Pseudohypoaldosteronism type 2C

General Information (adopted from Orphanet):

Synonyms, Signs: PHA2C
Number of Symptoms 7
OrphanetNr: 88940
OMIM Id: 614492
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:0002153) Hyperkalemia 25 / 7739
4
(HPO:0001942) Metabolic acidosis 81 / 7739
5
(HPO:0011423) Hyperchloremia 5 / 7739
6
(OMIM) Hyperchloremic metabolic acidosis, mild, in some cases (HCO3 22.4 +/- 4.6 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 Disse-Nicodeme et al. (2000) analyzed a large French pedigree in which 12 affected members over 3 generations confirmed autosomal dominant inheritance. Affected subjects had hypertension together with long-term hyperkalemia (range, 5.2-6.2 mmol/liter), hyperchloremia (range, 100-109 mmol/liter), normal plasma ...
Genotype-Phenotype Correlations OMIM Boyden et al. (2012) observed that families with PHAII due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B; 614491) or dominant or recessive mutation in the KLHL3 ...
Molecular genetics OMIM Wilson et al. (2001) found that members of a family with PHAII carried a deletion in the interval between D12S341 and D12S91. Further evaluation indicated that affected family members had a heterozygous 41-kb deletion within intron 1 of ...