Familial hyperaldosteronism type 1

General Information (adopted from Orphanet):

Synonyms, Signs: ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME
GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM
ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE
HYPERALDOSTERONISM, FAMILIAL, TYPE I
GRA
GSH
FH1
FH I
Glucocorticoid-remediable aldosteronism
Dexamethasone sensitive hypertension
Glucocorticoid sensitive hypertension
Number of Symptoms 11
OrphanetNr: 403
OMIM Id: 103900
ICD-10: E26.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial hyperaldosteronism
 -Rare endocrine disease
 -Rare genetic disease
Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000079) Abnormality of the urinary system 88 / 7739
2
(HPO:0008221) Adrenal hyperplasia 24 / 7739
3
(HPO:0003351) Decreased circulating renin level 8 / 7739
4
(HPO:0000859) Hyperaldosteronism 17 / 7739
5
(HPO:0000840) Adrenogenital syndrome 6 / 7739
6
(HPO:0000822) Hypertension 224 / 7739
7
(OMIM) Increased 18-hydroxycortisol 1 / 7739
8
(HPO:0003674) Onset 32 / 7739
9
(OMIM) Normal or decreased serum potassium 1 / 7739
10
(OMIM) Increased 18-oxocortisol 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et ...
Diagnosis OMIM MacConnachie et al. (1998) used a multiplex PCR protocol that allowed amplification of the control aldosterone synthase and chimeric gene to be carried out in the same tube. They described the regions of crossover in each of 10 ...
Clinical Description OMIM Sutherland et al. (1966) and Salti et al. (1969) described a father and son with hypertension, low plasma renin activity, and increased aldosterone secretion. The symptoms were responsive to dexamethasone treatment. Growth and sexual development were normal. The ...
Molecular genetics OMIM In affected members of a family with GRA, Lifton et al. (1992) identified a chimeric gene in which the 5-prime regulatory sequences of the CYP11B1 gene were fused to the coding region of the CYP11B2 gene (610613.0002), resulting ...