Familial hyperaldosteronism type 3

General Information (adopted from Orphanet):

Synonyms, Signs: FH III
Number of Symptoms 10
OrphanetNr: 251274
OMIM Id: 613677
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: Infancy
Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial hyperaldosteronism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000103) Polyuria rare [HPO:skoehler] 60 / 7739
2
 (HPO:0002150) Hypercalciuria rare [HPO:skoehler] 45 / 7739
3
 (HPO:0001959) Polydipsia rare [HPO:skoehler] 43 / 7739
4
 (HPO:0008221) Adrenal hyperplasia 24 / 7739
5
 (HPO:0000859) Hyperaldosteronism 17 / 7739
6
 (HPO:0003351) Decreased circulating renin level 8 / 7739
7
 (HPO:0000822) Hypertension 224 / 7739
8
 (HPO:0002900) Hypokalemia 45 / 7739
9
 (HPO:0001942) Metabolic acidosis rare [HPO:skoehler] 81 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels ...
Clinical Description OMIM Geller et al. (2008) reported a novel familial form of aldosteronism in a father and 2 daughters. All were diagnosed with severe secondary hypertension (HTN) refractory to medical treatment by age 7 years. Geller et al. (2008) performed ...
Molecular genetics OMIM In the family with hyperaldosteronism reported by Geller et al. (2008), Choi et al. (2011) identified a missense mutation in the potassium channel gene KCNJ5 at codon 158 (600734.0002). This mutation produced increased sodium conductance and caused severe ...