Familial Glucocorticoid Deficiency

Alias:
Glucocorticoid Deficiency
Hereditary Unresponsiveness to Adrenocorticotropic Hormone
Glucocorticoid Deficiency, Familial
Isolated Glucocorticoid Deficiency
Adrenal Unresponsiveness to Acth
Glucocorticoid Deficiency 1
Acth Resistance
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Glucocorticoid Deficiency, also known as glucocorticoid deficiency, is related to glucocorticoid deficiency 1 and achalasia. An important gene associated with Familial Glucocorticoid Deficiency is MC2R (Melanocortin 2 Receptor), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and adrenal cortex, and related phenotypes are adrenal insufficiency and decreased circulating cortisol level
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
1-9/1000000
38
282
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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
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IF
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