ORPHA:85278
Christianson syndrome
Also known as: X-linked Angelman-like syndrome
Publications
217
75.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,238
Distinct authors in sample
Gene link
SLC9A6
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare developmental defect during embryogenesis characterized by intellectual deficit, , postnatal microcephaly, and hyperkinesis.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010278
- MeSH:C567484
- OMIM:300243
- UMLS:C2678194
Additional Mondo synonyms (5)
MRXSCH · intellectual developmental disorder, X-linked syndromic, Christianson type · intellectual disability, X-linked syndromic, Christianson type · intellectual disability, microcephaly, epilepsy, and ataxia syndrome · mental retardation, microcephaly, epilepsy, and ataxia syndrome
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
Definitive — SLC9A6
- LiteraturePresent
217 matched papers (163 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 (SLC9A6).
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?
217
217 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
217 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).
163 in the last 10 years · medium confidence · 75.4th percentile (publications denominator)
Phrase hits: 217 · MeSH hits: 0
Who's working on it?
1,238
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.
- 01Morrow EM26 papers · 2026
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02912, USA.
Papers in Europe PMC - 02Schmidt M17 papers · 2026
Department of Molecular Biology, Cell Biology and Biochemistry, and Institute for Brain Science, Brown University, Laboratory for Molecular Medicine, 70 Ship Street, Providence, RI 02903, USA.
Papers in Europe PMC - 03Ouyang Q13 papers · 2026
Department of Molecular Biology, Cell Biology and Biochemistry, and Institute for Brain Science, Brown University, Laboratory for Molecular Medicine, 70 Ship Street, Providence, RI 02903, USA.
Papers in Europe PMC - 04Ma L11 papers · 2026
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA.
Papers in Europe PMC - 05Orlowski J11 papers · 2026
Department of Physiology, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 06McKinney RA10 papers · 2026
Department of Pharmacology & Therapeutics, McGill University, Montreal, QC, Canada.
Papers in Europe PMC - 07Pescosolido MF10 papers · 2024
Department of Molecular Biology, Cell Biology, and Biochemistry and Laboratory for Molecular Medicine, Institute for Brain Science, Brown University, Providence, RI; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Warren Alpert Medical School of Brown University, East Providence, RI.
Papers in Europe PMC - 08Rao R9 papers · 2025
From the Department of Physiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205 rrao@jhmi.edu.
Papers in Europe PMC - 09Ilie A7 papers · 2026
Department of Physiology, McGill University, Montreal, Quebec, Canada.
Papers in Europe PMC - 10Prasad H7 papers · 2025
From the Department of Physiology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"Christianson syndrome" OR "X-linked Angelman-like syndrome" OR "MRXSCH" OR "intellectual developmental disorder, X-linked syndromic, Christianson type" OR "intellectual disability, X-linked syndromic, Christianson type" OR "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" OR "mental retardation, microcephaly, epilepsy, and ataxia syndrome"
MeSH descriptor terms unioned into the query: Mental Retardation, X-Linked, Syndromic, Christianson Type
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Christianson syndrome" OR "X-linked Angelman-like syndrome" OR "MRXSCH" OR "intellectual developmental disorder, X-linked syndromic, Christianson type" OR "intellectual disability, X-linked syndromic, Christianson type" OR "intellectual disability, microcephaly, epilepsy, and ataxia syndrome" OR "mental retardation, microcephaly, epilepsy, and ataxia syndrome" OR "Mental Retardation, X-Linked, Syndromic, Christianson Type" OR "SLC9A6"
Recall-expansion terms: SLC9A6
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:51:43.157Z