MCID: NNT019
MIFTS: 42

Neonatal Hypothyroidism

Categories: Rare diseases

Aliases & Classifications for Neonatal Hypothyroidism

MalaCards integrated aliases for Neonatal Hypothyroidism:

Name: Neonatal Hypothyroidism 54
Congenital Hypothyroidism 74
Endemic Cretinism 74
Cretinism 54

Classifications:



External Ids:

Summaries for Neonatal Hypothyroidism

MalaCards based summary : Neonatal Hypothyroidism, also known as congenital hypothyroidism, is related to hypothyroidism, congenital, nongoitrous, 4 and endemic goiter. An important gene associated with Neonatal Hypothyroidism is ADCY10 (Adenylate Cyclase 10), and among its related pathways/superpathways are Allograft rejection and Aldosterone synthesis and secretion. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include thyroid, testes and brain, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Neonatal Hypothyroidism

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

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 4 31.6 TG TPO
2 endemic goiter 30.0 TG TPO TSHR
3 hypothyroidism 29.7 PAX8 SLC5A5 TG TPO TSHR
4 myxedema 29.7 TG TPO TSHR
5 graves disease 1 29.4 TG TPO TSHR
6 hyperthyroidism 29.2 TG TPO TSHR
7 thyroiditis 29.1 TG TPO TSHR
8 hypothyroidism, congenital, nongoitrous, 2 28.9 PAX8 TG TSHR
9 thyroid cancer 28.3 PAX8 SLC5A5 TG TPO TSHR
10 congenital hypothyroidism 28.3 PAX8 SLC5A5 TG TPO TSHR
11 goiter 28.0 PAX8 SLC5A5 TG TPO TSHR
12 cretinism athyreotic 12.3
13 fetal iodine deficiency disorder 11.6
14 kocher-debre-semelaigne syndrome 11.1
15 multiple sclerosis 10.0
16 precocious puberty 10.0
17 water-clear cell adenoma 10.0 PAX8 TG
18 subacute lymphocytic thyroiditis 10.0 TG TPO
19 phenylketonuria 10.0
20 acute cystitis 10.0 ADCY10 SLC5A5
21 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0 TG TPO
22 plummer's disease 9.9 TG TPO
23 premature menopause 9.9 TG TPO
24 pernicious anemia 9.9 TG TPO
25 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.9 TG TPO
26 amyotrophic lateral sclerosis 1 9.9
27 breast cancer 9.9
28 cystathioninuria 9.9
29 sudden infant death syndrome 9.9
30 xeroderma pigmentosum, variant type 9.9
31 osteochondritis dissecans 9.9
32 osteochondrosis 9.9
33 umbilical hernia 9.9
34 hypogonadotropic hypogonadism 9.9
35 rickets 9.9
36 hypophosphatasia 9.9
37 ichthyosis 9.9
38 lateral sclerosis 9.9
39 neonatal jaundice 9.9
40 syphilis 9.9
41 mutism 9.9
42 ovarian cyst 9.9
43 congenital syphilis 9.9
44 hypoglycemia 9.9
45 dwarfism 9.9
46 glyceraldehyde-3-phosphate dehydrogenase deficiency 9.9
47 pyridoxine deficiency 9.9
48 neonatal thyrotoxicosis 9.9 PAX8 TSHR
49 hashimoto encephalopathy 9.9 TPO TSHR
50 audiogenic seizures 9.8

Comorbidity relations with Neonatal Hypothyroidism via Phenotypic Disease Network (PDN):


Hypothyroidism

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



Diseases related to Neonatal Hypothyroidism

Symptoms & Phenotypes for Neonatal Hypothyroidism

GenomeRNAi Phenotypes related to Neonatal Hypothyroidism according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.23 ADCY10 PAX8 SLC5A5 TG
2 Decreased viability GR00402-S-2 9.23 ADCY10 PAX8 SLC5A5 TG

MGI Mouse Phenotypes related to Neonatal Hypothyroidism:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 PAX8 SLC5A5 TG TPO TSHR
2 homeostasis/metabolism MP:0005376 9.43 ADCY10 PAX8 SLC5A5 TG TPO TSHR
3 limbs/digits/tail MP:0005371 8.92 PAX8 TG TPO TSHR

