Pseudohypoaldosteronism type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: PHA2B
Number of Symptoms 7
OrphanetNr: 88939
OMIM Id: 614491
ICD-10: I15.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
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:0011423) Hyperchloremia 5 / 7739
4
(HPO:0002153) Hyperkalemia 25 / 7739
5
(HPO:0004918) Hyperchloremic metabolic acidosis 6 / 7739
6
(OMIM) Hyperchloremic metabolic acidosis, mild (HCO3 20.8 +/- 2.3 mM) 1 / 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 Farfel et al. (1978, 1978) described an Ashkenazi Jewish family in which some members had hyperkalemia (6-7 mEq/L) evident in childhood and hypertension that developed later in life. The patients had mild acidosis of the proximal renal tubular ...
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 WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 ...
Molecular genetics OMIM Wilson et al. (2001) identified the WNK4 gene (601844) between D17S250 and D17S579, within the minimum genetic interval containing the PHA2B locus. They identified 4 missense mutations in PHAII kindreds that had previously been linked to chromosome 17. ...