Pseudohypoaldosteronism type 2D

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL HYPERKALEMIC HYPERTENSION
FHHT
PHA2D
Number of Symptoms 7
OrphanetNr: 300525
OMIM Id: 614495
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:0011423) Hyperchloremia 5 / 7739
4
(HPO:0002153) Hyperkalemia 25 / 7739
5
(HPO:0004918) Hyperchloremic metabolic acidosis 6 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial hyperkalemic hypertension, also known as type II pseudohypoaldosteronism (PHAII) or Gordon syndrome, is a rare autosomal dominant disease in which a net positive sodium ion balance is associated with renal potassium ion retention, resulting in hypertension, hyperkalemia, ...
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. Among these 52 kindreds, 8 ...
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; 614491) or dominant or recessive mutation in the ...
Molecular genetics OMIM Boyden et al. (2012) performed exome sequencing of 11 unrelated PHAII index cases without WNK mutations and identified novel KLHL3 mutations comprising 5 alleles in 3 kindreds, all of which cosegregated with the trait. Boyden et al. (2012) ...