Familial hyperaldosteronism
Synonyms: FH
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A group of rare primary aldosteronism characterized by hyperaldosteronism, hypertension, hypokalemia and low plasma renin activity. Clinical symptoms and their severity vary according to the type of hyperaldosteronism and may include abnormal production of 18-oxocortisol and 18-hydroxycortisol, headaches, nausea, fatigue, muscle weakness, cardiovascular complications due to aldosterone excess, polydipsia, polyuria, bilateral adrenal hyperplasia, developmental delay, learning disabilities and behavioral abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperaldosteronism | FH |
| fr | Hyperaldostéronisme familial | = en |
| de | Hyperaldosteronismus, familiärer | = en |
| es | Hiperaldosteronismo familiar | = en |
| it | Iperaldosteronismo familiare | = en |
| nl | Familiaal hyperaldosteronisme | = en |
| pt | Hiperaldosteronismo familiar | |
| pl | Rodzinny hiperaldosteronizm | = en |
| cs | Familiární hyperaldosteronismus | = en |
| uk | Сімейний гіперальдостеронізм | = en |
| zh | 家族性醛固酮增多症 | = en |
| tr | Ailesel hiperaldosteronizm | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016525 | E | validated | |
| MONDO | 16525 | E | validated | |
| MeSH | C580087 | E | validated | |
| UMLS | C3713420 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:371861Genetic hyperaldosteronism
rare genetic diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases - ORPHA:231641Rare non surgically correctable form of primary aldosteronism
rare endocrine diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/235936
- This record as JSON: /data/d/235936.json