ORPHA:1173
Cerebellar ataxia-hypogonadism syndrome
Also known as: Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
214
76.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,308
Distinct authors in sample
Gene link
RNF216
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Cerebellar -hypogonadism syndrome is a very rare neurodegenerative disorder characterized by the combination of cerebellar with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar -hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as -hypogonadism-choroidal syndrome.
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:0008935
- MeSH:C565870
- OMIM:212840
- UMLS:C1859305
Additional Mondo synonyms (1)
luteinizing hormone-releasing hormone deficiency with ataxia
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 — RNF216
- LiteraturePresent
214 matched papers (176 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 (RNF216).
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?
214
214 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.
214 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).
176 in the last 10 years · high confidence · 76.5th percentile (publications denominator)
Phrase hits: 214 · MeSH hits: 0
Who's working on it?
1,308
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.
- 01Synofzik M11 papers · 2025
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen and German Center for Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
Papers in Europe PMC - 02Hufnagel RB7 papers · 2026
Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Papers in Europe PMC - 03Liu J5 papers · 2026
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 04Schüle R5 papers · 2017
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 05Cui M4 papers · 2024
Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Papers in Europe PMC - 06Dong Q4 papers · 2024
Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Papers in Europe PMC - 07George AJ4 papers · 2024
Neuroscience Institute, Georgia State University, Atlanta, GA, United States.
Papers in Europe PMC - 08Howard SR4 papers · 2024
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK. Electronic address: s.howard@qmul.ac.uk.
Papers in Europe PMC - 09Kinsella JA4 papers · 2020
Neurology Department, St. Vincent's University Hospital and University College Dublin, Ireland.
Papers in Europe PMC - 10Kretzschmar D4 papers · 2022
Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, 3181 SW Sam Jackson Park Road, Portland, Oregon, 97239.
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.
high 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.
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.
"Cerebellar ataxia-hypogonadism syndrome" OR "Gordon-Holmes syndrome" OR "Luteinizing hormone-releasing hormone deficiency with ataxia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cerebellar ataxia-hypogonadism syndrome" OR "Gordon-Holmes syndrome" OR "Luteinizing hormone-releasing hormone deficiency with ataxia" OR "RNF216"
Recall-expansion terms: RNF216
Study-type breakdown: 0 interventional · 0 observational · 0 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:34:23.246Z