Bartter syndrome type 3

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Bartter syndrome type 3

ORPHA:93605Clinical subtype

Also called Bartter syndrome type III

What it is

A form of Bartter syndrome characterized by a later age at onset than the other types of Bartter syndrome, typically presenting beyond the first year of life with failure to thrive, hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone and low to normal blood pressure.

Key facts

Age of onset
Adolescent, Adult, Childhood, Infancy
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Prevalence
1-9 / 100 000 (at birth, Kuwait)Bartter syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Gene

CLCNKBDisease-causing germline mutation(s)

ICD-10 codes

E26.8filed under a broader ICD-10 category — shared with 7 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 9659MESH C537653MONDO 0011822OMIM 607364UMLS C1846343

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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