HYPOKALEMIC ALKALOSIS, FAMILIAL, WITH SPECIFIC RENAL TUBULOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs: GULLNER SYNDROME
HYPOKALEMIA, FAMILIAL
Number of Symptoms 14
OrphanetNr:
OMIM Id: 241150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000114) Proximal tubulopathy 18 / 7739
2
(HPO:0012378) Fatigue 50 / 7739
3
(HPO:0000848) Increased circulating renin level 14 / 7739
4
(HPO:0002018) Nausea 44 / 7739
5
(HPO:0002013) Vomiting 191 / 7739
6
(HPO:0004921) Abnormality of magnesium homeostasis 1 / 7739
7
(HPO:0001949) Hypokalemic alkalosis 5 / 7739
8
(HPO:0002900) Hypokalemia 45 / 7739
9
(HPO:0003566) Increased serum prostaglandin E2 4 / 7739
10
(HPO:0003394) Muscle cramps 106 / 7739
11
(OMIM) Resistance of BP to angiotensin II 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Intermittent vomiting 1 / 7739
14
(OMIM) Sodium wasting 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Potter et al. (1974) described a 'new' form of familial hypokalemia in 2 brothers. (Two sisters and a third brother had elevated plasma renin levels and/or decreased plasma potassium levels.) The older brother had fatigue and muscle cramps, ...
Molecular genetics OMIM In 2 Chinese patients with hypokalemia of unknown cause, metabolic alkalosis, and normal to low blood pressure, both of whom were heterozygous for known mutations in the SLC12A3 gene (600968) that had previously been found in patients with ...