Gitelman syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: POTASSIUM AND MAGNESIUM DEPLETION
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Number of Symptoms 20
OrphanetNr: 358
OMIM Id: 263800
ICD-10: N15.8
UMLs: C0268450
MeSH: D053579
MedDRA: 10062906
Snomed: 3188003

Prevalence, inheritance and age of onset:

Prevalence: 2.5 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic renal tubular disease
 -Rare genetic disease
Rare renal tubular disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0003127) Hypocalciuria 7 / 7739
2
(HPO:0000128) Renal potassium wasting 6 / 7739
3
(HPO:0005567) Renal magnesium wasting 5 / 7739
4
(HPO:0000103) Polyuria 60 / 7739
5
(HPO:0001959) Polydipsia 43 / 7739
6
(HPO:0003401) Paresthesia 42 / 7739
7
(HPO:0003470) Paralysis 11 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0000848) Increased circulating renin level 14 / 7739
10
(HPO:0000934) Chondrocalcinosis 13 / 7739
11
(HPO:0002027) Abdominal pain rare [HPO:skoehler] 184 / 7739
12
(HPO:0002900) Hypokalemia 45 / 7739
13
(HPO:0001949) Hypokalemic alkalosis 5 / 7739
14
(HPO:0002917) Hypomagnesemia 19 / 7739
15
(HPO:0003394) Muscle cramps 106 / 7739
16
(HPO:0003324) Generalized muscle weakness 48 / 7739
17
(HPO:0001281) Tetany 20 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Paralysis, episodic, after strenuous exercise 1 / 7739
20
(HPO:0003621) Juvenile onset 105 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset ...
Clinical Description OMIM It has been proposed that Bartter syndrome, defined generically as an autosomal recessive disorder featuring hypokalemic metabolic alkalosis with salt wasting, is a heterogeneous entity with at least 2 subsets, Gitelman syndrome and 'true Bartter syndrome.' Simon et ...
Molecular genetics OMIM In patients with Gitelman syndrome, Simon et al. (1996) identified a wide variety of nonconservative mutations in the SLC12A3 gene consistent with loss-of-function alleles (600968.0001). Many of their patients were genetic compounds and this, together with the finding ...