ORPHA:157215
Hereditary hypophosphatemic rickets with hypercalciuria
Also known as: HHRH
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
395
81.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,119
Distinct authors in sample
Gene link
SLC34A3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.
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:0009431
- MeSH:C562793
- OMIM:241530
- UMLS:C1853271
- NCIT:C131450
Additional Mondo synonyms (3)
hypercalciuric hypophosphatemic rickets · hypophosphatemic hypercalciuric rickets · hypophosphatemic rickets with hypercalciuria
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.”
2/6 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
Definitive — SLC34A3
- LiteraturePresent
395 matched papers (245 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?
Yes — we know a specific gene responsible (SLC34A3).
GenCC classification: Definitive.
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?
395
395 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.
395 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).
245 in the last 10 years · medium confidence · 81.7th percentile (publications denominator)
Phrase hits: 395 · MeSH hits: 0
Who's working on it?
1,119
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.
- 01Bergwitz C11 papers · 2026
Section of Endocrinology and Metabolism, Yale University School of Medicine, New Haven, Connecticut; clemens.bergwitz@yale.edu.
Papers in Europe PMC - 02Segawa H8 papers · 2020
Department of Molecular Nutrition, Institute of Health Bioscience, University of Tokushima Graduate School, Tokushima, Japan.
Papers in Europe PMC - 03Wagner CA8 papers · 2024
Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. wagnerca@access.uzh.ch.
Papers in Europe PMC - 04Hernando N7 papers · 2022
Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. hernando@physiol.uzh.ch.
Papers in Europe PMC - 05Carpenter TO6 papers · 2025
Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Papers in Europe PMC - 06Imel EA6 papers · 2025
Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 07Levine MA6 papers · 2025
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 08Miyamoto K6 papers · 2015Papers in Europe PMC
- 09Shiozaki Y6 papers · 2020
Department of Molecular Nutrition, University of Tokushima Graduate School.
Papers in Europe PMC - 10Brandi ML5 papers · 2025
Institute of Endocrine and Metabolic Sciences, Vita-Salute San Raffaele University and IRCCS, 20132 Milan, Italy.
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.
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.
Broader category hereditary hypophosphatemic rickets also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: hereditary hypophosphatemic rickets
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 2026-07-26Likely covered — the policy lists Hypophosphatemic rickets as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
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.
"Hereditary hypophosphatemic rickets with hypercalciuria" OR "hypercalciuric hypophosphatemic rickets" OR "hypophosphatemic hypercalciuric rickets" OR "hypophosphatemic rickets with hypercalciuria"
MeSH descriptor terms unioned into the query: Hypophosphatemic Rickets with Hypercalciuria, Hereditary
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary hypophosphatemic rickets with hypercalciuria" OR "hypercalciuric hypophosphatemic rickets" OR "hypophosphatemic hypercalciuric rickets" OR "hypophosphatemic rickets with hypercalciuria" OR "Hypophosphatemic Rickets with Hypercalciuria, Hereditary" OR "SLC34A3"
Recall-expansion terms: SLC34A3
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary hypophosphatemic rickets"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HHRH
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
Ingested 2026-07-27T07:58:29.624Z