PedAM
Pediatric Disease Annotations & Medicines
| Disease | familial glucocorticoid deficiency |
| Phenotype | C0001623|adrenal failure |
| Sentences | 1 |
| PubMedID- 23825130 | More recently mutations in the antioxidant gene, nnt, encoding nicotinamide nucleotide transhydrogenase (responsible for producing the high concentrations of nicotinamide adenine dinucleotide phosphate oxidase (nadph) necessary for the regeneration of reduced glutathione from oxidized glutathione), have been reported to cause familial glucocorticoid deficiency with acth-resistant adrenal failure (40). |
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