ORPHA:306516
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Also known as: FHHNC · Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis · Michellis-Castrillo syndrome
Publications
289
74.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,039
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
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:0017624
- UMLS:C5679977
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
289 matched papers (158 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 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
289
289 papers have ever been published on this condition (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.
289 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).
158 in the last 10 years · medium confidence · 74.7th percentile (publications denominator)
Phrase hits: 289 · MeSH hits: 0
Who's working on it?
1,039
Distinct author names in 200 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.
- 01Konrad M19 papers · 2025
Department of Pediatrics, University of Münster, Waldeyerstrasse 22, 48149 Münster, Germany. konradma@uni-muenster.de
Papers in Europe PMC - 02Hou J16 papers · 2019
Renal Division and Center for Investigation of Membrane Excitability Diseases, Washington University in St. Louis, 660 South Euclid Avenue, St. Louis, MO 63110, USA. jhou@wustl.edu.
Papers in Europe PMC - 03Müller D11 papers · 2024
Department of Pediatric Nephrology, Charite Children's Hospital and Center for Cardiovascular Research, 12200 Berlin, Germany.
Papers in Europe PMC - 04Houillier P10 papers · 2024
Cordeliers Research Center, Centre National de la Recherche Scientifique (CNRS), ERL8228, Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne University, University of Paris, Paris, France.
Papers in Europe PMC - 05Ariceta G7 papers · 2025
Fisiopatologia Renal, Centre d'Investigacions en Bioquímica i Biologia Molecular (CIBBIM), Institut de Recerca Vall d'Hebron (VHIR), Barcelona, Spain.
Papers in Europe PMC - 06Vargas-Poussou R7 papers · 2022
Department of Genetics, AP-HP, European Hospital Georges Pompidou, Paris, France.
Papers in Europe PMC - 07Breiderhoff T6 papers · 2024
Department of Pediatric Nephrology, Charité University School of Medicine, Berlin, Germany.
Papers in Europe PMC - 08Bockenhauer D5 papers · 2021
UCL Centre for Nephrology and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom d.bockenhauer@ucl.ac.uk.
Papers in Europe PMC - 09Claverie-Martin F5 papers · 2021
Unidad de Investigación, Hospital Nuestra Señora de Candelaria , Santa Cruz de Tenerife , Spain.
Papers in Europe PMC - 10Goodenough DA5 papers · 2010Papers 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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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" OR "FHHNC" OR "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" OR "Michellis-Castrillo syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis" OR "FHHNC" OR "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis" OR "Michellis-Castrillo syndrome"
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 (289) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T12:47:18.519Z