GLUCOCORTICOID DEFICIENCY 5 (GCCD5)

Question 1

What is  GLUCOCORTICOID DEFICIENCY 5 (GCCD5)?

Accepted Answer

very rare

autosomal recessive

mutation in the TXNRD2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617825

Question 3

Which enzymes are involved?

Accepted Answer

Thioredoxin reductase 2, mitochondrial

Disease	GLUCOCORTICOID DEFICIENCY 5 (GCCD5)
Synonym	MITOCHONDRIAL THIOREDOXIN REDUCTASE 2 DEFICIENCY, TXNRD2
OMIM	617825 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Thioredoxin reductase 2, mitochondrial
Gene locus	22q11.21
ICD
Summary	very rare autosomal recessive mutation in the TXNRD2 gene
Laboratory findings	Adrenocorticotropic hormone (ACTH) inc (plasma) Cortisol dec (serum)
Symptoms	hyperpigmentation onset, adolescent onset, childhood onset, infancy