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familial glucocorticoid deficiency

Etiology: - congenital insensitivity or resistance to ACTH (type 1) Pathology: - progressive primary adrenal insufficiency, without mineralocorticoid deficiency (type 1) Genetics: - autosomal recessive - associated with defects in MRAP gene (type 1) - associated with defects in MC2R (type 1)

Related

adrenal insufficiency glucocorticoid

General

glucocorticoid deficiency genetic disease of the endocrine system

Database Correlations

OMIM 202200

References

  1. UniProt :accession Q8TCY5
  2. UniProt :accession Q01718