CONDITION REFERENCE
Isolated hyperchlorhidrosis
Information from MedlinePlus Genetics about this condition and how it can be inherited.
About this condition
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt (sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers to the high levels of chloride found in sweat, although both sodium and chloride are released. Because the salt is abnormally released from the body in sweat, there are lower than normal levels of sodium in fluids inside the body (hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or more episodes of dehydration with low levels of sodium in the blood (hyponatremic dehydration), which can require hospitalization. These episodes typically follow a mild illness that causes vomiting or diarrhea. Affected infants also have poor feeding and an inability to grow and gain weight at the expected rate (failure to thrive). By early childhood, though, weight and height usually catch up to normal, although the abnormal loss of salt still remains. These individuals may still experience dangerous hyponatremia when they sweat excessively, for example in warm temperatures or when exercising.
While hyperchlorhidrosis can occur as one of several features of other conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do not have the additional signs and symptoms of these other conditions.
Inheritance
- Autosomal recessive
A condition can have several forms with different inheritance patterns. Each pattern may apply to a different gene or form of the condition.
Related genes
MedlinePlus lists these genes for this condition. Open a gene page to read any available ClinGen reviews and ClinVar records.
YOUR DNA FILE
What can your DNA file tell you?
Your DNA file only includes the positions your test checked and reported. Consumer DNA kits usually test selected positions. Sequencing files can also leave out positions that were not reported or where the test could not give a result.
A variant missing from your file does not mean you tested negative for it. A ClinVar classification applies to a particular variant and the condition or finding it was reported for. It does not apply to everyone with that gene. An uncertain finding cannot establish a diagnosis.
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Sources and dates
The source information on this page last changed on 2026-09-18.
MedlinePlus Source details
Source release: Fri, 18 Sep 2026 05:17:13 GMT
Source publication: 2020-08-18
Source review: 2014-05
SHA-256: fdc8bd614310c12718379cef6569962e5d0e791cecabcc355b53a72816ac263a
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