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1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
2 OMIM references -
3 associated genes
No signs/symptoms info
Gitelman syndrome
Infantile Bartter syndrome with deafness

CLCNKB BSND
SLC12A3 CLCNKA
CLCNKB


COMMON
GENES
CLCNKB



Citations in the biomedical literature:


Gitelman syndrome
CLCNKB SLC12A3
Infantile Bartter syndrome with deafness
BSND CLCNKA



Gitelman syndrome
Infantile Bartter syndrome with deafness

Synonym(s):
- Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria

Synonym(s):
- Bartter syndrome type 4

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D053579
External references:
2 OMIM references -
No MeSH references

No signs/symptoms info available.