MCID: PRM316
MIFTS: 30

Primary Congenital Hypothyroidism

Categories: Endocrine diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Primary Congenital Hypothyroidism

MalaCards integrated aliases for Primary Congenital Hypothyroidism:

Name: Primary Congenital Hypothyroidism 59

Characteristics:

Orphanet epidemiological data:

59
primary congenital hypothyroidism
Prevalence: 1-5/10000 (Europe);

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 34 E03.0 E03.1
Orphanet 59 ORPHA226295

Summaries for Primary Congenital Hypothyroidism

MalaCards based summary : Primary Congenital Hypothyroidism is related to hypothyroidism, congenital, nongoitrous, 2 and goiter. An important gene associated with Primary Congenital Hypothyroidism is PAX8 (Paired Box 8), and among its related pathways/superpathways is Human Thyroid Stimulating Hormone (TSH) signaling pathway. Affiliated tissues include thyroid, testes and pituitary, and related phenotypes are hypothyroidism and muscular hypotonia

Related Diseases for Primary Congenital Hypothyroidism

Diseases in the Hypothyroidism family:

Congenital Hypothyroidism Central Congenital Hypothyroidism
Hypothyroidism Due to Iodide Transport Defect Rare Adult Hypothyroidism
Transient Congenital Hypothyroidism Rare Hypothyroidism
Primary Congenital Hypothyroidism Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function
Congenital Hypothyroidism Due to Maternal Intake of Antithyroid Drugs Transient Congenital Hypothyroidism Due to Maternal Factor
Transient Congenital Hypothyroidism Due to Neonatal Factor Congenital Hypothyroidism Due to Transplacental Passage of Tsh-Binding Inhibitory Antibodies
Congenital Hypothyroidism Due to Developmental Anomaly

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 hypothyroidism, congenital, nongoitrous, 2 30.4 TSHR PAX8 NKX2-1 FOXE1
2 goiter 29.0 TSHR PAX8 NKX2-1
3 hypothyroidism 28.9 TSHR PAX8 NKX2-1 FOXE1
4 congenital hypothyroidism 28.8 TSHR PAX8 NKX2-1 FOXE1
5 athyreosis 27.9 TSHR PAX8 NKX2-1 FOXE1
6 primary congenital hypothyroidism without thyroid developmental anomaly 12.3
7 congenital hypothyroidism due to developmental anomaly 11.3
8 thyroid dyshormonogenesis 1 11.2
9 macroglossia 9.9
10 constipation 9.9
11 neonatal jaundice 9.9
12 familial thyroid dyshormonogenesis 9.9
13 neonatal thyrotoxicosis 9.8 TSHR PAX8
14 pendred syndrome 9.8
15 alcohol-related neurodevelopmental disorder 9.8
16 umbilical hernia 9.8
17 hyperthyroidism 9.8
18 ileus 9.8
19 hypopituitarism 9.8
20 hypoglycemia 9.8
21 encephalopathy 9.8
22 permanent congenital hypothyroidism 9.8
23 struma ovarii 9.8 TSHR NKX2-1
24 rete testis neoplasm 9.8 PAX8 NKX2-1
25 renal cell carcinoma, nonpapillary 9.8 PAX8 NKX2-1
26 papillary thyroid microcarcinoma 9.6 TSHR NKX2-1
27 thymus cancer 9.5 PAX8 NKX2-1
28 hypothyroidism, congenital, nongoitrous, 1 9.4 TSHR FOXE1
29 multinodular goiter 9.4 TSHR PAX8 NKX2-1
30 follicular adenoma 9.4 TSHR PAX8 NKX2-1
31 papillary carcinoma 9.4 TSHR PAX8 NKX2-1
32 thyroid cancer, nonmedullary, 2 9.3 TSHR PAX8 NKX2-1
33 thyroid gland disease 8.7 TSHR PAX8 NKX2-1 FOXE1
34 differentiated thyroid carcinoma 8.7 TSHR PAX8 NKX2-1 FOXE1

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



Diseases related to Primary Congenital Hypothyroidism

Symptoms & Phenotypes for Primary Congenital Hypothyroidism

Human phenotypes related to Primary Congenital Hypothyroidism:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
4 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
5 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
6 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
7 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
8 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
9 hypothermia 59 32 frequent (33%) Frequent (79-30%) HP:0002045
10 sleep disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0002360
11 macroglossia 59 32 frequent (33%) Frequent (79-30%) HP:0000158
12 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
13 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
14 large fontanelles 59 32 frequent (33%) Frequent (79-30%) HP:0000239
15 thyroid dysgenesis 59 32 frequent (33%) Frequent (79-30%) HP:0008188
16 abnormality of the face 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Primary Congenital Hypothyroidism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.26 FOXE1 NKX2-1 PAX8 TSHR
2 growth/size/body region MP:0005378 8.92 FOXE1 NKX2-1 PAX8 TSHR

Drugs & Therapeutics for Primary Congenital Hypothyroidism

Search Clinical Trials , NIH Clinical Center for Primary Congenital Hypothyroidism

Genetic Tests for Primary Congenital Hypothyroidism

Anatomical Context for Primary Congenital Hypothyroidism

MalaCards organs/tissues related to Primary Congenital Hypothyroidism:

41
Thyroid, Testes, Pituitary, Brain, Bone, Cortex, Fetal Thyroid

Publications for Primary Congenital Hypothyroidism

Articles related to Primary Congenital Hypothyroidism:

(show top 50) (show all 115)
# Title Authors PMID Year
1
Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. 38
31430255 2019
2
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population. 38
31061744 2019
3
Neonatal Thyroid Disease: Testing and Management. 38
30819341 2019
4
Newborn Screening for Primary Congenital Hypothyroidism: Estimating Test Performance at Different TSH Thresholds. 38
30113641 2018
5
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis. 38
30304112 2018
6
Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations. 38
29790453 2018
7
Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016. 38
30024866 2018
8
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. 38
29380252 2018
9
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. 38
29881532 2018
10
Genetics of Primary Congenital Hypothyroidism. 38
29493125 2018
11
Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis. 38
30662777 2018
12
Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. 38
28749785 2017
13
Etiological evaluation of primary congenital hypothyroidism cases. 38
28747839 2017
14
[The incidence of congenital hypothyroidism is increasing]. 38
28648169 2017
15
Primary Care Provider Management of Congenital Hypothyroidism Identified Through Newborn Screening. 38
28868522 2017
16
Congenital hypothyroidism: insights into pathogenesis and treatment. 38
29026407 2017
17
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran. 38
28144251 2016
18
Regional hypoplasia of somatosensory cortex in growth-retarded mice (grt/grt). 38
26915353 2016
19
Levothyroxine replacement in primary congenital hypothyroidism: the higher the initial dose the higher the rate of overtreatment. 38
26244672 2016
20
Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism. 38
26356361 2016
21
Single newborn screen or routine second screening for primary congenital hypothyroidism. 38
26293295 2015
22
Guidelines for Mass Screening of Congenital Hypothyroidism (2014 revision). 38
26594093 2015
23
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. 38
25720050 2015
24
Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome. 38
25750738 2015
25
Prolonged ileus in an infant presenting with primary congenital hypothyroidism. 38
25866693 2015
26
Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature. 38
23379327 2013
27
Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. 38
23681264 2013
28
The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance. 38
23404215 2013
29
[Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit]. 38
23329185 2012
30
Birth prevalence of disorders detectable through newborn screening by race/ethnicity. 38
22766612 2012
31
Congenital anomalies in infant with congenital hypothyroidism. 38
23074545 2012
32
Evaluation of congenital hypothyroidism in fars province, iran. 38
23056868 2012
33
Molecular analysis of the PAX8 gene in a sample of Mexican patients with primary congenital hypothyroidism: identification of the recurrent p.Arg31His mutation. 38
21689132 2012
34
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism. 38
21707688 2011
35
Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis. 38
20584796 2011
36
The role of ultrasonography in primary congenital hypothyroidism. 38
22973380 2011
37
[Impact of L-thyroxine replacement therapy on pituitary changes secondary to congenital primary hypothyroidism--three cases report]. 38
21870710 2011
38
[Magnetic resonance imaging and hormonal profile of the pituitary gland in patients with primary congenital hypothyroidism]. 38
21595170 2011
39
High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. 38
21714466 2010
40
The epidemiology of environmental perchlorate exposure and thyroid function: a comprehensive review. 38
20523234 2010
41
Future research directions to identify causes of the increasing incidence rate of congenital hypothyroidism in the United States. 38
20435719 2010
42
Prevalence of congenital hypothyroidism--current trends and future directions: workshop summary. 38
20435715 2010
43
Effect of laboratory practices on the incidence rate of congenital hypothyroidism. 38
20435717 2010
44
The impact of transient hypothyroidism on the increasing rate of congenital hypothyroidism in the United States. 38
20435718 2010
45
Trends in incidence rates of congenital hypothyroidism related to select demographic factors: data from the United States, California, Massachusetts, New York, and Texas. 38
20435716 2010
46
[Analysis of changes in peripheral and central nervous system in irregularly treated adult patients with primary congenital hypothyroidism]. 38
20815165 2010
47
Increased incidence of extrathyroidal congenital malformations in Japanese patients with congenital hypothyroidism and their relationship with Down syndrome and other factors. 38
19534617 2009
48
Neonatal screening for congenital hypothyroidism in the Federation of Bosnia and Herzegovina: eight years' experience. 38
18668261 2009
49
Is umbilical cord blood total thyroxin measurement effective in newborn screening for hypothyroidism? 38
19805752 2009
50
Newborn screening. 38
18203033 2008

Variations for Primary Congenital Hypothyroidism

Expression for Primary Congenital Hypothyroidism

Search GEO for disease gene expression data for Primary Congenital Hypothyroidism.

Pathways for Primary Congenital Hypothyroidism

Pathways related to Primary Congenital Hypothyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.46 TSHR PAX8

GO Terms for Primary Congenital Hypothyroidism

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.33 PAX8 NKX2-1 FOXE1
2 anatomical structure morphogenesis GO:0009653 9.26 PAX8 FOXE1
3 thyroid-stimulating hormone signaling pathway GO:0038194 8.96 TSHR PAX8
4 thyroid gland development GO:0030878 8.8 PAX8 NKX2-1 FOXE1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.33 PAX8 NKX2-1 FOXE1
2 transcription regulatory region DNA binding GO:0044212 9.26 PAX8 NKX2-1
3 sequence-specific DNA binding GO:0043565 9.13 PAX8 NKX2-1 FOXE1
4 thyroid-stimulating hormone receptor activity GO:0004996 8.62 TSHR PAX8

Sources for Primary Congenital Hypothyroidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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