Permanent Congenital Hypothyroidism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRM315 MIFTS: 26	Permanent Congenital Hypothyroidism Categories: Endocrine diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Permanent Congenital Hypothyroidism

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

Endocrine, nutritional and metabolic diseases

Disorders of thyroid gland

Other hypothyroidism

Congenital hypothyroidism with diffuse goitre

Congenital hypothyroidism without goitre

Orphanet: ⁵⁸

Rare endocrine diseases

External Ids:

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Summaries for Permanent Congenital Hypothyroidism

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 related phenotypes are sleep disturbance and constipation

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Related Diseases for Permanent Congenital Hypothyroidism

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

(show all 11)

#	Related Disease	Score	Top Affiliating Genes
1	congenital hypothyroidism	30.4	TPO DUOX2
2	hypothyroidism	30.4	TPO DUOX2
3	transient congenital hypothyroidism	29.9	TPO DUOX2
4	familial thyroid dyshormonogenesis	29.4	TPO DUOX2
5	goiter	29.3	TPO DUOX2
6	central congenital hypothyroidism	11.1
7	hypothyroidism, congenital, nongoitrous, 2	10.1
8	thyroid ectopia	10.1
9	primary congenital hypothyroidism	9.9
10	thyroid gland disease	9.6	TPO DUOX2
11	pendred syndrome	9.6	TPO DUOX2

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

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Symptoms & Phenotypes for Permanent Congenital Hypothyroidism

Human phenotypes related to Permanent Congenital Hypothyroidism:

⁵⁸ ³¹ (show all 21)

#	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	macroglossia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000158
5	coarse facial features ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000280
6	umbilical hernia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001537
7	jaundice ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000952
8	large fontanelles ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000239
9	feeding difficulties ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0011968
10	abdominal distention ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003270
11	hypotonia ³¹	hallmark (90%)		HP:0001252
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	goiter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000853
17	hoarse cry ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001615
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	muscular hypotonia ⁵⁸		Very frequent (99-80%)
21	abnormality of the face ⁵⁸		Very frequent (99-80%)

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Drugs & Therapeutics for Permanent Congenital Hypothyroidism

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

MalaCards organs/tissues related to Permanent Congenital Hypothyroidism:

⁴⁰

Thyroid

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Publications for Permanent Congenital Hypothyroidism

Articles related to Permanent Congenital Hypothyroidism:

(show top 50) (show all 69)

