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isolated hyperchlorhidrosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated hyperchlorhidrosis

MONDO:0007747

Also known as:hyperchlorhidrosis, isolated

Overview

GeneticsAutosomal recessive · CA12 (chr 15)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Failure to thrive, Feeding difficulties, and Elevated sweat chloride; and common findings: Hypernatremic dehydration. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	1	Failure to thrive

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CA12 encodes carbonic anhydrase 12 (354 aa). Reversible hydration of carbon dioxide Highest expression in Kidney Cortex (158.7 TPM) and Skin Not Sun Exposed Suprapubic (156.6 TPM).

Isolated hyperchlorhidrosis is associated with mutations in the CA12 gene on chromosome 15.

The CA12 protein participates in Carbonic anhydrase dehydrates bicarbonate (plasma membrane) and Carbonic anhydrase hydrates carbon dioxide (plasma membrane) pathways.

CA12 is classified as a druggable target (Druggable Genome category) with score 7.5.

Diagnosis

Genetic testing for CA12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isolated hyperchlorhidrosis.

2 publications have been identified in PubMed for isolated hyperchlorhidrosis. Research spans Other (50%) and Case Report / Case Series (50%).

Recent Publications

Xue B (2025). [PMID: 40327632](https://pubmed.ncbi.nlm.nih.gov/40327632/). *PLoS One*. [Other]
Alanazi YA (2025). [PMID: 40726654](https://pubmed.ncbi.nlm.nih.gov/40726654/). *J Family Med Prim Care*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:143860

Orphanet

European rare disease database

Orphanet:542657

GARD

Genetic and Rare Diseases Info Center

GARD:17984

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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isolated hyperchlorhidrosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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