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ORPHA:456318

Hereditary sensory neuropathy-deafness-dementia syndrome

high confidenceDisorder

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

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

86

59.2th percentile

Trials

0

Interventional, condition-specific

Researchers

482

Distinct authors in sample

Gene link

DNMT1

Strong

Readiness

3/6

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.”

3/6 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

    86 matched papers (67 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 2044 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)

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?

86

86 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.

86 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).

67 in the last 10 years · high confidence · 59.2th percentile (publications denominator)

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). 2,044 trials are registered for dementia, 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.

2,044 interventional trials matched dementia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: dementia

2,044

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.

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 2026-07-26

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"

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" OR "DNMT1"

Recall-expansion terms: DNMT1

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