#	Title	Authors	PMID	Year
1	Pearls and Pitfalls in Pediatric Thyroid Imaging. ⁶¹	Silva CT...Navarro OM	32980089	2020
2	Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism ⁶¹	Asena M...Ozbek MN	31990163	2020
3	EPIDEMIOLOGIC CHARACTERISTICS AND RISK FACTORS FOR CONGENITAL HYPOTHYROIDISM FROM 2009 TO 2018 IN XIAMEN, CHINA. ⁶¹	Chen J...Che L	31968198	2020
4	Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data. ⁶¹	Long W...Yu B	32565793	2020
5	Increase in doses of levothyroxine at the age of 3 years and above is useful for distinguishing transient and permanent congenital hypothyroidism. ⁶¹	Yamamura H...Azuma H	33088013	2020
6	Prediction of Transient or Permanent Congenital Hypothyroidism. ⁶¹	Anne RP...Rahiman EA	31638015	2019
7	The value of serial newborn screening for congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit. ⁶¹	Findley TO...Khan A	31213638	2019
8	Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation. ⁶¹	McGrath N...Murphy NP	30529133	2019
9	Prediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels. ⁶¹	Scavone M...Talarico V	30745478	2018
10	A 7-year study on the prevalence of congenital hypothyroidism in northern Iran. ⁶¹	Beheshti Z...Saatsaz S	29881532	2018
11	Intelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism. ⁶¹	Rahmani K...Soori H	28952455	2018
12	Higher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study. ⁶¹	Aminzadeh M	30624500	2018
13	Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L. ⁶¹	Jones JH...Shaikh MG	27016213	2018
14	Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism. ⁶¹	Kang MJ...Hwang IT	28412200	2017
15	[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases]. ⁶¹	Enacan RE...Chiesa AE	28504502	2017
16	[Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis]. ⁶¹	Huang YL...Liu L	28273705	2017
17	Can One Predict Resolution of Neonatal Hyperthyrotropinemia? ⁶¹	Aguiar L...Tonyushkina K	27189684	2016
18	Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. ⁶¹	Fu C...Chen S	27108200	2016
19	High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. ⁶¹	Matsuo K...Fujieda K	27166716	2016
20	Thyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis. ⁶¹	Sindhuja L...Bhattacharya A	26684308	2016
21	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	Ford GA...LaFranchi SH	27595483	2016
22	Feasibility of an Early Discontinuation of Thyroid Hormone Treatment in Very-Low-Birth-Weight Infants at Risk for Transient or Permanent Congenital Hypothyroidism. ⁶¹	Jung JM...Chung ML	26812645	2016
23	Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. ⁶¹	Fu C...Chen S	26349762	2015
24	Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene. ⁶¹	Satoh M...Saji T	25928756	2015
25	Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake. ⁶¹	Olivieri A...Italian Study Group for Congenital Hypothyroidism	25403430	2015
26	Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland. ⁶¹	Messina MF...Lombardo F	26160341	2015
27	The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism. ⁶¹	Peltek Kendirci HN...Cetinkaya S	26422840	2015
28	Agenesis and not ectopia is common in North Indian children with thyroid dysgenesis. ⁶¹	Dayal D...Sachdeva N	25538886	2014
29	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	Hermanns P...Pohlenz J	24499175	2014
30	The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. ⁶¹	Muzza M...Fugazzola L	24423310	2014
31	High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. ⁶¹	Jin HY...Yoo HW	25248169	2014
32	Prevalence of permanent congenital hypothyroidism in isfahan-iran. ⁶¹	Hashemipour M...Dalvi M	24498491	2013
33	Prevalence of Permanent Congenital Hypothyroidism in Children in Yazd, Central Iran. ⁶¹	Ordooei M...Mirjalili F	26060662	2013
34	Monitoring and prognostic evaluation of patients with congenital hypothyroidism treated in a pediatric endocrinology unit. ⁶¹	Unuvar T...Bober E	24292031	2013
35	Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables. ⁶¹	Najmi SB...Ghasemi M	24174944	2013
36	Transient hypothyroidism at 3-year follow-up among cases of congenital hypothyroidism detected by newborn screening. ⁶¹	Korzeniewski SJ...Paneth N	22878110	2013
37	Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16). ⁶¹	Secchi LA...Neves Fde A	23295299	2012
38	Developmental defects of the thyroid gland: relationship with advanced maternal age. ⁶¹	Kirmizibekmez H...Dursun F	22672863	2012
39	Permanent and transient congenital hypothyroidism in preterm infants. ⁶¹	Srinivasan R...Cheetham T	22107264	2012
40	Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. ⁶¹	Narumi S...Hasegawa T	21900383	2011
41	Genetic causes of congenital hypothyroidism due to dyshormonogenesis. ⁶¹	Grasberger H...Refetoff S	21543982	2011
42	Thyroglobulin gene mutations in congenital hypothyroidism. ⁶¹	Targovnik HM...Rivolta CM	21372558	2011
43	Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis. ⁶¹	Thorwarth A...Ullmann R	20427504	2010
44	Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. ⁶¹	Maruo Y...Takeuchi Y	18765513	2008
45	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	Benvenga S...Braverman LE	19209623	2008
46	Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec. ⁶¹	Deladoey J...Van Vliet G	17504897	2007
47	[Congenital hypothyroidism]. ⁶¹	Carranza D...Polak M	17072233	2006
48	Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. ⁶¹	Grasberger H...Refetoff S	16189712	2005
49	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	Hopfner S...Rauterberg EW	16318620	2005
50	A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. ⁶¹	Ordookhani A...Azizi F	15506679	2004

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Genes for Permanent Congenital Hypothyroidism

Genes related to Permanent Congenital Hypothyroidism (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DUOX2	Dual Oxidase 2	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)
2	TPO	Thyroid Peroxidase	Protein Coding	7.43	GeneCards inferred via : Publications (show sections)

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Variations for Permanent Congenital Hypothyroidism

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Expression for Permanent Congenital Hypothyroidism

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

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Pathways for Permanent Congenital Hypothyroidism

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 Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	11.73	TPO DUOX2
2	Amine-derived hormones ⁶⁵ Show member pathways Regulation of thyroid hormone activity ⁶⁵ serotonin and melatonin biosynthesis ¹ Serotonin and melatonin biosynthesis ⁶⁵ Thyroxine biosynthesis ⁶⁵	10.23	TPO DUOX2

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GO Terms for Permanent Congenital Hypothyroidism

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia