Renal pseudohypoaldosteronism type 1
Synonyms: Autosomal dominant PHA1 · Autosomal dominant pseudohypoaldosteronism type 1 · Renal PHA1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal pseudohypoaldosteronism type 1 | Autosomal dominant PHA1 · Autosomal dominant pseudohypoaldosteronism type 1 · Renal PHA1 |
| fr | Pseudohypoaldostéronisme type 1 rénal | PHA1 autosomique dominant · PHA1 rénal · Pseudohypoaldostéronisme type 1 autosomique dominant |
| de | Pseudohypoaldosteronismus, renaler, Typ 1 | Pseudohypoaldosteronismus, autosomal-dominanter, Typ 1 · Renaler PHA1 |
| es | Pseudohipoaldosteronismo renal tipo 1 | PHA1 autosómico dominante · PHA1 renal · Pseudohipoaldosteronismo autosómico dominante tipo 1 |
| it | Pseudoipoaldosteronismo renale tipo 1 | PHA1 autosomico dominante · PHA1 renale · Pseudoipoaldosteronismo autosomico dominante tipo 1 |
| nl | Renaal pseudohypoaldosteronisme type 1 | Autosomaal dominant PHA1 · Autosomaal dominant pseudohypoaldosteronisme type 1 · Renaal PHA1 |
| pt | Pseudo-hipoaldosteronismo renal tipo 1 | PHA1 autossómica dominante · PHA1 renal · Pseudo-hipoaldosteronismo autossómico dominante tipo 1 |
| pl | Pseudohipoaldosteronizm typu 1 pochodzenia nerkowego | Autosomalny dominujący pseudohipoaldosteronizm typu 1 |
| cs | Renální pseudohypoaldosteronismus, typ 1 | Autozomálně dominantní pseudohypoaldosteronismus, typ 1 |
| uk | Нирковий псевдогіпоальдостеронізм, тип 1 | Аутосомно-домінантний PHA1 · Аутосомно-домінантний псевдогіпоальдостеронізм типу 1 · Нирковий PHA1 |
| zh | 肾型假性醛固酮减少症1型 | 常染色体显性遗传假性醛固酮减少症1型 |
| tr | Böbrek psödohipoaldosteronizm tip 1 | Otozomal baskın psödohipoaldosteronizm tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177735 | E | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.41 | NTBT | index | validated |
| MONDO | 0008329 | E | validated | |
| UMLS | C1449842 | E | validated | |
| GARD | 9145 | 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:756Pseudohypoaldosteronism type 1
rare genetic diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR3C2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7979 | ENSG00000151623 | 600983 | 4q31.23 | nuclear receptor subfamily 3 group C member 2 | 16757525[PMID]_19571553[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.51 / 100 000 | United Kingdom | Value and class | Validated | 24616761[PMID] |
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/171871
- This record as JSON: /data/d/171871.json