GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (GCCD4)

Question 1

What is  GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (GCCD4)?

Accepted Answer

very rare

autosomal recessive

mutation in the NNT gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614736

Question 3

Which enzymes are involved?

Accepted Answer

NAD(P) transhydrogenase, mitochondrial

Disease	GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (GCCD4)
OMIM	614736 OMIM = Online Mendelian Inheritance of Men
Orphanet	361
Protein (UniProt)	NAD(P) transhydrogenase, mitochondrial
Gene locus	5p12
ICD
Summary	very rare autosomal recessive mutation in the NNT gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) inc (plasma) Aldosterone dec (plasma) Cortisol dec (plasma) D-Glucose dec (serum) Potassium inc (serum) Renin activity (PRA) or renin inc (plasma) Sodium inc (urine) Sodium dec (serum)
Symptoms	coma cryptorchism failure to thrive hyperkalemia hyperpigmentation hypoglycemia hyponatremia hypothyroidism infections (severe or recurrent) onset, adolescent onset, childhood onset, infancy puberty, precocious seizures