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Summary
GLUCOCORTICOID DEFICIENCY 5 GCCD5
MITOCHONDRIAL THIOREDOXIN REDUCTASE 2 DEFICIENCY, TXNRD2
617825
OMIM = Online Medalian Inheritance of Men
22q11.21
very rare
autosomal recessive
mutation in the TXNRD2 gene
symptoms
hyperpigmentation
laboratory finding
Cortisol nmol/lserum
Adrenocorticotropic hormone (ACTH) pmol/lplasma
Literature
Heilberg IP1,Totoli C, Calado JTAdult presentation of Bartter syndrome type IV with erythrocytosisEinstein (Sao Paulo)134604-6062015