Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency

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OMIM 57 614736 MedGen 42 C3553587 CN130473 MeSH 44 D000309

SNOMED-CT via HPO 69 258211005 204878001 123527003 400179000 190268003 217710005 267384006 36440009 432788009 237630007 271327008 302866003 14140009 166689004 238142003 89627008 more UMLS 73 C3553587

UniProtKB/Swiss-Prot : ⁷⁵ Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency: 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.

MalaCards based summary : Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency, also known as gccd4, is related to charcot-marie-tooth disease, type 4h and charcot-marie-tooth disease. An important gene associated with Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency is NNT (Nicotinamide Nucleotide Transhydrogenase). Affiliated tissues include cortex and adrenal cortex, and related phenotypes are cryptorchidism and renal salt wasting

OMIM : ⁵⁷ Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (614736)

Clinical features from OMIM:

614736

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