Late-onset familial hypoaldosteronism
Synonyms: Late-onset familial hyperreninemic hypoaldosteronism · Mild aldosterone synthase deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Age of onset
- Adult, Elderly
- Status
- active
A rare form of familial hypoaldosteronism characterized by adult onset of subnormal plasma aldosterone with elevated plasma renin activity, hyperkalemia, metabolic acidosis, and hypotension. Signs and symptoms are typically mild, and affected individuals may be clinically asymptomatic and diagnosed only after biochemical screening.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset familial hypoaldosteronism | Late-onset familial hyperreninemic hypoaldosteronism · Mild aldosterone synthase deficiency |
| fr | Hypoaldostéronisme familial à début tardif | Déficit en aldostérone synthase modéré · Hypoaldostéronisme familial hyperréninémique à début tardif |
| de | Hypoaldosteronismus, familiärer, spät-einsetzende Form | Aldosteron-Synthase-Mangel, milde Form · Hypoaldosteronismus, familiärer hyperreninämischer, spät beginnend |
| es | Hipoaldosteronismo familiar de inicio tardío | Deficiencia de aldosterona sintasa leve · Hipoaldosteronismo hiperreninémico familiar de inicio tardío |
| it | Ipoaldesteronismo familiare a esordio tardivo | |
| nl | Familiaal hypoaldosteronisme met late aanvang | Familiaal hyperreninemisch hypoaldosteronisme met late aanvang · Milde aldosteronsynthasedeficiëntie |
| pt | Hipoaldosteronismo familiar de início tardio | |
| pl | Hipoaldosteronizm o późnym początku | Łagodny niedobór syntazy aldosteronu |
| cs | Familiární hypoaldosteronismus s pozdním nástupem | Mírný deficit aldosteron syntázy · Familiární hyperreninemický hypoaldosteronismus s pozdním nástupem |
| uk | Пізній сімейний гіпоальдостеронізм | Пізній сімейний гіперренінемічний гіпоальдостеронізм · Легкий дефіцит альдостеронової синтази |
| zh | 晚发性家族性醛固酮减少症 | 晚发性家族性高肾素低醛固酮症 |
| tr | Geç başlangıçlı ailesel hipoaldosteronizm | Hafif aldosteron sentaz eksikliği · Geç başlangıçlı ailesel hiperreninemik hipoaldosteronizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E27.4 | NTBT | attributed | validated |
| ICD-11 | 5A73 | NTBT | attributed | validated |
| MONDO | 0035321 | E | validated | |
| UMLS | C5680172 | 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 (1):
- ORPHA:427Familial hypoaldosteronism
rare genetic diseases; rare endocrine diseases
No children.
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 | — | Worldwide | Class only | 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
14 annotations · validated 2019-07-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0012112 | Abnormality of circulating corticosterone level | |
| HP:0004319 | Decreased circulating aldosterone level | |
| HP:0025436 | Elevated serum 11-deoxycortisol | |
| HP:0001945 | Fever | |
| HP:0002153 | Hyperkalemia | |
| HP:0002902 | Hyponatremia | |
| HP:0002615 | Hypotension | |
| HP:0000848 | Increased circulating renin level | |
| HP:0001278 | Orthostatic hypotension | |
| HP:0012606 | Renal sodium wasting | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:0001508 | Failure to thrive | |
| HP:0008897 | Postnatal growth retardation | |
| Excluded (0%) | ||
| HP:0000811 | Abnormal external genitalia | |
Annotation source: 6991942[PMID]_1594605[PMID]_1601005[PMID]_9360501[PMID]_11701710[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/556037
- This record as JSON: /data/d/556037.json