GLUCOCORTICOID DEFICIENCY 1

General Information (adopted from Orphanet):

Synonyms, Signs: ADRENAL UNRESPONSIVENESS TO ACTH
ACTH RESISTANCE
FAMILIAL GLUCOCORTICOID DEFICIENCY 1
FGD1
GCCD1
Number of Symptoms 13
OrphanetNr:
OMIM Id: 202200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(HPO:0001259) Coma 65 / 7739
3
(HPO:0008163) Decreased circulating cortisol level 5 / 7739
4
(HPO:0005616) Accelerated skeletal maturation 46 / 7739
5
(HPO:0000098) Tall stature 74 / 7739
6
(HPO:0001508) Failure to thrive 454 / 7739
7
(HPO:0001988) Recurrent hypoglycemia 6 / 7739
8
(HPO:0001943) Hypoglycemia 131 / 7739
9
(HPO:0002719) Recurrent infections 107 / 7739
10
(OMIM) Normal plasma aldosterone 3 / 7739
11
(OMIM) Hyperpigmentation 24 / 7739
12
(OMIM) Normal plasma renin 3 / 7739
13
(OMIM) Elevated plasma ACTH 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life ...
Clinical Description OMIM Migeon et al. (1968) described an entity of adrenal unresponsiveness to ACTH characterized by hypoglycemia, hyperpigmentation, feeding problems in infancy, low urinary 17-OHCS, normal tolerance to salt deprivation, and no elevation of 17-OHCS excretion or plasma cortisol concentration ...
Molecular genetics OMIM Isolated glucocorticoid deficiency was shown by Clark et al. (1993) and Tsigos et al. (1993) to be produced by mutations in the MC2R gene. Nephrogenic diabetes insipidus (304800) had previously been shown to be due to a defect ...
Population genetics OMIM O'Riordan et al. (2008) studied the clinical features and assessed the prevalence of familial glucocorticoid deficiency (FGD) among Irish Travelers in the Republic of Ireland and described their phenotype. They identified 21 cases of FGD in the Irish ...