| %605635 | |||||||||
| HYPERALDOSTERONISM, FAMILIAL, TYPE II | |||||||||
| Alternative titles; symbols | |||||||||
| FH II | |||||||||
| Cytogenetic location: 7p22 Genomic coordinates (GRCh37): 7:0 - 7,300,000 (from NCBI) | |||||||||
| Gene Phenotype Relationships | |||||||||
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| TEXT | |||||||||
| For a general phenotypic description and a discussion of genetic heterogeneity of familial hyperaldosteronism, see FH I (103900). | |||||||||
| Clinical Features | |||||||||
| Familial hyperaldosteronism type II (FH II) is characterized by hypersecretion of aldosterone due to adrenocortical hyperplasia, an aldosterone-producing adenoma, or both. In contrast to familial hyperaldosteronism type I (103900), FH II is not suppressible by dexamethasone. Stowasser et al. (1992) reported 5 families with this phenotype with a segregation pattern supporting dominant inheritance. | |||||||||
| Mapping | |||||||||
| Torpy et al. (1998) reported linkage analysis on one of 17 families known to them with familial hyperaldosteronism type II. All affected individuals had negative testing for the CYP11B1/CYP11B2 hybrid gene (202010.0002), known to be responsible for familial hyperaldosteronism type I. Linkage analysis also excluded CYP11B2 (124080) as a candidate for familial hyperaldosteronism type II. Lafferty et al. (2000) reported further linkage analysis on the extended kindred originally reported by Torpy et al. (1998). They found linkage between familial hyperaldosteronism type 2 and markers within cytogenetic band 7p22, with a 2-point lod score of 3.26 for markers at loci D7S511 and D7S517 (theta = 0.0) and a multipoint lod score of 3.5 between markers at loci D7S2521 and GATA24F03. | |||||||||
| REFERENCES | |||||||||
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