Congenital Hypothyroidism (CH)

Alias:
Cretinism
Congenital Iodine-Deficiency Hypothyroidism Nos
Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome
Myxedema, Congenital
Congenital Myxedema
Endemic Cretinism
Cht
Ch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Hypothyroidism, also known as cretinism, is related to hypothyroidism, congenital, nongoitrous, 2 and diabetes mellitus, neonatal, with congenital hypothyroidism. An important gene associated with Congenital Hypothyroidism is TG (Thyroglobulin), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and G alpha (s) signalling events. The drugs Pharmaceutical Solutions and Iodine have been mentioned in the context of this disorder. Affiliated tissues include thyroid and pituitary, and related phenotypes are homeostasis/metabolism and growth/size/body region
Related ID:
MESH:D003409
ICD11:602450215

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
1-5/10000
85
899
26

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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