isolated hyperchlorhidrosis
MONDO:0007747Mondo
Findings
No curated finding names isolated hyperchlorhidrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated sweat chlorideHPOHP:0012236
- 7 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 7 reported patients
- Feeding difficultiesHPOHP:0011968
- 7 of 7 reported patients
- Hypernatremic dehydrationHPOHP:0004906
- 5 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CA12HGNC:1371
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: isolated hyperchlorhidrosis
- Also called
- hyperchlorhidrosis, isolated