Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Synonyms: Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare genetic cause of hypertension characterized by severe early-onset therapy-resistant hypertension due to a gain-of-function mutation in the mineralocorticoid receptor. The condition is associated with suppressed plasma renin activity and low serum aldosterone levels and is markedly exacerbated during pregnancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypertension due to gain-of-function mutations in the mineralocorticoid receptor | Early-onset hypertension with exacerbation in pregnancy · Pseudohyperaldosteronism type 2 |
| fr | Hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes | Hypertension à début précoce accentuée par la grossesse · Pseudohyperaldostéronisme type 2 |
| de | Hypertension durch gain-of-function-Mutationen im Mineralocorticoid-Rezeptor | Hypertension, früh beginnende, mit Exazerbation in der Schwangerschaft · Pseudohyperaldosteronismus Typ 2 |
| es | Hipertension por mutaciones con ganancia de función del receptor mineralocorticoide | Hipertensión de inicio precoz con exacerbación durante el embarazo · Pseudohiperaldosteronismo tipo 2 |
| it | Ipertensione da mutazione con guadagno di funzione nel recettore dei mineralcorticoidi | Ipertensione a esordio precoce aggravata dalla gravidanza · Ipertensione da mutazioni con guadagno di funzione nel recettore dei mineralcorticoidi |
| nl | Hypertensie door winstmutaties in mineralocorticoïdreceptor | Pseudohyperaldosteronisme type 2 · Vroeg optredende hypertensie met exacerbatie tijdens zwangerschap |
| pt | Hipertensão devido a mutações de ganho de função no recetor mineralocorticoide | |
| pl | Pseudohiperaldosteronizm typu 2 | Nadciśnienie o wczesnym początku z zaostrzeniem w czasie ciąży · Nadciśnienie z powodu mutacji nabycia funkcji w receptorze mineralokortykoidowym |
| cs | Pseudohyperaldosteronismus, typ 2 | Hypertenze s časným nástupem s exacerbací v těhotenství · Hypertenze způsobená aktivačními mutacemi receptoru mineralokortikoidů |
| uk | Гіпертензія внаслідок мутацій посилення функції мінералокортикоїдних рецепторів | Гіпертензія з раннім початком та загостренням під час вагітності · Псевдогіперальдостеронізм типу 2 |
| zh | 盐皮质激素受体功能性突变所致高血压 | 早发性高血压伴孕期恶化 |
| tr | Mineralokortikoid reseptöründeki işlev kazanım mutasyonlarına bağlı hipertansiyon | Psödohiperaldosteronizm tip 2 · Gebelikte alevlenme ile seyreden erken başlangıçlı hipertansiyon |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | I15.1 | NTBT | attributed | validated |
| ICD-11 | BA04.Y | NTBT | index | validated |
| MONDO | 0011517 | E | validated | |
| UMLS | C4707886 | 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 (3):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:163637Rare disorder related with pregnancy, childbirth and puerperium
rare gynecological and obstetric diseases - ORPHA:156629Rare genetic cause of hypertension
rare genetic diseases; rare renal diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88660
- This record as JSON: /data/d/88660.json