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Condition report · Endocrine

Familial Glucocorticoid Deficiency

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.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

familial glucocorticoid deficiency

Autosomal recessive

Genes analysed

Also known as

GCCD; glucocorticoid deficiency

Includes 6 related subtypes ↓
  • adrenocortical unresponsiveness to ACTH with postreceptor defect
  • glucocorticoid deficiency 1
  • glucocorticoid deficiency 2
  • glucocorticoid deficiency 3
  • glucocorticoid deficiency 4
  • glucocorticoid deficiency 5
MONDO:0008733Orphanet 361MedGen 885955

Triple-A syndrome

Autosomal recessive

Adrenal insufficiency from ACTH resistance together with absent tears and swallowing difficulty (achalasia), caused by AAAS variants.

Genes analysed

Also known as

2A syndrome; 3A syndrome; 4A syndrome; AAA; AAA syndrome; achalasia addisonianism alacrimia syndrome; achalasia alacrima syndrome; achalasia-addisonianism-alacrima syndrome; Addisonian achalasia syndrome; adrenal insufficiency-achalasia-alacrima syndrome; Allgrove syndrome; Double A syndrome; quaternary A syndrome

MONDO:0009279OMIM 231550Orphanet 869MedGen 82889

X-linked adrenal hypoplasia congenita

X-linked recessive

Underdeveloped adrenal glands causing adrenal insufficiency in infancy or childhood, and later hypogonadotropic hypogonadism, caused by NR0B1 variants.

Genes analysed

Also known as

adrenal hypoplasia congenita; adrenal hypoplasia, congenital; adrenal hypoplasia, congenital, X-linked recessive; AHC; X-linked AHC; X-linked congenital adrenal hypoplasia

Includes 1 related subtype ↓
  • adrenal hypoplasia, cytomegalic type
MONDO:0010264OMIM 300200Orphanet 95702MedGen 87442

Other endocrine conditions

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