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Conn syndrome

Conn syndrome, hyperaldosteronism caused by adenomas, is often due to somatic mutation of adrenal cells.

Classification

Two types can be distinguished: (1) subcapsular aldosterone-producing cell clusters (APCC) which present macroscopically as normal adrenal glands and (2) aldosterone-producing adenomas (APA). Different genes are mutated in these two forms.

Systematic

Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
Hyperaldosteronism type 1
Hyperaldosteronism type 2
Hyperaldosteronism type 3
Hyperaldosteronism type 4

References:

1.

Scholl UI et al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

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2.

Kokunai Y et al. (2014) A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

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3.

Murthy M et al. (2014) Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

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4.

Charmandari E et al. (2012) A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

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5.

Scholl UI et al. (2012) Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

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6.

Azizan EA et al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

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7.

Baig SM et al. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

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8.

Liu X et al. (2010) Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.

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9.

Pennartz CM et al. (2002) Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock.

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10.

Platzer J et al. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

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11.

Jinnah HA et al. (1999) Calcium channel activation and self-biting in mice.

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12.

Mori Y et al. (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel.

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13.

Chin HM et al. (1991) A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3.

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14.

Tsien RW et al. (1991) Molecular diversity of voltage-dependent Ca2+ channels.

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15.

Seino S et al. (1992) Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3.

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16.

Seino S et al. (1992) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.

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17.

Williams ME et al. (1992) Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.

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18.

Davare MA et al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.

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19.

OMIM.ORG article

Omim 600734 external link
20.

Wikipedia article

Wikipedia EN (Primary_aldosteronism) external link
Update: Aug. 14, 2020
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