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Gitelman syndrome
1 OMIM reference -
2 associated genes
7 connected diseases
No signs/symptoms info
Disease Type of connection
Classic Bartter syndrome
Infantile Bartter syndrome with deafness
Baraitser-Winter syndrome
Cerebellar ataxia - hypogonadism
Developmental malformations - deafness - dystonia
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2B
Synonym(s):
- Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the genitourinary system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D053579
Gene symbol UniProt reference OMIM reference
CLCNKB P51801602023
SLC12A3 P55017600968
No signs/symptoms info available.