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MCID: PRM315
MIFTS: 27

Permanent Congenital Hypothyroidism

Categories: Endocrine diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Permanent Congenital Hypothyroidism

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MalaCards integrated aliases for Permanent Congenital Hypothyroidism:

Name: Permanent Congenital Hypothyroidism 58

Characteristics:

Orphanet epidemiological data:

58
permanent congenital hypothyroidism
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


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Summaries for Permanent Congenital Hypothyroidism

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MalaCards based summary : Permanent Congenital Hypothyroidism is related to congenital hypothyroidism and hypothyroidism. An important gene associated with Permanent Congenital Hypothyroidism is DUOX2 (Dual Oxidase 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Amine-derived hormones. Affiliated tissues include thyroid and testes, and related phenotypes are sleep disturbance and constipation

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Related Diseases for Permanent Congenital Hypothyroidism

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 congenital hypothyroidism 30.1 TPO DUOX2
2 hypothyroidism 30.1 TPO DUOX2
3 transient congenital hypothyroidism 29.5 TPO DUOX2
4 familial thyroid dyshormonogenesis 29.0 TPO DUOX2
5 goiter 28.9 TPO DUOX2
6 central congenital hypothyroidism 11.3
7 thyroid ectopia 10.0
8 hypothyroidism, congenital, nongoitrous, 2 9.9
9 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
10 48,xyyy 9.9
11 primary congenital hypothyroidism 9.9
12 pendred syndrome 9.4 TPO DUOX2

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



Diseases related to Permanent Congenital Hypothyroidism
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Symptoms & Phenotypes for Permanent Congenital Hypothyroidism

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Human phenotypes related to Permanent Congenital Hypothyroidism:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sleep disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0002360
2 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
3 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
6 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
7 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
8 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
9 jaundice 58 31 hallmark (90%) Very frequent (99-80%) HP:0000952
10 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
11 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
12 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
13 hypothermia 58 31 frequent (33%) Frequent (79-30%) HP:0002045
14 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
15 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
16 hoarse cry 58 31 frequent (33%) Frequent (79-30%) HP:0001615
17 goiter 58 31 frequent (33%) Frequent (79-30%) HP:0000853
18 thyroid dysgenesis 58 31 frequent (33%) Frequent (79-30%) HP:0008188
19 tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002445
20 abnormality of the face 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Permanent Congenital Hypothyroidism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 DUOX2 TPO
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Drugs & Therapeutics for Permanent Congenital Hypothyroidism

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Search Clinical Trials , NIH Clinical Center for Permanent Congenital Hypothyroidism

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Genetic Tests for Permanent Congenital Hypothyroidism

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Anatomical Context for Permanent Congenital Hypothyroidism

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MalaCards organs/tissues related to Permanent Congenital Hypothyroidism:

40
Thyroid, Testes
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Publications for Permanent Congenital Hypothyroidism

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Articles related to Permanent Congenital Hypothyroidism:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Validity of 6th month L-Thyroxine Dose for Differentiation of Transient-Permanent Congenital Hypothyroidism 61
31990163 2020
2
Prediction of Transient or Permanent Congenital Hypothyroidism. 61
31638015 2019
3
The value of serial newborn screening for congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit. 61
31213638 2019
4
Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation. 61
30529133 2019
5
Prediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels. 61
30745478 2018
6
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. 61
29881532 2018
7
Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism. 61
28952455 2018
8
Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L. 61
27016213 2018
9
Higher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study. 61
30624500 2018
10
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. 61
28412200 2017
11
[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases]. 61
28504502 2017
12
[Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis]. 61
28273705 2017
13
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 61
27108200 2016
14
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. 61
27166716 2016
15
Can One Predict Resolution of Neonatal Hyperthyrotropinemia? 61
27189684 2016
16
Thyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis. 61
26684308 2016
17
Feasibility of an Early Discontinuation of Thyroid Hormone Treatment in Very-Low-Birth-Weight Infants at Risk for Transient or Permanent Congenital Hypothyroidism. 61
26812645 2016
18
Transient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA. 61
27595483 2016
19
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 61
26349762 2015
20
Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene. 61
25928756 2015
21
Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. 61
25403430 2015
22
The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism. 61
26422840 2015
23
Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland. 61
26160341 2015
24
Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis. 61
25538886 2014
25
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome. 61
24499175 2014
26
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 61
24423310 2014
27
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 61
25248169 2014
28
Prevalence of permanent congenital hypothyroidism in isfahan-iran. 61
24498491 2013
29
Prevalence of Permanent Congenital Hypothyroidism in Children in Yazd, Central Iran. 61
26060662 2013
30
Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit. 61
24292031 2013
31
Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. 61
24174944 2013
32
Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. 61
22878110 2013
33
Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). 61
23295299 2012
34
Developmental defects of the thyroid gland: relationship with advanced maternal age. 61
22672863 2012
35
Permanent and transient congenital hypothyroidism in preterm infants. 61
22107264 2012
36
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 61
21900383 2011
37
Genetic causes of congenital hypothyroidism due to dyshormonogenesis. 61
21543982 2011
38
Thyroglobulin gene mutations in congenital hypothyroidism. 61
21372558 2011
39
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. 61
20427504 2010
40
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 61
18765513 2008
41
Detection of circulating autoantibodies against thyroid hormones in an infant with permanent congenital hypothyroidism and her twin with transient congenital hypothyroidism: possible contribution of thyroid hormone autoantibodies to neonatal and infant hypothyroidism. 61
19209623 2008
42
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec. 61
17504897 2007
43
[Congenital hypothyroidism]. 61
17072233 2006
44
Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. 61
16189712 2005
45
Neonatal screening for congenital hypothyroidism in Hessen, Germany: efficiency of the screening program and school achievement of 129 children at an age of 8-12 years. 61
16318620 2005
46
A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. 61
15506679 2004
47
Accuracy of ultrasonography to establish the diagnosis and aetiology of permanent primary congenital hypothyroidism. 61
12919160 2003
48
Foetal and neonatal thyroid disorders. 61
12244277 2002
49
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 61
12110737 2002
50
Confirming congenital hypothyroidism identified from neonatal screening. 61
12137163 2002
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Variations for Permanent Congenital Hypothyroidism

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Expression for Permanent Congenital Hypothyroidism

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Search GEO for disease gene expression data for Permanent Congenital Hypothyroidism.
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Pathways for Permanent Congenital Hypothyroidism

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

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 36
Show member pathways
 11.73 TPO DUOX2
2
Amine-derived hormones 65
Show member pathways
 10.23 TPO DUOX2
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GO Terms for Permanent Congenital Hypothyroidism

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

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 8.62 TPO DUOX2

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.37 TPO DUOX2
2 response to oxidative stress GO:0006979 9.32 TPO DUOX2
3 cellular oxidant detoxification GO:0098869 9.26 TPO DUOX2
4 hydrogen peroxide catabolic process GO:0042744 9.16 TPO DUOX2
5 thyroid hormone generation GO:0006590 8.96 TPO DUOX2
6 hormone biosynthetic process GO:0042446 8.62 TPO DUOX2

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.26 TPO DUOX2
2 oxidoreductase activity GO:0016491 9.16 TPO DUOX2
3 heme binding GO:0020037 8.96 TPO DUOX2
4 peroxidase activity GO:0004601 8.62 TPO DUOX2
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Sources for Permanent Congenital Hypothyroidism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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