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ORPHA:314381

Hereditary sensory and autonomic neuropathy type 6

high confidenceDisorder

Also known as: HSAN6 · Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures

Publications

104

55.7th percentile

Trials

0

Interventional, condition-specific

Researchers

466

Distinct authors in sample

Gene link

DST

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — DST

  2. LiteraturePresent

    104 matched papers (90 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Hypotonia; Gastroesophageal reflux; Generalized hypotonia) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

38

Associated phenotypes · MONDO:0013839

  • Hypotonia
  • Gastroesophageal reflux
  • Generalized hypotonia
  • Hyperpyrexia
  • Ventricular septal defect

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

104

104 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.

104 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).

90 in the last 10 years · high confidence · 55.7th percentile (publications denominator)

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Takebayashi H7 papers · 2024

    Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  2. 02
    Yoshioka N7 papers · 2024

    Division of Neurobiology and Anatomy, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.

    Papers in Europe PMC
  3. 03
    Horie M5 papers · 2022

    Department of Nursing, Niigata College of Nursing, Jōetsu, Japan.

    Papers in Europe PMC
  4. 04
    Kothary R5 papers · 2020

    Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.

    Papers in Europe PMC
  5. 05
    Lynch-Godrei A5 papers · 2020

    Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.

    Papers in Europe PMC
  6. 06
    De Repentigny Y4 papers · 2020

    Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada K1H 8L6.

    Papers in Europe PMC
  7. 07
    Kurose M4 papers · 2024

    Department of Physiology, School of Dentistry, Iwate Medical University, Iwate, Japan.

    Papers in Europe PMC
  8. 08
    Chiken S3 papers · 2024

    Division of System Neurophysiology, National Institute for Physiological Sciences, Okazaki, Japan.

    Papers in Europe PMC
  9. 09
    Hahn 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
  10. 10
    Nambu 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 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.

high 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.

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.

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 2026-07-30

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 Hereditary sensory and autonomic neuropathy type 6 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("DST syndrome" OR "DST-related")

Run this search on Europe PMC

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"

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

Ingested 2026-07-27T13:05:48.651Z