GLUCOCORTICOID DEFICIENCY 2 (GCCD2)

Question 1

What is  GLUCOCORTICOID DEFICIENCY 2 (GCCD2)?

Accepted Answer

very rare

autosomal recessive

mutation in the MRAP gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 607398

Question 3

Which enzymes are involved?

Accepted Answer

Melanocortin-2 receptor accessory protein

Disease	GLUCOCORTICOID DEFICIENCY 2 (GCCD2)
Synonym	FAMILIAL GLUCOCORTICOID DEFICIENCY 2; FGD2 ; MRAP
OMIM	607398 OMIM = Online Mendelian Inheritance of Men
Orphanet	361
Protein (UniProt)	Melanocortin-2 receptor accessory protein
Gene locus	21q22.1
ICD	E27.1
Summary	very rare autosomal recessive mutation in the MRAP gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) inc (plasma) Cortisol dec (plasma) D-Glucose dec (serum)
Symptoms	hyperpigmentation hypoglycemia onset, adolescent onset, childhood onset, infancy