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GENATLAS PHENOTYPE

last update : 02-06-2010

Symbol	GSH
Location	8q24.3
Name	glucocorticoid remediable aldosteronism
Other name(s)	hyperaldosteronism, familial, type I ACTH-dependent hyperaldosteronism syndrome
Corresponding gene	CYP11B1 , CYP11B2
Other symbol(s)	FH-I, GRA
Main clinical features	. hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production low plasma renin activity, and increased aldosterone secretion, responsive to dexamethasone treatment; growth and sexual development were normal
Genetic determination	autosomal dominant
Related entries	FH-II
Function/system disorder	cardiovascular
	endocrinology
Type	disease

Gene product

Name	cytochrome p450, subfamily XIB (CYP11B2) or chimeric (CYP11B2-B1) gene

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other			caused by a hybrid gene mutation formed by a cross-over of genetic material between the ACTH-responsive regulatory portion of the 11b-hydroxylase (CYP11B1) gene and the coding region of the aldosterone synthase (CYP11B2) gene.

Remark(s)