ORPHA:970
Hereditary sensory and autonomic neuropathy type 2
Also known as: Autosomal recessive sensory radicular neuropathy · HSAN2 · Hereditary sensory and autonomic neuropathy type II · Neurogenic acroosteolysis
Publications
1,045
Trials
0
Interventional, condition-specific
Researchers
1,284
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare sensory and autonomic characterized by profound and universal sensory loss involving large and small fiber nerves.
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:0019941
- UMLS:C0020072
Additional Mondo synonyms (4)
Hereditary Sensory and Autonomic Neuropathy Type II · autosomal recessive sensory radicular neuropathy · hereditary sensory and autonomic neuropathy type II · neurogenic acroosteolysis
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,045 matched papers (520 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 trialPartial
None under the specific name; 2 for broader category hereditary sensory and autonomic neuropathy
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)
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?
1,045
1,045 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.
1,045 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).
520 in the last 10 years · low confidence
Phrase hits: 1,045 · MeSH hits: 0
Who's working on it?
1,284
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.
- 01Reilly MM10 papers · 2026
Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Papers in Europe PMC - 02Wang X5 papers · 2025
Department of Nutrition, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 03Ellis RJ4 papers · 2026
Department of Neurosciences, University of California San Diego, San Diego, CA 92093, USA.
Papers in Europe PMC - 04Brais B3 papers · 2011Papers in Europe PMC
- 05Chen H3 papers · 2024
Department of Medical Genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou 341000, China.
Papers in Europe PMC - 06Cortese A3 papers · 2025
Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 07Dominik N3 papers · 2026
Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Papers in Europe PMC - 08Guo Y3 papers · 2026
Ganzhou City Key Laboratory of Mental Health, The Third People’s Hospital of Ganzhou City, Ganzhou 341000, Jiangxi, China.
Papers in Europe PMC - 09Hornemann T3 papers · 2026
Institute for Clinical Chemistry, University Hospital and University of Zürich, 8006 Zürich, Switzerland.
Papers in Europe PMC - 10Laura M3 papers · 2026
Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
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). 2 trials are registered for hereditary sensory and autonomic neuropathy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
2 interventional trials matched hereditary sensory and autonomic neuropathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hereditary sensory and autonomic neuropathy
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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.
"Hereditary sensory and autonomic neuropathy type 2" OR "Autosomal recessive sensory radicular neuropathy" OR "HSAN2" OR "Hereditary sensory and autonomic neuropathy type II" OR "Neurogenic acroosteolysis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 2" OR "Autosomal recessive sensory radicular neuropathy" OR "HSAN2" OR "Hereditary sensory and autonomic neuropathy type II" OR "Neurogenic acroosteolysis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary sensory and autonomic neuropathy"
Query health: ok — strategies attempted: phrase; 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
- Publication count (1045) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T16:02:35.861Z