ORPHA:642671
Familial hyperaldosteronism type IV
Synonyms: FH4
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Childhood
- Status
- active
A rare familial hyperaldosteronism characterized by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalemia. Developmental delay, learning disabilities, behavioral abnormalities, and attention deficit disorder are observed in some patients.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hyperaldosteronism type IV | FH4 |
| fr | Hyperaldostéronisme familial type IV | |
| de | Hyperaldosteronismus, familiärer, Typ IV | = en |
| es | Hiperaldosteronismo familiar tipo IV | = en |
| it | Iperaldosteronismo familiare tipo IV | = en |
| nl | Familiaal hyperaldosteronisme type IV | = en |
| pt | Hiperaldosteronismo familiar tipo IV | = en |
| pl | Rodzinny hiperaldosteronizm typu IV | = en |
| cs | Familiární hyperaldosteronismus, typ IV | = en |
| uk | Сімейний гіперальдостеронізм, тип IV | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617027 | E | validated | |
| ICD-10 | E26.0 | NTBT | attributed | validated |
| ICD-11 | 5A72.0 | NTBT | attributed | validated |
| MONDO | 0014875 | E | validated | |
| UMLS | C4310756 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1H | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1395 | ENSG00000196557 | 607904 | 16p13.3 | calcium voltage-gated channel subunit alpha1 H | 27729216[PMID]_25907736[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 38860417[PMID]_35757409[PMID]_39803142[PMID]_38495792[PMID]_25907736[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38860417[PMID]_35757409[PMID]_39803142[PMID]_38495792[PMID]_25907736[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/642671
- This record as JSON: /data/d/642671.json