ORPHA:31043
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Also known as: FHHNC without severe ocular involvement · HOMG3 · Renal hypomagnesemia type 3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
9
24.9th percentile
Trials
0
Interventional, condition-specific
Researchers
48
Distinct authors in sample
Gene link
CLDN16
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
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:0009550
- MeSH:C537153
- OMIM:248250
- UMLS:C0268448
Additional Mondo synonyms (5)
CLDN16 familial primary hypomagnesemia · CLDN16 primary hypomagnesemia · familial primary hypomagnesemia caused by mutation in CLDN16 · primary hypomagnesemia caused by mutation in CLDN16 · renal hypomagnesemia type 3
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — CLDN16
- LiteraturePresent
9 matched papers (8 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 5 for broader category nephrocalcinosis
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 (CLDN16).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
9
9 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
9 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
8 in the last 10 years · high confidence · 24.9th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
48
Distinct author names in 9 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.
- 01Katoh M2 papers · 2024
Department of Global Network, M & M Precision Medicine, Tokyo 113‑0033, Japan.
Papers in Europe PMC - 02Adeerjiang Y1 paper · 2025
Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
Papers in Europe PMC - 03Baker MS1 paper · 2016Papers in Europe PMC
- 04Baldini N1 paper · 2019
Laboratory for Orthopedic Pathophysiology and Regenerative Medicine, IRCCS Istituto Ortopedico Rizzoli, via di Barbiano 1/10, 40136 Bologna, Italy.
Papers in Europe PMC - 05Beavis RC1 paper · 2016
Department of Biochemistry and Medical Genetics, University of Manitoba , 744 Bannatyne Avenue, Winnipeg, Manitoba R3E 0W3, Canada.
Papers in Europe PMC - 06Bockenhauer D1 paper · 2021
Department of Renal Medicine, University College London, NW3 2PF, London, UK. d.bockenhauer@ucl.ac.uk.
Papers in Europe PMC - 07Campbell CA1 paper · 2017
Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA.
Papers in Europe PMC - 08Caudarella R1 paper · 2019
Maria Cecilia Hospital, GVM Care and Research, Via Corriera 1, 48033 Cotignola (RA), Italy.
Papers in Europe PMC - 09Darbro BW1 paper · 2017
Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA.
Papers in Europe PMC - 10Denker E1 paper · 2024
Department of Biological Sciences, University of Bergen, Bergen, Norway.
Papers 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). 5 trials are registered for nephrocalcinosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
5 interventional trials matched nephrocalcinosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: nephrocalcinosis
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07435844·RECRUITING·Effect of Comprehensive Spa Care on Kidney and Urological Conditions: A Clinical Study in Adult Patients
Conditions: Urologic Diseases · Urinary Tract Infections · Nephrolithiasis · Nephrocalcinosis·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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.
"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" OR "FHHNC without severe ocular involvement" OR "HOMG3" OR "Renal hypomagnesemia type 3" OR "CLDN16 familial primary hypomagnesemia" OR "CLDN16 primary hypomagnesemia" OR "familial primary hypomagnesemia caused by mutation in CLDN16" OR "primary hypomagnesemia caused by mutation in CLDN16"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" OR "FHHNC without severe ocular involvement" OR "HOMG3" OR "Renal hypomagnesemia type 3" OR "CLDN16 familial primary hypomagnesemia" OR "CLDN16 primary hypomagnesemia" OR "familial primary hypomagnesemia caused by mutation in CLDN16" OR "primary hypomagnesemia caused by mutation in CLDN16" OR "CLDN16" OR "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
Recall-expansion terms: CLDN16, familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"nephrocalcinosis"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T23:26:45.361Z