ORPHA:89937
Autosomal dominant hypophosphatemic rickets
Also known as: ADHR · Autosomal dominant hypophosphatemia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
12,680
Trials
1
Interventional, condition-specific
Researchers
1,002
Distinct authors in sample
Gene link
FGF23
Strong
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.
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:0008660
- MeSH:C562791
- OMIM:193100
- UMLS:C0342642
Additional Mondo synonyms (5)
autosomal dominant hereditary hypophosphatemic rickets · autosomal dominant hypophosphatemia · autosomal dominant hypophosphatemic rickets · hereditary hypophosphatemic rickets, autosomal dominant · hypophosphatemic rickets, autosomal dominant
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — FGF23
- LiteraturePresent
12,680 matched papers (9,181 in last 10 years) Source
- Phenotype characterisedPresent
26 HPO annotations (e.g. Muscle weakness; Growth delay; Iron deficiency anemia) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
1 matched on ClinicalTrials.gov
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 (FGF23).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
26
Associated phenotypes · MONDO:0008660
- Muscle weakness
- Growth delay
- Iron deficiency anemia
- Fatigue
- Bone fracture
Showing 5 of 26 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Fgf23tm1Blan/Fgf23tm1Blan PhexHyp/Y [background:] Not Specified·MGI:3512452·Mus musculus
- Tg(APOE-FGF23*R176Q)#Ack/0 [background:] involves: C57BL/6J * CBA·MGI:5466160·Mus musculus
- Fgf23tm1.1Kew/Fgf23tm1.1Kew [background:] B6.129-Fgf23tm1.1Kew·MGI:5305730·Mus musculus
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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
12,680
12,680 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
12,680 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).
9,181 in the last 10 years · low confidence
Phrase hits: 796 · MeSH hits: 0
Who's working on it?
1,002
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.
- 01Imel EA9 papers · 2026
Department of Medicine and Pediatrics, Endocrinology, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 02Fukumoto S7 papers · 2025
Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.
Papers in Europe PMC - 03Brandi ML4 papers · 2025
b Department of Internal Medicine, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy. m.brandi@dmi.unifi.it.
Papers in Europe PMC - 04Florenzano P4 papers · 2025
Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.
Papers in Europe PMC - 05Ito N4 papers · 2025
Osteoporosis Center, The University of Tokyo Hospital, Tokyo 113-8655, Japan.
Papers in Europe PMC - 06Kumar R4 papers · 2023
Division of Nephrology and Hypertension, Department of Internal Medicine, Mayo Clinic, 200 1st Street SW, MN, 55905, Rochester, USA. rkumar@mayo.edu.
Papers in Europe PMC - 07Xia W4 papers · 2024
Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, 100730, China. xiaweibo8301@163.com.
Papers in Europe PMC - 08Carpenter TO3 papers · 2025
Departments of Pediatrics (Endocrinology), and Orthopedics and Rehabilitation, Yale University School of Medicine, New Haven, CT 06520, USA.
Papers in Europe PMC - 09Chen X3 papers · 2024
Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University.
Papers in Europe PMC - 10Collins MT3 papers · 2025
Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institutes of Health , Bethesda, MD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting. 20 trials are registered for hypophosphatemic rickets, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: hypophosphatemic rickets
20
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06462547·RECRUITING·ADAPT Study: Long-term Safety Study of INZ-701 in Patients With ENPP1 Deficiency and ABCC6 Deficiency
Not reviewed·Conditions: Gene Mutations · Pseudoxanthoma Elasticum · Arterial Calcification · Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency·Matched via name phrase
- NCT05734196·RECRUITING·The ENERGY Study: Evaluation of Safety and Tolerability of INZ-701 in Infants With ENPP1 Deficiency or ABCC6 Deficiency
Not reviewed·Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy · ATP-Binding Cassette Subfamily C Member 6 Deficiency·Matched via name phrase
- NCT07473973·RECRUITING·ENERGY 2: Evaluation of the Efficacy and Safety of INZ-701 in Infants With ENPP1 Deficiency
Not reviewed·Conditions: Ectonucleotide Pyrophosphatase/phosphodiesterase1 Deficiency · Autosomal Recessive Hypophosphatemic Rickets · Generalized Arterial Calcification of Infancy 1·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 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 Autosomal dominant hypophosphatemic rickets — check Associations / patient organisations on that page.
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.
("Autosomal dominant hypophosphatemic rickets" OR "Autosomal dominant hypophosphatemia" OR "autosomal dominant hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal dominant" OR "hypophosphatemic rickets, autosomal dominant") OR (MESH:"Hypophosphatemic Rickets, Autosomal Dominant") OR ("FGF23" OR "FGF23 syndrome" OR "FGF23-related")MeSH descriptor terms unioned into the query: Hypophosphatemic Rickets, Autosomal Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant hypophosphatemic rickets" OR "Autosomal dominant hypophosphatemia" OR "autosomal dominant hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal dominant" OR "hypophosphatemic rickets, autosomal dominant"
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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypophosphatemic rickets"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ADHR
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 (12680) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:28:15.283Z