ORPHA:403
Familial hyperaldosteronism type I
Synonyms: Dexamethasone-sensitive hypertension · FH-I · FH1 · Familial hyperaldosteronism type 1 · GRA · Glucocorticoid-remediable aldosteronism · Glucocorticoid-sensitive hypertension
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperaldosteronism type I | Dexamethasone-sensitive hypertension · FH-I · FH1 · Familial hyperaldosteronism type 1 · GRA · Glucocorticoid-remediable aldosteronism · Glucocorticoid-sensitive hypertension |
| fr | Hyperaldostéronisme familial type I | FH-I · FH1 · Hyperaldostéronisme familial type 1 · Hypertension sensible aux glucocorticoïdes · Hypertension sensible à la dexaméthasone |
| de | Hyperaldosteronismus, familiärer, Typ I | FH-I · FH1 · GRA · Glucocorticoid-behandelbarer Aldosteronismus · Hypertension mit Dexamethason-Sensibilität · Hypertension mit Glukokortikoid-Sensibilität |
| es | Hiperaldosteronismo familiar tipo I | Aldosteronismo tratable con glucocorticoides · FH-I · FH1 · GRA · Hiperaldosteronismo familiar tipo 1 · Hipertensión sensible a glucocorticoides · Hipertensión sensible a la dexametasona |
| it | Iperaldosteronismo familiare, tipo I | Aldosteronismo glucocorticoide-rimediabile · FH-I · FH1 · GRA · Iperaldosteronismo familiare, tipo 1 · Ipertensione sensibile ai glucocorticoidi · Ipertensione sensibile al desametazone |
| nl | Familiaal hyperaldosteronisme type I | Dexamethasongevoelige hypertensie · FH-I · FH1 · Familiaal hyperaldosteronisme type 1 · GRA · Glucocorticoïdgevoelige hypertensie · Glucocorticoïdherstelbaar aldosteronisme |
| pt | Hiperaldosteronismo familiar tipo 1 | Hipertensão sensível aos glucocorticóides · Hipertensão sensível à dexametasona |
| pl | Rodzinny hiperaldosteronizm typu 1 | FH1 · FH-I · GRA · Nadciśnienie wrażliwe na deksametazon · Nadciśnienie wrażliwe na glikokorykosteroidy |
| cs | Familiární hyperaldosteronismus, typu I | Dexametazon-supresibilní hypertenze · FH-I · FH1 · Familiární hyperaldosteronismus, typ 1 · GRA · Glukokortikoidy supresibilní (hyper)aldosteronizmus · Hypertenze citlivá na glukokortikoidy |
| uk | Сімейний гіперальдостеронізм, тип I | Гіпертензія, чутлива до дексаметазону · Сімейний гіперальдостеронізм типу 1 · FH1 · FH-I · Глюкокортикоїд-регульований альдостеронізм · Гіпертензія, чутлива до глюкокортикоїдів · GRA |
| zh | 家族性醛固酮增多症I型 | 糖皮质激素可治性高血压 |
| tr | Ailesel hiperaldosteronizm tip I | FH1 · GRA · FH-I · Ailesel hiperaldosteronizm ipucu 1 · Deksametazona duyarlı hipertansiyon · Glukokortikoid duyarlı hipertansiyon · Glukokortikoid ile düzelebilen aldosteronizm |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 103900 | E | validated | |
| ICD-10 | E26.0 | NTBT | attributed | validated |
| ICD-11 | 5A72.0 | NTBT | index | validated |
| MONDO | 0007080 | E | validated | |
| MeSH | C563177 | E | validated | |
| UMLS | C3838731 | E | validated | |
| GARD | 2790 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:235936Familial hyperaldosteronism
rare genetic diseases; rare renal diseases; rare endocrine diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYP11B1 | Part of a fusion gene in | Assessed | HGNC:2591 | ENSG00000160882 | 610613 | 8q24.3 | cytochrome P450 family 11 subfamily B member 1 | 24817817[PMID]_20634641[PMID] |
| CYP11B2 | Part of a fusion gene in | Assessed | HGNC:2592 | ENSG00000179142 | 124080 | 8q24.3 | cytochrome P450 family 11 subfamily B member 2 | 24817817[PMID]_20634641[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 23610123[PMID]_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.
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HPO phenotypes
20 annotations · validated 2026-01-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003351 | Decreased circulating renin concentration | |
| HP:0000822 | Hypertension | |
| Frequent (79-30%) | ||
| HP:0008221 | Adrenal hyperplasia | |
| HP:6000318 | Elevated aldosterone:renin ratio | |
| HP:0000859 | Increased circulating aldosterone concentration | |
| Occasional (29-5%) | ||
| HP:0004944 | Dilatation of the cerebral artery | |
| HP:0000421 | Epistaxis | |
| HP:0002315 | Headache | |
| HP:0430034 | Hypertension resistant to conventional therapy | |
| HP:0002900 | Hypokalemia | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001324 | Muscle weakness | |
| HP:0002018 | Nausea | |
| HP:0001959 | Polydipsia | |
| HP:0100602 | Preeclampsia | |
| HP:0000488 | Retinopathy | |
| HP:0011746 | Secretory adrenocortical adenoma | |
| HP:0001297 | Stroke | |
| HP:0000360 | Tinnitus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29348113[PMID]_38495792[PMID]_26934393[PMID]_27036860[PMID]_4288576[PMID]_7593610[PMID]_14688810[PMID]_14667264[PMID]_11085685[PMID]_10679515[PMID]_9360508[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/403
- This record as JSON: /data/d/403.json