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Disorders of the glucocorticoid hormone system

Genetic glucocorticoid disorders is a group of diseases that include disturbances of steroid hormone synthesis and action.

Systematic

Genetic adrenal disease
Adrenal adenoma
Disorder of the aldosterone system
Disorders of the glucocorticoid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
GNAS
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP17A1
Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
CLCN2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
CYP11B2
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Disordered steroidogenesis due to POR deficiency
POR
Glucocorticoid resistance
NR3C1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC
Pheochromocytoma

References:

1.

None (2006) Urinary steroid profiling.

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2.

Lin-Su K et al. (2008) Congenital adrenal hyperplasia in adolescents: diagnosis and management.

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3.

None (2010) Steroid assays in paediatric endocrinology.

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4.

None (2012) Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.

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5.

Nimkarn S et al. (2011) Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

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6.

Lekarev O et al. (2011) Adrenal disease in pregnancy.

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7.

New MI et al. (2012) An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia.

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Update: Aug. 14, 2020
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