ORPHA:59306
McLeod neuroacanthocytosis syndrome
Also known as: MLS · X-linked McLeod syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
571
Trials
0
Interventional, condition-specific
Researchers
997
Distinct authors in sample
Gene link
XK
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.
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:0018945
- MeSH:C564038
- OMIM:300842
- UMLS:C0398568
Additional Mondo synonyms (2)
McLeod syndrome · XK disease
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — XK
- LiteraturePresent
571 matched papers (247 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (XK).
GenCC classification: Strong.
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?
571
571 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.
571 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).
247 in the last 10 years · low confidence
Phrase hits: 571 · MeSH hits: 0
Who's working on it?
997
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.
- 01Danek A32 papers · 2026
Neurologische Klinik und Poliklinik, Ludwig-Maximilians-Universität Marchioninistr. 15 D-81366 Munich, Germany. danek@lmu.de
Papers in Europe PMC - 02Walker RH27 papers · 2026
Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA ; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 03Jung HH26 papers · 2025
Department of Neurology, University Hospital Zurich, Zurich, Switzerland.
Papers in Europe PMC - 04Peikert K16 papers · 2026
Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany.
Papers in Europe PMC - 05Hermann A12 papers · 2026
Division for Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, 01307 Dresden, Germany; DZNE, German Centre for Neurodegenerative Diseases, Research Site Dresden, 01307 Dresden, Germany. Electronic address: andreas.hermann@uniklinikum-dresden.de.
Papers in Europe PMC - 06Frey BM10 papers · 2025
Blood Transfusion Service SRK, 8952 Schlieren, Zurich, Switzerland. Electronic address: bm.frey@zhbsd.ch.
Papers in Europe PMC - 07Kaestner L7 papers · 2026
Experimental Physics, Saarland University, 66123 Saarbruecken, Germany.
Papers in Europe PMC - 08De Camilli P5 papers · 2023
Department of Neuroscience, Howard Hughes Medical Institute, Program in Cellular Neuroscience, Neurodegeneration and Repair, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, USA; Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA. Electronic address: pietro.decamilli@yale.edu.
Papers in Europe PMC - 09Gassner C5 papers · 2022
Blood Transfusion Service SRK, 8952 Schlieren, Zurich, Switzerland.
Papers in Europe PMC - 10Miranda M5 papers · 2024
Department of Neurology, Clinica Las Condes, Santiago, Chile.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th 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 neuroacanthocytosis 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: neuroacanthocytosis
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.
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 2026-07-26This 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.
"McLeod neuroacanthocytosis syndrome" OR "X-linked McLeod syndrome" OR "McLeod syndrome" OR "XK disease"
MeSH descriptor terms unioned into the query: Neuroacanthocytosis, Mcleod Type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"McLeod neuroacanthocytosis syndrome" OR "X-linked McLeod syndrome" OR "McLeod syndrome" OR "XK disease" OR "Neuroacanthocytosis, Mcleod Type" OR "XK"
Recall-expansion terms: XK
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"neuroacanthocytosis"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MLS
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 (571) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T01:01:22.506Z