ORPHA:30924
Primary hypomagnesemia with secondary hypocalcemia
Also known as: Hypomagnesemia caused by selective magnesium malabsorption · Hypomagnesemia intestinal type 1 · Intestinal hypomagnesemia with secondary hypocalcemia · PHSH · HOMG1 · HSH
Publications
17,259
Trials
0
Interventional, condition-specific
Researchers
397
Distinct authors in sample
Gene link
TRPM6, TRPV6
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized , tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
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:0011176
- MeSH:C566593
- OMIM:602014
- UMLS:C1865974
Additional Mondo synonyms (10)
TRPM6 familial primary hypomagnesemia · TRPM6 primary hypomagnesemia · familial primary hypomagnesemia caused by mutation in TRPM6 · hypomagnesemia caused by selective magnesium malabsorption · hypomagnesemia intestinal type 1 · hypomagnesemic tetany · intestinal hypomagnesemia type 1 · intestinal hypomagnesemia with secondary hypocalcemia · primary hypomagnesemia caused by mutation in TRPM6 · primary hypomagnesemia with secondary hypocalcemia
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 — TRPM6, TRPV6
- LiteraturePresent
17,259 matched papers (9,435 in last 10 years) Source
- Phenotype characterisedPresent
5 HPO annotations (e.g. Seizure; Hypomagnesemia; Hypocalcemia) 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 (TRPM6, TRPV6).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
5
Associated phenotypes · MONDO:0011176
- Seizure
- Hypomagnesemia
- Hypocalcemia
- Muscle spasm
- Tetany
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?
17,259
17,259 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
17,259 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).
9,435 in the last 10 years · low confidence
Phrase hits: 100 · MeSH hits: 0
Who's working on it?
397
Distinct author names in 100 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.
- 01Meyer H5 papers · 1976Papers in Europe PMC
- 02Scholz H5 papers · 1976Papers in Europe PMC
- 03Schlingmann KP4 papers · 2021
Department of General Pediatrics, University Children's Hospital, Münster 48149, Germany. Electronic address: karlpeter.schlingmann@ukmuenster.de.
Papers in Europe PMC - 04Gudermann T3 papers · 2025
Walther Straub Institute of Pharmacology and Toxicology, LMU Munich, Munich, Germany. thomas.gudermann@lrz.uni-muenchen.de.
Papers in Europe PMC - 05Konrad M3 papers · 2018
Department of General Pediatrics, University Children's Hospital, Münster 48149, Germany.
Papers in Europe PMC - 06Belton NR2 papers · 1977Papers in Europe PMC
- 07Chubanov V2 papers · 2025
Walther Straub Institute of Pharmacology and Toxicology, LMU Munich, Munich, Germany. vladimir.chubanov@lrz.uni-muenchen.de.
Papers in Europe PMC - 08Cockburn F2 papers · 1977Papers in Europe PMC
- 09Forfar JO2 papers · 1977Papers in Europe PMC
- 10Fraser D2 papers · 1973Papers 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29
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 (4)
- isrctn·ISRCTN50261938·Suspended·Study to evaluate treatment efficacy by monitoring minimal residual disease in an early breast cancer population
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12278036·No longer recruiting·A study of bleximenib in combination with acute myeloid leukemia-directed therapies
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN45319897·No longer recruiting·A study to evaluate the safety, tolerability, processing by the body, and antitumor activity of inavolisib and paclitaxel
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN37422164·No longer recruiting·Combination treatment for early hormone-positive HER-positive breast cancer
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 Primary hypomagnesemia with secondary hypocalcemia — 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.
("Primary hypomagnesemia with secondary hypocalcemia" OR "Hypomagnesemia caused by selective magnesium malabsorption" OR "Hypomagnesemia intestinal type 1" OR "Intestinal hypomagnesemia with secondary hypocalcemia" OR "HOMG1" OR "TRPM6 familial primary hypomagnesemia" OR "TRPM6 primary hypomagnesemia" OR "familial primary hypomagnesemia caused by mutation in TRPM6" OR "hypomagnesemic tetany" OR "intestinal hypomagnesemia type 1" OR "primary hypomagnesemia caused by mutation in TRPM6") OR ("TRPM6" OR "TRPM6 syndrome" OR "TRPM6-related" OR "TRPV6" OR "TRPV6 syndrome" OR "TRPV6-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary hypomagnesemia with secondary hypocalcemia" OR "Hypomagnesemia caused by selective magnesium malabsorption" OR "Hypomagnesemia intestinal type 1" OR "Intestinal hypomagnesemia with secondary hypocalcemia" OR "HOMG1" OR "TRPM6 familial primary hypomagnesemia" OR "TRPM6 primary hypomagnesemia" OR "familial primary hypomagnesemia caused by mutation in TRPM6" OR "hypomagnesemic tetany" OR "intestinal hypomagnesemia type 1" OR "primary hypomagnesemia caused by mutation in TRPM6"
Study-type breakdown: 0 interventional · 1 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
Synonyms dropped by stoplist: PHSH; HSH
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (17259) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T23:25:27.505Z