Drugs & Therapeutics for Neonatal Hypothyroidism

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

(show all 29)
# 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 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
7 Androgen Antagonists Phase 3
8 Antineoplastic Agents, Hormonal Phase 3
9 Hormone Antagonists Phase 3
10 Luteolytic Agents Phase 3
11 Contraceptive Agents Phase 3
12 Triptorelin Pamoate Phase 3
13 Androgens Phase 3
14 Cola Phase 3
15 Antimetabolites Phase 3
16 Immunosuppressive Agents Phase 3
17 Immunologic Factors Phase 3
18 Antimetabolites, Antineoplastic 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 Nutrients Not Applicable
24 Trace Elements Not Applicable
25 Antioxidants Not Applicable
26 Micronutrients Not Applicable
27 Protective Agents Not Applicable
28 Sodium Pertechnetate Tc 99m
29 Radiopharmaceuticals

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 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 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634 Not Applicable
8 Selenium Supplementation in Pregnancy Completed NCT01465867 Not Applicable
9 Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. Completed NCT01916018 Not Applicable
10 Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism Completed NCT02374593 Not Applicable Levothyroxine
11 TG Gene Mutations and Congenital Hypothyroidism Completed NCT00493103
12 Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism Completed NCT00497575
13 Generic vs. Name-Brand Levothyroxine Completed NCT00403390 Not Applicable Brand Name Levothyroxine (Synthroid);Generic formulation of Levothyroxine
14 A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication Completed NCT02307175
15 Clinical Evaluation of NeoPlex4 Assay and NeoPlex System Completed NCT01488721
16 Subjective Factors of Polymedication in the Elderly: a Qualitative Study of the Perceptions of Patients, Relatives and Referent Physicians.(DOSAGE) Recruiting NCT03309228
17 The Epidemiological Study for Bronchopulmonary Dysplasia (BPD) in China Recruiting NCT03850457
18 Hypothyroidism With Congenital Heart Disease (CHD) Not yet recruiting NCT03496363
19 The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism Withdrawn NCT01223638

Search NIH Clinical Center for Neonatal Hypothyroidism

Genetic Tests for Neonatal Hypothyroidism

Anatomical Context for Neonatal Hypothyroidism

MalaCards organs/tissues related to Neonatal Hypothyroidism:

42
Thyroid, Testes, Brain, Bone, Heart, Pituitary, Breast

Publications for Neonatal Hypothyroidism

Articles related to Neonatal Hypothyroidism:

