Pseudohypoaldosteronism type 2
diseaseOn this page
Also known as chloride shunt syndromefamilial hyperkalemic hypertensionGordon hyperkalemia-hypertension syndromehyperkalemia-hypertension syndrome, Gordon typehyperpotassemia and hypertension familialhypertensive hyperkalemiamineralocorticoid resistant hyperkalemiaPHA2PHAIIpseudohypoaldosteronism, type 2pseudohypoaldosteronism, type IISpitzer-Weinstein syndrome
Summary
Pseudohypoaldosteronism type 2 (MONDO:0019162) is a disease (an umbrella term covering 5 Mondo subtypes) and 2 clinical trials. Top therapeutic interventions include sodium zirconium cyclosilicate. A subtype of inherited pseudohypoaldosteronism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Umbrella term: 5 Mondo subtypes
- Phenotypes (HPO): 9
- Clinical trials: 2
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 180 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
9 HPO clinical features (Orphanet curated; top 9 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000822 | Hypertension | Very frequent (80-99%) |
| HP:0002153 | Hyperkalemia | Very frequent (80-99%) |
| HP:0002017 | Nausea and vomiting | Frequent (30-79%) |
| HP:0000164 | Abnormality of the dentition | Occasional (5-29%) |
| HP:0000682 | Abnormality of dental enamel | Occasional (5-29%) |
| HP:0001324 | Muscle weakness | Occasional (5-29%) |
| HP:0001510 | Growth delay | Occasional (5-29%) |
| HP:0003768 | Periodic paralysis | Occasional (5-29%) |
| HP:0004322 | Short stature | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pseudohypoaldosteronism type 2 |
| Mondo ID | MONDO:0019162 |
| OMIM | 145260 |
| Orphanet | 757 |
| ICD-11 | 715347509 |
| NCIT | C123252 |
| SNOMED CT | 15689008 |
| UMLS | C1449844 |
| MedGen | 259599 |
| GARD | 0004553 |
| Is cancer (heuristic) | no |
Also known as: chloride shunt syndrome · familial hyperkalemic hypertension · Gordon hyperkalemia-hypertension syndrome · hyperkalemia-hypertension syndrome, Gordon type · hyperpotassemia and hypertension familial · hypertensive hyperkalemia · mineralocorticoid resistant hyperkalemia · PHA2 · PHAII · pseudohypoaldosteronism, type 2 · pseudohypoaldosteronism, type II · Spitzer-Weinstein syndrome
Disease family
This is a subtype of inherited pseudohypoaldosteronism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › renal tubular transport disease › pseudohypoaldosteronism › inherited pseudohypoaldosteronism › pseudohypoaldosteronism type 2
Related subtypes (1): pseudohypoaldosteronism type 1
Subtypes (5): pseudohypoaldosteronism type 2A, pseudohypoaldosteronism type 2B, pseudohypoaldosteronism type 2C, pseudohypoaldosteronism type 2D, pseudohypoaldosteronism type 2E
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE3 | 1 |
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05004363 | PHASE3 | COMPLETED | Lokelma for RAAS Maximisation in CKD & Heart Failure. |
| NCT05687474 | Not specified | COMPLETED | Baby Detect : Genomic Newborn Screening |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SODIUM ZIRCONIUM CYCLOSILICATE | 4 | 1 |