ORPHA:289176
Autosomal recessive hypophosphatemic rickets
Also known as: ARHR
Publications
521
77.4th percentile
Trials
6
Interventional, condition-specific
Researchers
1,040
Distinct authors in sample
Gene link
—
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017324
- UMLS:C0342643
Additional Mondo synonyms (3)
autosomal recessive hereditary hypophosphatemic rickets · hereditary hypophosphatemic rickets, autosomal recessive · hypophosphatemic rickets, autosomal recessive
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
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
521 matched papers (326 in last 10 years) Source
- Phenotype characterisedPresent
55 HPO annotations (e.g. Genu varum; Short stature; Delayed skeletal maturation) Source
- Animal modelPresent
2 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
6 matched on ClinicalTrials.gov (3 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)
55
Associated phenotypes · MONDO:0017324
- Genu varum
- Short stature
- Delayed skeletal maturation
- Coxa valga
- Medullary nephrocalcinosis
Showing 5 of 55 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- Tg(APOE-FGF23*R176Q)#Ack/0 [background:] involves: C57BL/6J * CBA·MGI:5466160·Mus musculus
- Dmp1tm1Mis/Dmp1tm1Mis [background:] involves: 129S7/SvEvBrd * CD-1·MGI:5694692·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?
521
521 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.
521 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).
326 in the last 10 years · medium confidence · 77.4th percentile (publications denominator)
Phrase hits: 521 · MeSH hits: 0
Who's working on it?
1,040
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.
- 01Ferreira CR14 papers · 2026
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. ferreiracr@mail.nih.gov.
Papers in Europe PMC - 02Braddock DT11 papers · 2026
Department of Pathology, Yale University, New Haven, CT, USA.
Papers in Europe PMC - 03Rutsch F11 papers · 2026
Department of General Pediatrics, Muenster University Children's Hospital, Muenster, Germany.
Papers in Europe PMC - 04Mughal MZ9 papers · 2026
Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester University Hospital's NHS Trust, Manchester, UK.
Papers in Europe PMC - 05Ito N7 papers · 2026
Division of Nephrology and Endocrinology The University of Tokyo Hospital Tokyo Japan.
Papers in Europe PMC - 06Levine MA7 papers · 2025
Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia and the Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Papers in Europe PMC - 07Sabbagh Y7 papers · 2026
Research and Development, Inozyme Pharma, 321 Summer St, Suite 400, Boston, MA 02201, USA.
Papers in Europe PMC - 08Carpenter TO6 papers · 2026
Department of Pediatrics at Yale University School of Medicine, New Haven, CT 06510, USA.
Papers in Europe PMC - 09Khursigara G6 papers · 2025
Inozyme Pharma Inc, Boston, Massachusetts, United States of America.
Papers in Europe PMC - 10Michigami T6 papers · 2023
Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan
Papers in Europe PMC
Clinical research
Is a treatment being tested?
6
interventional trials for this specific condition
6 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 15 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
6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).
medium confidence · 90.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
- 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
- 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
Broader category: hypophosphatemic rickets
15
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.
Observational and natural-history studies
4 observational studies match 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.
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 6 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519535-42-00·Authorised, recruiting·A Phase 1/2, First-in-Human, Open-label, Assessor-Masked, Randomized, Controlled, Dose Escalation/Expansion Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of a Subretinal Injection of SB-007 in Subjects with Stargardt Disease (STGD1) Caused by Bi-Allelic Autosomal Recessive Mutations in the ATP Binding Cassette Subfamily A Member 4 (ABCA4) Gene (ASTRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-512840-52-00·Cancelled·Evaluation of the efficacy and safety of empagliflozin in the treatment of neutropenia in patients with glycogenosis Ib. EMPAtia.
skipped — LLM skipped (--skip-llm)
- ctis·2023-508218-41-00·Authorised, recruiting·A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511971-13-00·Expired·An open label, non-randomized trial to evaluate the safety and efficacy of a single infusion of OTL-200 in patients with Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD)
skipped — LLM skipped (--skip-llm)
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 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 recessive hypophosphatemic rickets" OR "autosomal recessive hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal recessive" OR "hypophosphatemic rickets, autosomal recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive hypophosphatemic rickets" OR "autosomal recessive hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, autosomal recessive" OR "hypophosphatemic rickets, autosomal recessive"
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: 6 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypophosphatemic rickets"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ARHR
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 2026-07-27T12:10:55.090Z