Hypothyroidism, Congenital, Nongoitrous, 1 (CHNG1)

Alias:
Tsh Resistance
Hypothyroidism Due to Tsh Receptor Mutations
Chng1
Hypothyroidism Due to Unresponsiveness to Thyrotropin
Congenital Nongoitrous Hypothyroidism 1
Thyrotropin Resistance
Rtsh
Hypothyroidism, Congenital, Due to Tsh Resistance
Congenital Hypothyroidism Due to Tsh Resistance
Hypothyroidism, Congenital, Nongoitrous, Type 1
Hypothyroidism, Congenital, Non-Goitrous, 1
Thyroid-Stimulating Hormone, Resistance to
Hypothyroidism, Congenital, Nongoitrous, 3
Thyroid-Stimulating Hormone Resistance
Thyroid Hormone Resistance Syndrome
Hypothyroidism, Nonautoimmune
Non-Autoimmune Hypothyroidism
Thyroid-Stimulating Hormone
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypothyroidism, Congenital, Nongoitrous, 1, also known as tsh resistance, is related to familial hyperthyroidism due to mutations in tsh receptor and hypothyroidism, congenital, nongoitrous, 4. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 1 is TSHR (Thyroid Stimulating Hormone Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Methimazole and Antithyroid Agents have been mentioned in the context of this disorder. Affiliated tissues include thyroid and pituitary, and related phenotypes are impaired sensitivity to thyroid stimulating hormone and congenital hypothyroidism
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
--
19
126
48

Medical Symptom

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

Gene & Mutation

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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

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PMID
Journal
Year
IF
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