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Summary
GLUCOCORTICOID RESISTANCE
GLUCOCORTICOID RECEPTOR DEFICIENCY
138040
OMIM = Online Medalian Inheritance of Men
786
5q31.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
autosomal dominant
autosomal recessive
hypercortisolism without Cushing syndrome
symptoms
acne
behavior, anxiety
fatigue, severe or unusual
hirsutism
hypertension
hypoglycemia
menstrual irregularities
metabolic alkalosis
no clinical signs or symptoms
laboratory finding
Cortisol increasedplasma, urine
D-Glucose decreasedblood
Literature
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Komrover GMWestall RHydroxykynureninuriaAm J Dis Child113077-801969
Nordmann YPorphyriasin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00333-3401996
von Dobeln Uet al.Retrospective diagnosis of 3-hydroxydicarboxylic aciduria by analysis of filter paper blood samplesJ Inherit Metab Dis130165-1681990
New Author000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Engelke UFHWevers RAHandbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopySPS000
Hagenfeldt Let al.3-Hydroxydicarboxylic aciduria - a fatty acid oxidation defect with severe prognosis J Pediatr1160387-3921990