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ORPHA:456318

Hereditary sensory neuropathy-deafness-dementia syndrome

low confidenceDisorder

Also known as: HSAN1E · HSN1E · Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

31,636

Trials

0

Interventional, condition-specific

Researchers

482

Distinct authors in sample

Gene link

DNMT1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by sensorineural hearing loss, sensory , behavioral abnormalities, and dementia. Occurrence of has also been reported. Age of onset is between adolescence and adulthood. The disease is , with fatal outcome typically in the fifth to sixth decade.

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 (2)

Hereditary Sensory and Autonomic Neuropathy Type 1E · hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — DNMT1

  2. LiteraturePresent

    31,636 matched papers (22,377 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Hyporeflexia; Cerebral atrophy; Apathy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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; 2065 for broader category dementia

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 (DNMT1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0013584

  • Hyporeflexia
  • Cerebral atrophy
  • Apathy
  • Sensory neuropathy
  • Dementia

Showing 5 of 17 — 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?

31,636

31,636 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

31,636 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).

22,377 in the last 10 years · low confidence

Phrase hits: 86 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

482

Distinct author names in 86 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
    Klein CJ6 papers · 2020

    a Department of Neurology, Mayo Clinic , Rochester , MN , USA.

    Papers in Europe PMC
  2. 02
    Wu Y4 papers · 2019

    c Department of Laboratory Medicine and Pathology, Mayo Clinic , Rochester , MN , USA.

    Papers in Europe PMC
  3. 03
    Bjornsson HT3 papers · 2022

    Laboratory of Translational Medicine, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

    Papers in Europe PMC
  4. 04
    Carelli V3 papers · 2020

    IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna 40139, Italy.

    Papers in Europe PMC
  5. 05
    Duan X3 papers · 2021

    Department of Neurology; Mayo Clinic; Rochester, MN USA.

    Papers in Europe PMC
  6. 06
    Dyck PJ3 papers · 2015

    Department of Neurology; Mayo Clinic; Rochester, MN USA.

    Papers in Europe PMC
  7. 07
    Hojo K3 papers · 2020

    Harima Sanatorium; Division of Neuropsychiatry; Hyogo, Japan.

    Papers in Europe PMC
  8. 08
    Li J3 papers · 2021

    Department of Neurology (H.B., J.G.-R., E.K.S.L., E.P.F., S.N., D.T.J., M.C.P., S.K., C.J.K.), Mayo Clinic, Rochester, MN; Department of Neurology (H.B.), Beijing Friendship Hospital, China; Division of Neuropsychiatry (K.H.), Harima Sanatorium, Hyogo, Japan; Department of Neurology (M.W.), Ehime Prefectural Central Hospital, Matsuyama, Japan; Harvard Medical School (C.Y., K.M.), Boston Children's Hospital, MA; Center for Molecular Medicine and Genetics (S.S.), School of Medicine, Wayne State University, Detroit, MI; Department of Psychology (M.M.M.), Mayo Clinic, Rochester, MN; Atrium Health (I.S.H.), Neurosciences Institute, Concord, NC; Deapartment of Head and Neck Surgery (Y.R.), Oregon Health and Science University, Portland; Department of Laboratory Medicine and Pathology (Z.N., C.J.K.), Mayo Clinic, Rochester, MN; and Department of Neurology and Translational Neuroscience Initiative (J.L.), School of Medicine. Wayne State University, Detroit, MI.

    Papers in Europe PMC
  9. 09
    Mignot E3 papers · 2023

    Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA 94304, USA.

    Papers in Europe PMC
  10. 10
    Pizza F3 papers · 2023

    IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna 40139, Italy.

    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). 2,065 trials are registered for dementia, 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.

low 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.

2,065 interventional trials matched dementia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dementia

2,065

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.

Recruiting under the broader category

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 neuropathy-deafness-dementia syndrome — 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 neuropathy-deafness-dementia syndrome" OR "HSAN1E" OR "HSN1E" OR "Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" OR "Hereditary Sensory and Autonomic Neuropathy Type 1E") OR (MESH:"Hereditary Sensory and Autonomic Neuropathy Type Ie") OR ("DNMT1" OR "DNMT1 syndrome" OR "DNMT1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hereditary Sensory and Autonomic Neuropathy Type Ie

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hereditary sensory neuropathy-deafness-dementia syndrome" OR "HSAN1E" OR "HSN1E" OR "Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome" OR "Hereditary Sensory and Autonomic Neuropathy Type 1E" OR "Hereditary Sensory and Autonomic Neuropathy Type Ie"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"dementia"

Query health: suspect — strategies attempted: phrase, mesh; 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 (31636) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:45:19.590Z