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ORPHA:157215

Hereditary hypophosphatemic rickets with hypercalciuria

low confidenceDisorder

Also known as: HHRH

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,202

Trials

0

Interventional, condition-specific

Researchers

1,119

Distinct authors in sample

Gene link

SLC34A3

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — SLC34A3

  2. LiteraturePresent

    1,202 matched papers (813 in last 10 years) Source

  3. Phenotype characterisedPresent

    59 HPO annotations (e.g. Hypophosphatemia; Hypercalciuria; Hyperphosphaturia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

59

Associated phenotypes · MONDO:0009431

  • Hypophosphatemia
  • Hypercalciuria
  • Hyperphosphaturia
  • Hypophosphatemic rickets
  • Abnormality of the skeletal system

Showing 5 of 59 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0009431

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,202

1,202 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.

1,202 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).

813 in the last 10 years · low confidence

Phrase hits: 395 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Bergwitz C11 papers · 2026

    Section of Endocrinology and Metabolism, Yale University School of Medicine, New Haven, Connecticut; clemens.bergwitz@yale.edu.

    Papers in Europe PMC
  2. 02
    Segawa H8 papers · 2020

    Department of Molecular Nutrition, Institute of Health Bioscience, University of Tokushima Graduate School, Tokushima, Japan.

    Papers in Europe PMC
  3. 03
    Wagner CA8 papers · 2024

    Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. wagnerca@access.uzh.ch.

    Papers in Europe PMC
  4. 04
    Hernando N7 papers · 2022

    Institute of Physiology, University of Zürich, Winterthurerstrasse 190, 8057, Zurich, Switzerland. hernando@physiol.uzh.ch.

    Papers in Europe PMC
  5. 05
    Carpenter TO6 papers · 2025

    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.

    Papers in Europe PMC
  6. 06
    Imel EA6 papers · 2025

    Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

    Papers in Europe PMC
  7. 07
    Levine 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
  8. 08
    Miyamoto K6 papers · 2015
    Papers in Europe PMC
  9. 09
    Shiozaki Y6 papers · 2020

    Department of Molecular Nutrition, University of Tokushima Graduate School.

    Papers in Europe PMC
  10. 10
    Brandi 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 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.

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

Open the complete matched search on ClinicalTrials.gov

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Hereditary hypophosphatemic rickets with hypercalciuria — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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") OR (MESH:"Hypophosphatemic Rickets with Hypercalciuria, Hereditary") OR ("SLC34A3" OR "SLC34A3 syndrome" OR "SLC34A3-related")

Run this search on Europe PMC

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"

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; 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
  • Publication count (1202) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:58:29.624Z