congenital hypothyroidism

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Information
Disease name
congenital hypothyroidism
Disease ID
DOID:0050328
Description
"A hypothyroidism that is present at birth." [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
DUOX2 15 45,092,650 45,114,172 132
NKX2-1 14 36,516,397 36,520,232 4
SFTA3 14 36,473,288 36,521,149 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT05228184 Active, not recruiting Phase 4 Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH) January 21, 2022 April 30, 2025
NCT00493103 Completed TG Gene Mutations and Congenital Hypothyroidism July 2003 June 2007
NCT00497575 Completed Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism October 1999 September 2006
NCT00403390 Completed N/A Generic vs. Name-Brand Levothyroxine November 2006 March 2010
NCT01488721 Completed Clinical Evaluation of NeoPlex4 Assay and NeoPlex System December 2011 April 2012
NCT01916018 Completed N/A Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis. September 17, 2013 March 17, 2017
NCT02307175 Completed A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication September 1, 2014 October 31, 2016
NCT02374593 Completed N/A Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism March 2014 May 2016
NCT05371262 Completed Phase 4 Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism May 2011 May 2018
NCT03655223 Enrolling by invitation Early Check: Expanded Screening in Newborns October 15, 2018 December 31, 2025
NCT05687474 Recruiting Baby Detect : Genomic Newborn Screening September 1, 2022 August 31, 2025
NCT04712760 Unknown status Congenital Hypothyroidism in Children With Eutopic Gland or Thyroid Hemiagenesis: Predictive Factors for Transient vs Permanent Hypothyroidism. February 22, 2021 April 1, 2021
NCT04734457 Unknown status Final Height in Patients With CH Diagnosed by the Screening November 2, 2021 April 1, 2022
NCT00505479 Unknown status Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy? May 2007 May 2010
NCT01223638 Withdrawn The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism September 2010 June 2015
Disase is a (Disease Ontology)
DOID:1459
Cross Reference ID (Disease Ontology)
GARD:1487
Cross Reference ID (Disease Ontology)
ICD10CM:E00.1
Cross Reference ID (Disease Ontology)
ICD10CM:E03.1
Cross Reference ID (Disease Ontology)
ICD9CM:243
Cross Reference ID (Disease Ontology)
MESH:D003409
Cross Reference ID (Disease Ontology)
MIM:PS275200
Cross Reference ID (Disease Ontology)
NCI:C26734
Cross Reference ID (Disease Ontology)
NCI:C98921
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:217710005
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:75065003
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0010308
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0342200
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000851
OrphaNumber from OrphaNet (Orphanet)
442
MedGen concept unique identifier (MedGen Concept name)
C0010308
MedGen unique identifier (MedGen Concept name)
41344
MeSH unique ID (MeSH (Medical Subject Headings))
D003409