RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:478664

Hereditary sensory and autonomic neuropathy type 8

medium confidenceDisorder

Also known as: HSAN8 · Hereditary sensory and autonomic neuropathy type VIII

Publications

457

80.3th percentile

Trials

0

Interventional, condition-specific

Researchers

412

Distinct authors in sample

Gene link

PRDM12

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare sensory and autonomic characterized by impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal.

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 8 · hereditary sensory and autonomic neuropathy type VIII

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

    Definitive — PRDM12

  2. LiteraturePresent

    457 matched papers (381 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Hyposmia; Hypohidrosis; Corneal ulceration) 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; 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 (PRDM12).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0014662

  • Hyposmia
  • Hypohidrosis
  • Corneal ulceration
  • Impaired vibratory sensation
  • Gastrointestinal dysmotility

Showing 5 of 15 — 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?

457

457 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.

457 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).

381 in the last 10 years · medium confidence · 80.3th percentile (publications denominator)

Phrase hits: 48 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

412

Distinct author names in 48 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
    Heidari M3 papers · 2024

    Ariagene Medical Genetics Laboratory, Qom, Iran.

    Papers in Europe PMC
  2. 02
    Behrends C2 papers · 2025

    Munich Cluster for Systems Neurology (SyNergy), Medical Faculty, Ludwig-Maximilians-University München, