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ORPHA:534

Oculocerebrorenal syndrome of Lowe

medium confidenceDisorder

Also known as: Lowe disease · Lowe oculo-cerebro-renal dystrophy · Lowe oculo-cerebro-renal syndrome · Lowe oculocerebrorenal dystrophy · Lowe syndrome · OCRL

Publications

1,487

86.4th percentile

Trials

1

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare multisystem disorder characterized by cataracts, glaucoma, intellectual disabilities, , postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,487 matched papers (776 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov (1 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,487

1,487 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.

1,487 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).

776 in the last 10 years · medium confidence · 86.4th percentile (publications denominator)

Phrase hits: 1,487 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

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
    Sun Y12 papers · 2026

    Stanford University, Department of Ophthalmology, 1651 Page Mill Road, Rm 2220, Palo Alto, CA 94304, USA yangsun@stanford.edu.

    Papers in Europe PMC
  2. 02
    Lowe M9 papers · 2025

    School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, The Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.

    Papers in Europe PMC
  3. 03
    Raghu P7 papers · 2025

    Cellular Organization and Signalling, National Centre for Biological Sciences, TIFR-GKVK Campus, Bellary Road, Bengaluru 560065, India.

    Papers in Europe PMC
  4. 04
    Ludwig M6 papers · 2016

    Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.

    Papers in Europe PMC
  5. 05
    Nozu K6 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: nozu@med.kobe-u.ac.jp.

    Papers in Europe PMC
  6. 06
    Bhatia P5 papers · 2025

    Brain Development and Disease Mechanisms, Institute for Stem Cell Science and Regenerative Medicine, Bengaluru 560065, India.

    Papers in Europe PMC
  7. 07
    Sakakibara N5 papers · 2026

    Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

    Papers in Europe PMC
  8. 08
    Sharma Y5 papers · 2025

    Cellular Organization and Signalling, National Centre for Biological Sciences, TIFR-GKVK Campus, Bellary Road, Bengaluru 560065, India.

    Papers in Europe PMC
  9. 09
    Vasudevan A5 papers · 2025

    Department of Pediatric Nephrology, St. John's Medical College Hospital, Bengaluru 560034, India.

    Papers in Europe PMC
  10. 10
    Bökenkamp A4 papers · 2026

    Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, The Netherlands.

    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; 1 currently recruiting in our sample.

Data as of 11 September 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).

medium 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.

Observational and natural-history studies

3 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 14 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · dropped 0 · fetched 2026-07-29

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 (14)

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 Oculocerebrorenal syndrome of Lowe — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

"Oculocerebrorenal syndrome of Lowe" OR "Oculocerebrorenal syndrome of the Lowe" OR "Lowe disease" OR "Lowe oculo-cerebro-renal dystrophy" OR "Lowe oculo-cerebro-renal syndrome" OR "Lowe oculocerebrorenal dystrophy" OR "Lowe syndrome"

Run this search on Europe PMC

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

"Oculocerebrorenal syndrome of Lowe" OR "Oculocerebrorenal syndrome of the Lowe" OR "Lowe disease" OR "Lowe oculo-cerebro-renal dystrophy" OR "Lowe oculo-cerebro-renal syndrome" OR "Lowe oculocerebrorenal dystrophy" OR "Lowe syndrome"

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 · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OCRL

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 2026-07-26T14:13:41.987Z