Pseudohypoaldosteronism type 2

General Information (adopted from Orphanet):

Synonyms, Signs: PHA2
PHAII
Hyperkaliemia - hypertension, Gordon type
Spitzer-Weinstein syndrome
Hypertensive hyperkalemia
Familial hyperkalemic hypertension
Gordon hyperkalemia-hypertension syndrome
Chloride shunt syndrome
Mineralocorticoid resistant hyperkalemia
Number of Symptoms 13
OrphanetNr: 757
OMIM Id: 145260
614491
614492
614495
614496
ICD-10: I15.1
UMLs: C1449844
MeSH:
MedDRA:
Snomed: 15689008

Prevalence, inheritance and age of onset:

Prevalence: 80 families [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
2
 (HPO:0000682) Abnormality of dental enamel Occasional [Orphanet] 102 / 7739
3
 (HPO:0007215) Periodic hyperkalemic paralysis 3 / 7739
4
 (HPO:0008242) Pseudohypoaldosteronism 7 / 7739
5
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
6
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
7
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
8
 (HPO:0000822) Hypertension Very frequent [Orphanet] 224 / 7739
9
 (HPO:0001995) Hyperchloremic acidosis 4 / 7739
10
 (HPO:0002153) Hyperkalemia Very frequent [Orphanet] 25 / 7739
11
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
12
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: