ORPHA:542657
Isolated hyperchlorhidrosis
Also known as: Carbonic anhydrase XII deficiency
Publications
2,842
Trials
0
Interventional, condition-specific
Researchers
73
Distinct authors in sample
Gene link
CA12
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007747
- OMIM:143860
- UMLS:C1840437
Additional Mondo synonyms (2)
hyperchlorhidrosis, isolated · isolated hyperchlorhidrosis
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — CA12
- LiteraturePresent
2,842 matched papers (1,989 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Feeding difficulties; Hyperkalemia; Hypernatremic dehydration) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CA12).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
6
Associated phenotypes · MONDO:0007747
- Feeding difficulties
- Hyperkalemia
- Hypernatremic dehydration
- Elevated sweat chloride
- Failure to thrive
Showing 5 of 6 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
2,842
2,842 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
2,842 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,989 in the last 10 years · low confidence
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
73
Distinct author names in 11 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Adamson A1 paper · 2026Papers in Europe PMC
- 03Alanazi YA1 paper · 2025
Department of Pediatrics, College of Medicine, Majmaah University, Majmaah, Saudi Arabia.
Papers in Europe PMC - 04Alkrinawi S1 paper · 2014Papers in Europe PMC
- 05Bhatnagar A1 paper · 2023
Soleno Therapeutics, Inc., Redwood City, CA 94065, USA.
Papers in Europe PMC - 06Birk OS1 paper · 2014Papers in Europe PMC
- 07Bogdanski P1 paper · 2026Papers in Europe PMC
- 08Butler MG1 paper · 2023
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd., MS 4015, Kansas City, KS 66160, USA.
Papers in Europe PMC - 09Cariati F1 paper · 2019
KronosDNA srl, Spinoff of Università Federico II, Naples, Italy.
Papers in Europe PMC - 10Charchar FJ1 paper · 2026Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (60)
- ctis·2025-524703-76-00·Authorised·A randomized controlled non-inferiority trial comparing 7 versus 14 days of ciprofloxacin for male urinary tract infections with systemic involvement.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523922-42-00·Authorised·Randomized, multicenter, open-label clinical trial to evaluate the clinical and microbiological impact of methenamine hippurate as an alternative prophylaxis to antibiotics in the management of recurrent urinary tract infections in women
skipped — LLM skipped (--skip-llm)
- ctis·2025-523120-53-00·Authorised, ongoing·Prospective Multicenter Randomized Non-Inferiority Study Comparing 7 Days Versus 14 Days of Antibiotic Treatment for Graft Pyelonephritis in Kidney Transplant Recipients (KTI)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523261-25-00·Authorised·A phase 2, single arm, open label, study on the safety and feasibility of Liver Isolated Oxaliplatin (LIOX) delivered via arterial access device for treatment of liver metastasis in colorectal cancer patients
skipped — LLM skipped (--skip-llm)
- ctis·2023-509247-27-00·Authorised·Double blind, multicenter, randomized, controlled trial of dexmedetomidine vs placebo in premature neonates receiving invasive ventilation
skipped — LLM skipped (--skip-llm)
- ctis·2023-509392-17-00·Authorised·International Study for Treatment of Childhood Relapsed Precursor B-Cell ALL 2020 - A Randomized Phase III Study Conducted by the Resistant Disease Committee of the International BFM Study Group - IntReALL BCP 2020
skipped — LLM skipped (--skip-llm)
- ctis·2024-520089-70-00·Authorised, ongoing·LEISURE : Lenalidomide vs methotrexate in difficult-to-treat cutaneous lupus erythematosus (LEISURE trial): An assessor-blinded randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-518821-13-00·Authorised·A Phase 2b, Multicenter, Randomized, Double-blind, Parallel group, Placebo-controlled, Dose Range Finding Study to Evaluate the Efficacy, Safety, and Tolerability of Nebulized CSL787 in Adults (18 to 85 years) with Non-cystic Fibrosis Bronchiectasis
skipped — LLM skipped (--skip-llm)
- ctis·2025-521892-30-00·Authorised, ongoing·Comparing high and lOw-dose asPirin with dual anTIplatelet therapy for three Months using prasUgrel and aSpirin following Coronary Artery Bypass Grafting. (OPTIMUS-CABG trial).
skipped — LLM skipped (--skip-llm)
- ctis·2025-522053-18-00·Authorised, ongoing·Developing a first-void urine-based infection model to study HPV-specific antibody-virion interaction before and after vaccination with the Gardasil-9 HPV vaccine – a non-randomized open-label study.
skipped — LLM skipped (--skip-llm)
- ctis·2024-517016-30-00·Authorised, ongoing·A Phase 2, multicenter, randomized, double-blind, placebo controlled, dose-ranging study to evaluate the efficacy and safety of brivekimig in adults with moderate to severe Crohn’s disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518914-18-00·Authorised, ongoing·A Phase 2, Open-Label Extension Trial to Evaluate the Long-term Safety and Tolerability of Oral Zasocitinib (TAK-279) in Participants with Moderately to Severely Active Ulcerative Colitis and Moderately to Severely Active Crohn’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2023-509391-42-00·Authorised, recruiting·A Randomized, Double-blind, Phase 3b Study to Evaluate the Short- and Long-term Efficacy and Safety of Dual Targeted Therapy With Intravenous Vedolizumab and Oral Upadacitinib Compared With Intravenous Vedolizumab and Oral Placebo for Induction Followed by Intravenous Vedolizumab Monotherapy for Maintenance in the Treatment of Adults With Moderately to Severely Active Crohn’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-512873-29-00·Authorised·Efficacy of combined treatment by autologous cell therapy and percutaneous transluminal angioplasty (PTA) versus the treatment by isolated PTA in diabetic patients with chronic limb-threatening ischemia
skipped — LLM skipped (--skip-llm)
- ctis·2024-518607-21-00·Authorised, ongoing·ANtibiotic TReatment OPtimisation – randomised controlled trial of Clostridioides difficile infection therapy (ANTROP-I)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518694-33-00·Cancelled·The Italian Cohort (ITACO) and the Analytical Antiretroviral Treatment Interruption Italian Cohort (ITACO-ATI) study guided by molecular HIV-1 reservoir profiling
skipped — LLM skipped (--skip-llm)
- ctis·2025-520869-52-00·Authorised, ongoing·The effects of vitamin D on bone, muscle and adipose tissue: a randomized double-blind phase IV study
skipped — LLM skipped (--skip-llm)
- ctis·2024-519527-14-00·Cancelled·Multicenter, double-blind, randomized, placebo-controlled phase III clinical trial in parallel groups which evaluates the clinical efficacy and safety of immunotherapy with the purified major allergen Cup a 1, in patients with moderate/severe allergic rhino conjunctivitis with or without controlled asthma, sensitized to Cupressaceae
skipped — LLM skipped (--skip-llm)
- ctis·2024-517567-23-00·Expired·Effect of Dupilumab an mucus plugs and inflammatory patterns in
sEvere asThmAtiC paTients — a Pilot Study (DETACT)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516167-86-00·Authorised·LEONARD.LEvOsimendaN vs. Placebo Before Tricuspid VAlve Surgery in Patients with Right Ventricular Dysfunction (LEONARD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518172-31-01·Authorised, ongoing·ERIS: EGFR-Mutated Lung Cancer in Randomized Investigator-Initiated Study
skipped — LLM skipped (--skip-llm)
- ctis·2024-516112-21-00·Expired·Myechild 01: International Randomised Phase III Clinical Trial in Children with Acute Myeloid Leukaemia - Incorporating an Embedded Dose Finding Study for Gemtuzumab Ozogamicin in Combination with Induction Chemotherapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-516023-13-00·Expired·A Phase 3, Randomized, Placebo-Controlled, Double-Blind Study to Evaluate the Efficacy and Safety of Risankizumab Subcutaneous Induction Treatment in Subjects with Moderately to Severely Active Crohn’s Disease
skipped — LLM skipped (--skip-llm)
- ctis·2024-518901-16-00·Authorised, ongoing·BACILLE CALMETTE-GUÉRIN (BCG) VACCINE IN RADIOLOGICALLY ISOLATED SYNDROME (RIS)
skipped — LLM skipped (--skip-llm)
- ctis·2024-516708-40-00·Cancelled·SENtinel lymph node mapping with GAllium-68-tilmanocept PET/CT in high/high- intermediate risk endometrial cancer: a proof-of-concept study
skipped — LLM skipped (--skip-llm)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Isolated hyperchlorhidrosis — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Isolated hyperchlorhidrosis" OR "Carbonic anhydrase XII deficiency" OR "hyperchlorhidrosis, isolated") OR ("CA12" OR "CA12 syndrome" OR "CA12-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated hyperchlorhidrosis" OR "Carbonic anhydrase XII deficiency" OR "hyperchlorhidrosis, isolated"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2842) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T18:16:05.430Z