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glucocorticoid deficiency 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene.
Uniprot Description A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.
Mondo Term and Equivalent IDs
MONDO:0011826:  glucocorticoid deficiency 2
NCIT:C123728: 
UMLS:C1846284: