ORPHA:314381
Hereditary sensory and autonomic neuropathy type 6
Also known as: HSAN6 · Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
52
51.2th percentile
Trials
0
Interventional, condition-specific
Researchers
466
Distinct authors in sample
Gene link
DST
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare sensory and autonomic characterized by in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy.
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:0013839
- OMIM:614653
- UMLS:C3539003
Additional Mondo synonyms (4)
DST hereditary sensory and autonomic neuropathy · familial dysautonomia with contractures · hereditary sensory and autonomic neuropathy caused by mutation in DST · hereditary sensory and autonomic neuropathy type VI
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — DST
- LiteraturePresent
52 matched papers (44 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?
Yes — we know a specific gene responsible (DST).
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?
52
52 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.
52 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).
44 in the last 10 years · high confidence · 51.2th percentile (publications denominator)
Phrase hits: 52 · MeSH hits: 0
Who's working on it?
466
Distinct author names in 52 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.
- 01Takebayashi H7 papers · 2024
Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Papers in Europe PMC - 02Yoshioka N7 papers · 2024
Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Papers in Europe PMC - 03Horie M5 papers · 2022
Department of Nursing, Niigata College of Nursing, Jōetsu, Japan.
Papers in Europe PMC - 04Kothary R5 papers · 2020
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.
Papers in Europe PMC - 05Lynch-Godrei A5 papers · 2020
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.
Papers in Europe PMC - 06De Repentigny Y4 papers · 2020
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.
Papers in Europe PMC - 07Kurose M4 papers · 2024
Department of Physiology, School of Dentistry, Iwate Medical University, Iwate, Japan.
Papers in Europe PMC - 08Chiken S3 papers · 2024
Division of System Neurophysiology, National Institute for Physiological Sciences, Okazaki, Japan.
Papers in Europe PMC - 09Hahn I3 papers · 2022
Manchester Academic Health Science Centre, Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Manchester, United Kingdom.
Papers in Europe PMC - 10Nambu A3 papers · 2024
Division of System Neurophysiology, National Institute for Physiological Sciences, Okazaki, Japan.
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.
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.
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 6" OR "HSAN6" OR "Hereditary sensory and autonomic neuropathy type VI" OR "Familial dysautonomia with contractures" OR "DST hereditary sensory and autonomic neuropathy" OR "hereditary sensory and autonomic neuropathy caused by mutation in DST"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 6" OR "HSAN6" OR "Hereditary sensory and autonomic neuropathy type VI" OR "Familial dysautonomia with contractures" OR "DST hereditary sensory and autonomic neuropathy" OR "hereditary sensory and autonomic neuropathy caused by mutation in DST" OR "DST"
Recall-expansion terms: DST
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: 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 2026-07-27T13:05:48.651Z