Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorder of the aldosterone system

Disease of the mineralocorticoid system include disturbances of aldosterone production, metabolism, and action. Excessive aldosterone leads to clinical symptoms hypertension, water retention, and hypokalemia. Low aldosterone levels have the opposite effect: low blood pressure, water depletions, and hyperkalemia.

Diagnosis

The clinical diagnosis of hypo- or hyperaldosteronism has to be ompleted with lab tests of plasma aldosterone and renin levels.

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
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
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
Disorder of the thyroid hormon system
Disorders of sex development
Disorders of the growth control system
Disorders of the parathyroid hormone system
Disorders of the steroid hormone system
Hereditary diabetes insipidus
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Pheochromocytoma

References:

1.

Skinningsrud B et al. (2008) Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease.

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2.

Gambelunghe G et al. (1999) Microsatellite polymorphism of the MHC class I chain-related (MIC-A and MIC-B) genes marks the risk for autoimmune Addison's disease.

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3.

Lafferty AR et al. (2000) A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22).

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4.

Kayes-Wandover KM et al. (2001) Congenital hyperreninemic hypoaldosteronism unlinked to the aldosterone synthase (CYP11B2) gene.

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5.

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

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6.

None (1956) Familial occurrence of Addison's disease.

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7.

MITCHELL RG et al. (1959) Congenital adrenal hypoplasia in siblings.

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8.

MEAKIN JW et al. (1959) Addison's disease in two brothers.

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9.

Boyd JF et al. (1960) Adrenal Cortical Hypoplasia in Siblings.

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10.

O'Donohoe NV et al. (1968) Familial congenital adrenal hypoplasia.

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11.

Torpy DJ et al. (1998) Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene.

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Update: May 9, 2019