ORPHA:247651
Infantile hypophosphatasia
Also known as: Infantile Rathbun disease · Infantile phosphoethanolaminuria
Publications
244
67.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,100
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, severe, genetic form of hypophosphatasia (HPP) characterized by rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.
How rare: How common this is has not been clearly measured.
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
244 matched papers (108 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?
244
244 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.
244 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).
108 in the last 10 years · high confidence · 67.8th percentile (publications denominator)
Phrase hits: 244 · MeSH hits: 0
Who's working on it?
1,100
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.
- 01Whyte MP24 papers · 2019
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, 63110, USA.
Papers in Europe PMC - 02Millán JL21 papers · 2022
Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
Papers in Europe PMC - 03Hatch NE11 papers · 2022
Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan Ann Arbor, MI, USA.
Papers in Europe PMC - 04Nam HK11 papers · 2023
Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan Ann Arbor, MI, USA.
Papers in Europe PMC - 05Narisawa S10 papers · 2021
The Burnham Institute, La Jolla, California 92037, USA.
Papers in Europe PMC - 06Liu J7 papers · 2020
Department of Orthodontics and Pediatric Dentistry, School of Dentistry, University of Michigan Ann Arbor, MI, USA.
Papers in Europe PMC - 07McAlister WH7 papers · 2019
Department of Pediatric Radiology, Mallinckrodt Institute of Radiology at St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
Papers in Europe PMC - 08Greenberg CR6 papers · 2012
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Papers in Europe PMC - 09Chodirker BN5 papers · 1991
Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Papers in Europe PMC - 10Evans JA5 papers · 2015
Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Man. jevans@ms.umanitoba.ca.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
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.
None of the matched observational studies is currently listed as recruiting.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Infantile hypophosphatasia" OR "Infantile Rathbun disease" OR "Infantile phosphoethanolaminuria"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Infantile hypophosphatasia" OR "Infantile Rathbun disease" OR "Infantile phosphoethanolaminuria"
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
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 2026-07-27T10:33:42.271Z