Genetic adrenal disease

Genetic adrenal disease include disturbances of the cortex (aldosterone, glucocorticoids, sex hormones) and medulla catecholamines.

Systematic

Hereditary endocrinological diseases
	Autoimmune polyendokrinopathy
	Disorder of the thyroid hormon system
	Disorders of sex development
	Disorders of the growth control system
	Disorders of the parathyroid hormone system
	Genetic adrenal disease
		Adrenal adenoma
			MEN1
		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
		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
			GDNF
			KIF1B
			MAX
			OCLN
			RET
			SDHB
			SDHD
			TMEM127
			VHL
	Genetic disorders of pituitary gland
	Hereditary diabetes insipidus
	Hereditary dsorders of the pituitary gland
	Kidney disease appearing as endocrinological disorders
	Multiple endocrine neoplasia 1

References:

1.	None (1952) Addison's disease: familial incidence and occurence in association with pernicious anemia.

2.	Tsirlin A et al. (2014) Pheochromocytoma: a review.

Update: June 23, 2025

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