Pseudohypoaldosteronism type 1
Synonyms: PHA type 1 · PHA1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, primary form of mineralocorticoid resistance characterized by mild to profound salt wasting either restricted to the kidney (renal pseudohypoaldosteronism type 1), or generalized affecting many organs (generalized pseudohypoaldosteronism type 1). Clinical presentation is in the neonatal period with failure to thrive, vomiting and dehydration with biochemical findings of hyperkalaemia, metabolic acidosis and, elevated plasma aldosterone and renin concentration.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoaldosteronism type 1 | PHA type 1 · PHA1 |
| fr | Pseudohypoaldostéronisme type 1 | = en |
| de | Pseudohypoaldosteronismus Typ 1 | PHA Typ 1 · PHA1 |
| es | Pseudohipoaldosteronismo tipo 1 | PHA tipo 1 · PHA1 |
| it | Pseudoipoaldosteronismo tipo 1 | PHA tipo 1 · PHA1 |
| nl | Pseudohypoaldosteronisme type 1 | = en |
| pt | Pseudo-hipoaldosteronismo tipo 1 | Adicionar PHA tipo 1 |
| pl | Pseudohipoaldosteronizm typu 1 | PHA type 1 |
| cs | Pseudohypoaldosteronismus, typ 1 | PHA typ 1 |
| uk | Псевдогіпоальдостеронізм, тип 1 | PHA тип 1 · PHA1 |
| zh | 假性醛固酮减少症I型 | PHA1型 |
| tr | Psödohipoaldosteronizm tip 1 | PHA türü 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 177735 | BTNT | validated | |
| OMIM | 264350 | BTNT | validated | |
| ICD-10 | N25.8 | NTBT | attributed | validated |
| ICD-11 | GB90.41 | E | specific | validated |
| MONDO | 0019161 | E | validated | |
| UMLS | C0268436 | 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 (2):
- ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:444916Pseudohypoaldosteronism
rare renal diseases
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| NR3C2 | ORPHA:171871Renal pseudohypoaldosteronism type 1 | 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] |
| SCNN1A | ORPHA:171876Generalized pseudohypoaldosteronism type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10599 | ENSG00000111319 | 600228 | 12p13.31 | sodium channel epithelial 1 subunit alpha | 19571553[PMID]_23416952[PMID]_23762408[PMID] |
| SCNN1B | ORPHA:171876Generalized pseudohypoaldosteronism type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10600 | ENSG00000168447 | 600760 | 16p12.2 | sodium channel epithelial 1 subunit beta | 19571553[PMID]_23426840[PMID] |
| SCNN1G | ORPHA:171876Generalized pseudohypoaldosteronism type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10602 | ENSG00000166828 | 600761 | 16p12.2 | sodium channel epithelial 1 subunit gamma | 11231969[PMID]_19571553[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.12 / 100 000 | United Kingdom | Value and class | Validated | 24616761[PMID] |
| Point prevalence | Unknown | — | Europe | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/756
- This record as JSON: /data/d/756.json