHYROIDISM AND BONE REMODELING CYCLE. ( 27840329 )
2016
37
Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. ( 27255745 )
2016
38
A baby with congenital hypothyroidism born to a hypothyroid mother who expressed undiagnosed thyroid stimulation blocking antibody. ( 27777909 )
2016
39
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. ( 26742565 )
2016
40
The role of season and climate in the incidence of congenital hypothyroidism in Kerman province, Southeastern Iran. ( 27941171 )
2016
41
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. ( 26777470 )
2016
42
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. ( 28144251 )
2016
43
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis. ( 27169104 )
2016
44
The incidence of congenital hypothyroidism and its determinants from 2012 to 2014 in Shadegan, Iran: a case-control study. ( 27283138 )
2016
45
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families. ( 27244801 )
2016
46
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter. ( 27421132 )
2016
47
Transient congenital hypothyroidism in Turkey: An analysis on frequency and natural course. ( 27086592 )
2016
48
Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. ( 27135621 )
2016
49
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. ( 27166716 )
2016
50
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. ( 27173810 )
2016

Variations for Congenital Hypothyroidism

ClinVar genetic disease variations for Congenital Hypothyroidism:

6
id 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

Copy number variations for Congenital Hypothyroidism from CNVD:

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

Expression for Congenital Hypothyroidism

Search GEO for disease gene expression data for Congenital Hypothyroidism.

Pathways for Congenital Hypothyroidism

GO Terms for Congenital Hypothyroidism

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 NKX2-1 NKX2-5 POU1F1

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.95 GLIS3 NKX2-1 NKX2-5 PAX8 POU1F1
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.89 FOXE1 GLIS3 NKX2-1 NKX2-5 POU1F1
3 transcription from RNA polymerase II promoter GO:0006366 9.88 GLIS3 NKX2-5 PAX8 POU1F1
4 regulation of transcription from RNA polymerase II promoter GO:0006357 9.86 FOXE1 GLIS3 NKX2-1 NKX2-5
5 positive regulation of transcription, DNA-templated GO:0045893 9.85 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
6 anatomical structure morphogenesis GO:0009653 9.65 FOXE1 PAX8 TSHB
7 cellular oxidant detoxification GO:0098869 9.58 DUOX2 IYD TPO
8 positive regulation of multicellular organism growth GO:0040018 9.57 POU1F1 TSHR
9 pituitary gland development GO:0021983 9.54 NKX2-1 POU1F1
10 hormone-mediated signaling pathway GO:0009755 9.52 TSHB TSHR
11 hydrogen peroxide catabolic process GO:0042744 9.51 DUOX2 TPO
12 cellular response to gonadotropin stimulus GO:0071371 9.43 PAX8 SLC5A5
13 hormone biosynthetic process GO:0042446 9.43 DUOX2 TG TPO
14 iodide transport GO:0015705 9.37 SLC5A5 TG
15 thyroid hormone generation GO:0006590 9.35 DUOX2 FOXE1 IYD SLC5A5 TPO
16 thyroid hormone metabolic process GO:0042403 9.33 DUOX2 IYD TG
17 thyroid-stimulating hormone signaling pathway GO:0038194 9.32 PAX8 TSHR
18 thyroid gland development GO:0030878 9.1 DUOX2 FOXE1 NKX2-1 NKX2-5 PAX8 TG

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.72 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
2 sequence-specific DNA binding GO:0043565 9.55 FOXE1 NKX2-1 NKX2-5 PAX8 POU1F1
3 transcription regulatory region DNA binding GO:0044212 9.54 NKX2-1 NKX2-5 PAX8
4 peroxidase activity GO:0004601 9.26 DUOX2 TPO
5 iodide peroxidase activity GO:0004447 8.96 IYD TPO
6 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....