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
100
49.6th percentile
Trials
2
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — TRPM6, TRPV6
- LiteraturePresent
100 matched papers (40 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 trialPresent
2 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
100
100 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.
100 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).
40 in the last 10 years · medium confidence · 49.6th percentile (publications denominator)
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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06576037·RECRUITING·Phase Ib Study of CBP-1019 in Combination With FOLFOX +/- Bevacizumab, Pembrolizumab, or Enzalutamide for Metastatic TRPV6-overexpressing Solid Tumors of Epithelial Origin
Conditions: Solid Tumor·Matched via recall expansion
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
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 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"
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" OR "TRPM6" OR "TRPV6"
Recall-expansion terms: TRPM6, TRPV6
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-26T23:25:27.505Z