(show top 50) (show all 1748)
# Title Authors Year
1
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation. ( 30529133 )
2019
2
The Evaluation of Etiological Distribution and the Rate of Congenital Hypothyroidism among the Cases Referred from National Screening Program. ( 30630811 )
2019
3
An exonic splicing enhancer mutation in DUOX2 causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs. ( 30651277 )
2019
4
Determining the TSH reference range in national newborn screening program for congenital hypothyroidism. ( 30700177 )
2019
5
Zebrafish duox mutations provide a model for human congenital hypothyroidism. ( 30700401 )
2019
6
Supratherapeutic maternal iodine supplementation during pregnancy as a cause for congenital hypothyroidism. ( 30746884 )
2019
7
Novel non-synonymous mutations of PAX8 in a cohort of chinese with congenital hypothyroidism. ( 30888984 )
2019
8
Evaluation of the congenital hypothyroidism screening programme in Iran: a 3-year retrospective cohort study. ( 29540462 )
2019
9
Mean high dose L-thyroxine treatment is efficient and safe to achieve a normal IQ in young adult patients with congenital hypothyroidism. ( 29325045 )
2018
10
Congenital Hypothyroidism. ( 29405999 )
2018
11
Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015. ( 29715190 )
2018
12
Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats. ( 29762250 )
2018
13
microRNA-124-3p inhibits the progression of congenital hypothyroidism via targeting programmed cell death protein 6. ( 29805523 )
2018
14
Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. ( 29977049 )
2018
15
Does initial dosing of levothyroxine in infants with congenital hypothyroidism lead to frequent dose adjustments secondary to iatrogenic hyperthyroidism on follow-up? ( 29715192 )
2018
16
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
17
A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism. ( 29759035 )
2018
18
The Protective effect of P7C3 against DNA and neuron damage in rat pups with congenital hypothyroidism. ( 29665652 )
2018
19
c-Fos downregulation positively regulates EphA5 expression in a congenital hypothyroidism rat model. ( 29330744 )
2018
20
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. ( 29881532 )
2018
21
Congenital Hypothyroidism Due to Dyshormonogenesis in 2 Siblings. ( 29450818 )
2018
22
The Effects of De-Whiskering and Congenital Hypothyroidism on The Development of Nitrergic Neurons in Rat Primary Somatosensory and Motor Cortices. ( 29633592 )
2018
23
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. ( 29650690 )
2018
24
Genetic and functional analysis of two missense<i>DUOX2</i>mutations in congenital hypothyroidism and goiter. ( 29435108 )
2018
25
Congenital Hypothyroidism Screening in Term Neonates using Umbilical Cord Blood TSH Values. ( 29911045 )
2018
26
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations. ( 29790453 )
2018
27
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
28
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
29
Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism. ( 29335252 )
2018
30
Early determinants of thyroid function outcome in children with congenital hypothyroidism and a normally located thyroid gland: a regional cohort study. ( 29968521 )
2018
31
Gender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen. ( 29945892 )
2018
32
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence? ( 29326865 )
2018
33
Congenital hypothyroidism. ( 29804102 )
2018
34
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism. ( 29146476 )
2018
35
A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report. ( 29720101 )
2018
36
Association between monoallelic<i>TSHR</i>mutations and congenital hypothyroidism: a statistical approach. ( 29092890 )
2018
37
The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand. ( 29750647 )
2018
38
Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey. ( 29750648 )
2018
39
Central congenital hypothyroidism caused by maternal thyrotoxicosis. ( 29572363 )
2018
40
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. ( 30508507 )
2018
41
Myxoedema coma in a 2-year-old girl with untreated congenital hypothyroidism: Case report and literature review. ( 30548708 )
2018
42
GLIS3 and Thyroid: A Pleiotropic Candidate Gene for Congenital Hypothyroidism. ( 30555422 )
2018
43
Statistical data analysis of the risk factors of Neonatal Congenital Hypothyroidism in Khuzestan Province, Iran. ( 30560160 )
2018
44
Maternal education and newborn thyroid-stimulating hormone level in a congenital hypothyroidism screening program. ( 30563393 )
2018
45
Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening. ( 30579585 )
2018
46
Alteration in Prooxidant-antioxidant Balance Associated with Selenium Concentration in Patients with Congenital Hypothyroidism. ( 30598633 )
2018
47
Higher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study. ( 30624500 )
2018
48
Prediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels. ( 30745478 )
2018
49
A rare complication of untreated congenital hypothyroidism in a Sudanese child. ( 30799903 )
2018
50
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

Variations for Neonatal Hypothyroidism

Expression for Neonatal Hypothyroidism

Search GEO for disease gene expression data for Neonatal Hypothyroidism.

Pathways for Neonatal Hypothyroidism

GO Terms for Neonatal Hypothyroidism

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

# Name GO ID Score Top Affiliating Genes
1 thyroid gland development GO:0030878 9.37 PAX8 TG
2 hormone biosynthetic process GO:0042446 9.32 TG TPO
3 thyroid hormone generation GO:0006590 9.26 SLC5A5 TPO
4 cellular response to gonadotropin stimulus GO:0071371 9.16 PAX8 SLC5A5
5 iodide transport GO:0015705 8.96 SLC5A5 TG
6 thyroid-stimulating hormone signaling pathway GO:0038194 8.62 PAX8 TSHR

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

# Name GO ID Score Top Affiliating Genes
1 thyroid-stimulating hormone receptor activity GO:0004996 8.62 PAX8 TSHR

Sources for Neonatal Hypothyroidism

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
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