MCID: NNT019
MIFTS: 39

Neonatal Hypothyroidism

Categories: Rare diseases

Aliases & Classifications for Neonatal Hypothyroidism

MalaCards integrated aliases for Neonatal Hypothyroidism:

Name: Neonatal Hypothyroidism 53
Congenital Hypothyroidism 73
Endemic Cretinism 73
Cretinism 53

Classifications:



Summaries for Neonatal Hypothyroidism

MalaCards based summary : Neonatal Hypothyroidism, also known as congenital hypothyroidism, is related to thyroiditis and hyperthyroidism. An important gene associated with Neonatal Hypothyroidism is PAX8 (Paired Box 8), 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, brain and testes, 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 64)
# Related Disease Score Top Affiliating Genes
1 thyroiditis 28.8 TG TPO TSHR
2 hyperthyroidism 28.3 TG TPO TSHR
3 hypothyroidism, congenital, nongoitrous, 2 28.2 PAX8 TG TSHR
4 hypothyroidism 28.1 PAX8 SLC5A5 TG TPO TSHR
5 congenital hypothyroidism 26.6 PAX8 SLC5A5 TG TPO TSHR
6 goiter 26.4 PAX8 SLC5A5 TG TPO TSHR
7 cretinism athyreotic 11.9
8 fetal iodine deficiency disorder 11.4
9 water-clear cell adenoma 10.1 PAX8 TG
10 subacute lymphocytic thyroiditis 10.0 TG TPO
11 goiter, multinodular 1, with or without sertoli-leydig cell tumors 10.0 TG TPO
12 acute cystitis 10.0 ADCY10 SLC5A5
13 plummer's disease 9.9 TG TPO
14 premature menopause 9.9 TG TPO
15 hypothyroidism, congenital, nongoitrous, 4 9.9 TG TPO
16 phenylketonuria 9.9
17 pernicious anemia 9.8 TG TPO
18 neonatal thyrotoxicosis 9.8 PAX8 TSHR
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 TG TPO
20 cerebritis 9.8
21 audiogenic seizures 9.7
22 turner syndrome 9.7 TG TPO
23 hyperthyroxinemia 9.6 TPO TSHR
24 benign struma ovarii 9.6 TG TSHR
25 thyroid cancer, nonmedullary, 1 9.6 PAX8 TG
26 hepatitis 9.6
27 prostatitis 9.6
28 pancreatitis 9.6
29 neuronitis 9.6
30 galactorrhea 9.6
31 rubella 9.6
32 galactosemia 9.6
33 intracranial hypertension, idiopathic 9.6
34 lesch-nyhan syndrome 9.6
35 aging 9.6
36 struma ovarii 9.6 TG TSHR
37 anaplastic thyroid cancer 9.5 PAX8 TG TPO
38 pendred syndrome 9.5 PAX8 TG TPO
39 endocrine gland cancer 9.5 PAX8 SLC5A5 TG
40 familial thyroid dyshormonogenesis 9.5 SLC5A5 TG TPO
41 papillary thyroid microcarcinoma 9.4 TG TSHR
42 exophthalmos 9.4 TG TSHR
43 athyreosis 9.2 PAX8 TG TSHR
44 immune system disease 9.2 TG TSHR
45 celiac disease 1 9.2 TG TPO
46 endemic goiter 9.1 TG TPO TSHR
47 graves disease 1 9.1 TG TPO TSHR
48 nontoxic goiter 9.1 TG TPO TSHR
49 myxedema 9.1 TG TPO TSHR
50 toxic diffuse goiter 9.1 TG TPO TSHR

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:

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 PAX8 SLC5A5 TG TPO TSHR
2 homeostasis/metabolism MP:0005376 9.1 ADCY10 PAX8 SLC5A5 TG TPO TSHR

Drugs & Therapeutics for Neonatal Hypothyroidism

Drugs for Neonatal 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 Triptorelin Pamoate Phase 3
6 Contraceptive Agents Phase 3
7 Androgen Antagonists Phase 3
8 Androgens Phase 3
9 Hormone Antagonists Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
11 Luteolytic Agents Phase 3
12 Antineoplastic Agents, Hormonal Phase 3
13 Antimetabolites Phase 3
14 Antimetabolites, Antineoplastic Phase 3
15
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
16
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
17
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
18
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
19 Prednisolone acetate Phase 2
20 Methylprednisolone acetate Phase 2
21 Methylprednisolone Hemisuccinate Phase 2
22 Albumin-Bound Paclitaxel Phase 2
23 Histamine Antagonists Phase 2
24 Histamine H1 Antagonists Phase 2
25 Histamine H2 Antagonists Phase 2
26 Prednisolone hemisuccinate Phase 2
27 Prednisolone phosphate Phase 2
28 Antimitotic Agents Phase 2
29 Antineoplastic Agents, Phytogenic 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 Micronutrients Not Applicable
35 Sodium Pertechnetate Tc 99m
36 Trace Elements Not Applicable
37 Antioxidants Not Applicable
38 Protective Agents Not Applicable
39 Radiopharmaceuticals

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 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 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 Neonatal Hypothyroidism

Genetic Tests for Neonatal Hypothyroidism

Anatomical Context for Neonatal Hypothyroidism

MalaCards organs/tissues related to Neonatal Hypothyroidism:

41
Thyroid, Brain, Testes, Bone, Heart, Testis, Prostate

Publications for Neonatal Hypothyroidism

Articles related to Neonatal Hypothyroidism:

(show top 50) (show all 1044)
# 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
Neonatal hypothyroidism affects testicular glucose homeostasis through increased oxidative stress in prepubertal mice: effects on GLUT3, GLUT8 and Cx43. ( 28471544 )
2017
36
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. ( 28100324 )
2017
37
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
38
Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis. ( 28455095 )
2017
39
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Familya8c. ( 28359061 )
2017
40
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. ( 28749785 )
2017
41
Transient Congenital Hypothyroidism Alters Gene Expression of Glucose Transporters and Impairs Glucose Sensing Apparatus in Young and Aged Offspring Rats. ( 29073628 )
2017
42
Intellectual development in preschool children with early treated congenital hypothyroidism. ( 28690988 )
2017
43
Etiological evaluation of primary congenital hypothyroidism cases. ( 28747839 )
2017
44
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
45
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. ( 28541007 )
2017
46
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. ( 28215547 )
2017
47
Prevalence of Congenital Hypothyroidism in Northern Border Region of Kingdom of Saudi Arabia. ( 28285292 )
2017
48
Effects of L-thyroxine treatment on heart functions in infants with congenital hypothyroidism. ( 28358714 )
2017
49
Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted? ( 28694389 )
2017
50
TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM. ( 28683242 )
2017

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 thyroid hormone generation GO:0006590 9.32 SLC5A5 TPO
3 hormone biosynthetic process GO:0042446 9.26 TG 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 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
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