ORPHA:300547
Autosomal recessive infantile hypercalcemia
Also known as: Familial infantile hypercalcemia with suppressed intact parathyroid hormone · IIH · Idiopathic infantile hypercalcemia · Infantile hypercalcaemia type 1
Publications
652
Trials
3
Interventional, condition-specific
Researchers
1,111
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with , , vomiting, constipation and/or polyuria.
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:0000212
- MeSH:C562999
- UMLS:C4329374
- NCIT:C129734
Additional Mondo synonyms (11)
autosomal recessive hypercalcemia, infantile · autosomal recessive infantile hypercalcemia · familial infantile hypercalcemia with suppressed intact parathyroid hormone · hypercalcemia disease of infancy · hypercalcemia, idiopathic, of infancy · hypercalcemia, infantile · hypercalcemia, infantile, autosomal recessive · idiopathic infantile hypercalcemia · infantile hypercalcemia · infantile hypercalcemia disease · infantile onset hypercalcemia disease
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
652 matched papers (380 in last 10 years) Source
- Phenotype characterisedPresent
23 HPO annotations (e.g. Infantile onset; Kidney stone; Medullary nephrocalcinosis) 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 trialPresent
3 matched on ClinicalTrials.gov (2 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
23
Associated phenotypes · MONDO:0000212
- Infantile onset
- Kidney stone
- Medullary nephrocalcinosis
- Decreased circulating parathyroid hormone level
- Hypercalcemia
Showing 5 of 23 — 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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
652
652 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.
652 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).
380 in the last 10 years · low confidence
Phrase hits: 652 · MeSH hits: 1
Who's working on it?
1,111
Distinct author names in 200 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.
- 01Jones G16 papers · 2024
Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON, Canada.
Papers in Europe PMC - 02Kaufmann M12 papers · 2024
Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON, Canada.
Papers in Europe PMC - 03Schlingmann KP10 papers · 2021
University Children's Hospital, Muenster, Germany.
Papers in Europe PMC - 04Marcocci C7 papers · 2024
Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 05Cappellani D6 papers · 2024
Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 06
- 07
- 08Brancatella A5 papers · 2024
Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 09Cetani F5 papers · 2024
Department of Clinical and Experimental Medicine, Unit of Endocrinology, University of Pisa, Pisa, Italy.
Papers in Europe PMC - 10Levine MA5 papers · 2023
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 11 September 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT03301038·RECRUITING·Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
Not reviewed·Conditions: Idiopathic Infantile Hypercalcaemia - Severe Form · Genetic Disease · Hypercalcemia, Idiopathic, of Infancy · Hypercalciuric Hypercalcemia·Matched via name phrase
- NCT04987073·RECRUITING·Vitamin D Analog in Vitamin D 24-hydroxylase Deficiency
Not reviewed·Conditions: Idiopathic Infantile Hypercalcemia - Severe Form·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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)
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 Autosomal recessive infantile hypercalcemia — 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.
"Autosomal recessive infantile hypercalcemia" OR "Familial infantile hypercalcemia with suppressed intact parathyroid hormone" OR "Idiopathic infantile hypercalcemia" OR "Infantile hypercalcaemia type 1" OR "autosomal recessive hypercalcemia, infantile" OR "hypercalcemia disease of infancy" OR "hypercalcemia disease of the infancy" OR "hypercalcemia, idiopathic, of infancy" OR "hypercalcemia, idiopathic, of the infancy" OR "hypercalcemia, infantile" OR "hypercalcemia, infantile, autosomal recessive" OR "infantile hypercalcemia" OR "infantile hypercalcemia disease" OR "infantile onset hypercalcemia disease"
MeSH descriptor terms unioned into the query: Hypercalcemia, Infantile
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive infantile hypercalcemia" OR "Familial infantile hypercalcemia with suppressed intact parathyroid hormone" OR "Idiopathic infantile hypercalcemia" OR "Infantile hypercalcaemia type 1" OR "autosomal recessive hypercalcemia, infantile" OR "hypercalcemia disease of infancy" OR "hypercalcemia disease of the infancy" OR "hypercalcemia, idiopathic, of infancy" OR "hypercalcemia, idiopathic, of the infancy" OR "hypercalcemia, infantile" OR "hypercalcemia, infantile, autosomal recessive" OR "infantile hypercalcemia" OR "infantile hypercalcemia disease" OR "infantile onset hypercalcemia disease"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 3 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IIH
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (652) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:41:52.963Z