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Familial glucocorticoid deficiency

Disease definition

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.

ORPHA:361

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E27.1
  • OMIM: 202200  202355  607398  609197  614736
  • UMLS: -
  • MeSH: -
  • GARD: 2498
  • MedDRA: -

Additional information

Specialised Social Services

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