Pseudohypoaldosteronism type 2E

General Information (adopted from Orphanet):

Synonyms, Signs: PHA2E
Number of Symptoms 7
OrphanetNr: 300530
OMIM Id: 614496
ICD-10: I15.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pseudohypoaldosteronism type 2
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0008242) Pseudohypoaldosteronism 7 / 7739
2
(HPO:0000822) Hypertension 224 / 7739
3
(HPO:0004918) Hyperchloremic metabolic acidosis 6 / 7739
4
(HPO:0011423) Hyperchloremia 5 / 7739
5
(HPO:0001942) Metabolic acidosis 81 / 7739
6
(HPO:0002153) Hyperkalemia 25 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Boyden et al. (2012) studied a cohort of 52 PHAII kindreds, including 126 affected subjects with renal hyperkalemia and otherwise normal renal function; hypertension and acidosis were present in 71% and 82%, respectively. They detected 21 affected individuals ...
Genotype-Phenotype Correlations OMIM Boyden et al. (2012) observed that families with PHAII due to mutation in the WNK1 gene (PHA2C; 614492) are significantly less severely affected than those with mutation in the WNK4 gene (PHA2B; 614491) or dominant or recessive mutation ...
Molecular genetics OMIM After identifying mutations in the KLHL3 gene (605775) in kindreds with PHAII (see 614495), Boyden et al. (2012) considered CUL3, the presumed functional partner of KLHL3, as a candidate. Sequencing CUL3 in 21 index patients revealed 17 with ...