ORPHA:1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Also known as: Boucher-Neuhäuser syndrome
Publications
137
55.3th percentile
Trials
0
Interventional, condition-specific
Researchers
818
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A very rare , slowly neurodegenerative disorder characterized by the triad of cerebellar (that generally manifests at adolescence or early adulthood), chorioretinal , which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). -hypogonadism-choroidal syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar -hypogonadism 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:0008980
- MeSH:C565850
- OMIM:215470
- UMLS:C1859093
Additional Mondo synonyms (5)
BNHS · Boucher-Neuhauser syndrome · Boucher-Neuhchäuser syndrome · chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism · spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
137 matched papers (87 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Hypogonadotropic hypogonadism; Ataxia; Chorioretinal dystrophy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0008980
- Hypogonadotropic hypogonadism
- Ataxia
- Chorioretinal dystrophy
- Babinski sign
- Decreased circulating luteinizing hormone level
Showing 5 of 35 — open Monarch for the full list.
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?
137
137 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=3967) is 59.
137 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).
87 in the last 10 years · medium confidence · 55.3th percentile (publications denominator)
Phrase hits: 137 · MeSH hits: 0
Who's working on it?
818
Distinct author names in 137 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.
- 01Hufnagel RB7 papers · 2026
Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Papers in Europe PMC - 02Synofzik M7 papers · 2024
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 03Liu J4 papers · 2026
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 04Schüle R4 papers · 2017
Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 05Kretzschmar D3 papers · 2022
Oregon Institute of Occupational Health Sciences, Oregon Health & Science University, Portland, OR, United States.
Papers in Europe PMC - 06Kumar KR3 papers · 2024
Departments of Neurology and Neurogenetics Kolling Institute of Medical Research and Royal North Shore Hospital University of Sydney Sydney New South Wales Australia.
Papers in Europe PMC - 07Stevanin G3 papers · 2017Papers in Europe PMC
- 08Wang Y3 papers · 2022
Chongqing Key Laboratory of Big Data for Bio-Intelligence, School of Bio-information, Chongqing University of Posts and Telecommunications, Chongqing 400065, China.
Papers in Europe PMC - 09Züchner S3 papers · 2024
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Papers in Europe PMC - 10Albertson AJ2 papers · 2009
Department of Zoology and Physiology & Neurobiology Program, University of Wyoming, Dept 3166, 1000 E University Avenue, Laramie, WY 82071, USA.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Ataxia-hypogonadism-choroidal dystrophy syndrome — check Associations / patient organisations on that page.
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.
"Ataxia-hypogonadism-choroidal dystrophy syndrome" OR "Boucher-Neuhäuser syndrome" OR "Boucher-Neuhauser syndrome" OR "Boucher-Neuhchäuser syndrome" OR "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" OR "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ataxia-hypogonadism-choroidal dystrophy syndrome" OR "Boucher-Neuhäuser syndrome" OR "Boucher-Neuhauser syndrome" OR "Boucher-Neuhchäuser syndrome" OR "chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism" OR "spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy"
Study-type breakdown: 0 interventional · 0 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: BNHS
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 2026-07-26T16:35:57.628Z