GLUCOCORTICOID DEFICIENCY 2

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL GLUCOCORTICOID DEFICIENCY 2
FGD2
GCCD2
Number of Symptoms 10
OrphanetNr:
OMIM Id: 607398
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:0003154) Increased circulating ACTH level 8 / 7739
2
 (HPO:0008163) Decreased circulating cortisol level 5 / 7739
3
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
4
 (HPO:0001943) Hypoglycemia 131 / 7739
5
 (HPO:0001988) Recurrent hypoglycemia 6 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Elevated plasma ACTH 3 / 7739
8
 (OMIM) Normal plasma aldosterone 3 / 7739
9
 (OMIM) Normal plasma renin 3 / 7739
10
 (OMIM) Hyperpigmentation 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of several families segregating glucocorticoid deficiency, Metherell et al. (2005) identified homozygous mutations in the MRAP gene (609196.0001-609196.0007), encoding a 19-kD single transmembrane domain protein that interacts with MC2R and may have a role in ...