GLUCOCORTICOID DEFICIENCY 1 (GCCD1)

Question 1

What is  GLUCOCORTICOID DEFICIENCY 1 (GCCD1)?

Accepted Answer

very rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 202200

Question 3

Which enzymes are involved?

Accepted Answer

Adrenocorticotropic hormone receptor

Disease	GLUCOCORTICOID DEFICIENCY 1 (GCCD1)
Synonym	FAMILIAL GLUCOCORTICOID DEFICIENCY 1; FGD1; MCR2
OMIM	202200 OMIM = Online Mendelian Inheritance of Men
Orphanet	361
Protein (UniProt)	Adrenocorticotropic hormone receptor
Gene locus	18p11.21
ICD	E27.1
Summary	very rare autosomal recessive
Laboratory findings	Adrenocorticotropic hormone (ACTH) inc (plasma) Cortisol dec (plasma) D-Glucose dec (serum)
Symptoms	coma dysmorphism failure to thrive hyperpigmentation hypoglycemia infections (severe or recurrent) onset, adolescent onset, childhood onset, infancy seizures tall stature