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ORPHA:89936

X-linked hypophosphatemia

medium confidenceDisorder

Also known as: X-linked hypophosphatemic rickets · XLH

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

Publications

2,705

95th percentile

Trials

29

Interventional, condition-specific

Researchers

1,149

Distinct authors in sample

Gene link

PHEX

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

X-linked dominant hypophosphatemic rickets · X-linked hereditary hypophosphatemic rickets · hereditary hypophosphatemic rickets, X-linked · hypophosphatemic rickets, X-linked · hypophosphatemic rickets, X-linked dominant, X-linked dominant · rickets, vitamin D-resistant · vitamin D-resistant rickets, X-linked

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PHEX

  2. LiteraturePresent

    2,705 matched papers (1,678 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    29 matched on ClinicalTrials.gov (2 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?

Yes — we know a specific gene responsible (PHEX).

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?

2,705

2,705 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=5449) is 41.

2,705 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).

1,678 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 2,705 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,149

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.

  1. 01
    Fukumoto S11 papers · 2026

    Department of Medicine, Tamaki-Aozora Hospital, 779-3125 Tokushima, Japan.

    Papers in Europe PMC
  2. 02
    Imel EA10 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Brandi ML9 papers · 2026

    Donatello Bone Clinic, Villa Donatello Hospital, Florence, Italy.

    Papers in Europe PMC
  4. 04
    Carpenter TO9 papers · 2026

    Yale University School of Medicine, Department of Pediatrics and Department of Orthopaedics and Rehabilitation, New Haven, CT, United States of America.

    Papers in Europe PMC
  5. 05
    Ozono K9 papers · 2026

    Center for Promoting Treatment of Intractable Diseases, ISEIKAI International General Hospital, 4-14 Minamiogimachi, Kita-ku, Osaka-shi, Osaka, 530-0052, Japan.

    Papers in Europe PMC
  6. 06
    Baroncelli GI8 papers · 2026

    Pediatric and Adolescent Endocrinology, Division of Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.

    Papers in Europe PMC
  7. 07
    Ito N7 papers · 2026

    Osteoporosis Center, The University of Tokyo Hospital, Tokyo 113-8655, Japan.

    Papers in Europe PMC
  8. 08
    Li Z7 papers · 2026

    Kyowa Kirin, Inc., 510 Carnegie Center Dr. Suite 600, Princeton, NJ, 08540, USA.

    Papers in Europe PMC
  9. 09
    Linglart A7 papers · 2026

    Paris Saclay University, INSERM, AP-HP, Bicêtre Paris Saclay Hospital, Le Kremlin Bicêtre Cedex, France.

    Papers in Europe PMC
  10. 10
    Michigami T7 papers · 2026

    Department of Bone and Mineral Research, Osaka Women's and Children's Hospital, Izumi, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

29

interventional trials for this specific condition

29 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 27 July 2026

29 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 95.6th percentile).

medium confidence · 95.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

29 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

15 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"X-linked hypophosphatemia" OR "X-linked hypophosphatemic rickets" OR "X-linked dominant hypophosphatemic rickets" OR "X-linked hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, X-linked" OR "hypophosphatemic rickets, X-linked" OR "hypophosphatemic rickets, X-linked dominant, X-linked dominant" OR "rickets, vitamin D-resistant" OR "vitamin D-resistant rickets, X-linked"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"X-linked hypophosphatemia" OR "X-linked hypophosphatemic rickets" OR "X-linked dominant hypophosphatemic rickets" OR "X-linked hereditary hypophosphatemic rickets" OR "hereditary hypophosphatemic rickets, X-linked" OR "hypophosphatemic rickets, X-linked" OR "hypophosphatemic rickets, X-linked dominant, X-linked dominant" OR "rickets, vitamin D-resistant" OR "vitamin D-resistant rickets, X-linked" OR "PHEX"

Recall-expansion terms: PHEX

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: 29 interventional · 15 observational · 1 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: XLH

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 2026-07-27T03:28:01.535Z