Hypothyroidism, Congenital, Nongoitrous, 4 (CHNG4)

Alias:
Tsh Deficiency
Chng4
Congenital Nongoitrous Hypothyroidism 4
Thyroid-Stimulating Hormone Deficiency
Thyrotropin Deficiency, Isolated
Pituitary Cretinism
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothyroidism, Congenital, Nongoitrous, Type 4
Tsh - [thyroid Stimulating Hormone] Deficiency
Hypothyroidism, Congenital, Non-Goitrous, 4
Hypothyroidism, Congenital, Nongoitrous 4
Isolated Thyrotropin Deficiency
Secondary Hypothyroidism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypothyroidism, Congenital, Nongoitrous, 4, also known as tsh deficiency, is related to hypothyroidism, congenital, nongoitrous, 1 and graves disease 1. An important gene associated with Hypothyroidism, Congenital, Nongoitrous, 4 is TSHB (Thyroid Stimulating Hormone Subunit Beta), and among its related pathways/superpathways are Peptide hormone metabolism and Growth hormone receptor signaling. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include thyroid and pituitary, and related phenotypes are hypothyroidism and decreased thyroid-stimulating hormone level
Related ID:
MESH:D003409
ICD11:1424380846

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
11
91
23

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

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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
No Data Found!
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