MCID: NNT019
MIFTS: 41

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:



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 Iodine and Selenium 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 76)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 4 31.5 TG TPO
2 endemic goiter 30.3 TG TPO TSHR
3 hypothyroidism 30.2 PAX8 SLC5A5 TG TPO TSHR
4 myxedema 30.0 TG TPO TSHR
5 hyperthyroidism 29.5 TG TPO TSHR
6 thyroiditis 29.3 TG TPO TSHR
7 hypothyroidism, congenital, nongoitrous, 2 29.3 PAX8 TG TSHR
8 congenital hypothyroidism 28.8 PAX8 SLC5A5 TG TPO TSHR
9 goiter 28.6 PAX8 SLC5A5 TG TPO TSHR
10 cretinism athyreotic 12.3
11 fetal iodine deficiency disorder 11.6
12 neonatal thyrotoxicosis 10.0 PAX8 TSHR
13 benign struma ovarii 10.0 TG TSHR
14 struma ovarii 10.0 TG TSHR
15 postsurgical hypothyroidism 10.0 TG TSHR
16 phenylketonuria 10.0
17 water-clear cell adenoma 10.0 PAX8 TG
18 acute cystitis 10.0 ADCY10 SLC5A5
19 papillary thyroid microcarcinoma 10.0 TG TSHR
20 hashimoto encephalopathy 9.9 TPO TSHR
21 exophthalmos 9.9 TG TSHR
22 amyotrophic lateral sclerosis 1 9.9
23 multiple sclerosis 9.9
24 cystathioninuria 9.9
25 umbilical hernia 9.9
26 hypogonadotropic hypogonadism 9.9
27 rickets 9.9
28 hypophosphatasia 9.9
29 lateral sclerosis 9.9
30 neonatal jaundice 9.9
31 syphilis 9.9
32 mutism 9.9
33 ovarian cyst 9.9
34 congenital syphilis 9.9
35 precocious puberty 9.9
36 pyridoxine deficiency 9.9
37 hyperthyroxinemia 9.9 TPO TSHR
38 subacute lymphocytic thyroiditis 9.9 TG TPO
39 goiter, multinodular 1, with or without sertoli-leydig cell tumors 9.9 TG TPO
40 athyreosis 9.9 PAX8 TG TSHR
41 plummer's disease 9.9 TG TPO
42 premature menopause 9.8 TG TPO
43 pernicious anemia 9.8 TG TPO
44 audiogenic seizures 9.8
45 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 9.8 TG TPO
46 endocrine gland cancer 9.8 PAX8 TG
47 turner syndrome 9.8 TG TPO
48 graves disease 1 9.7 TG TPO TSHR
49 nontoxic goiter 9.7 TG TPO TSHR
50 toxic diffuse goiter 9.7 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 9.55 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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Not Applicable 7553-56-2 807
2
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
3
Methionine Approved, Nutraceutical Not Applicable 63-68-3 6137
4 cadexomer iodine Not Applicable
5 Antioxidants Not Applicable
6 Micronutrients Not Applicable
7 Trace Elements Not Applicable
8 Protective Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effects of Iodized Salt on Cognitive Development in Ethiopia Completed NCT01349634 Not Applicable
2 Selenium Supplementation in Pregnancy Completed NCT01465867 Not Applicable

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, Testes, Brain, Bone, Heart, Pituitary, Testis

Publications for Neonatal Hypothyroidism

Articles related to Neonatal Hypothyroidism:

(show top 50) (show all 1276)
# 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

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 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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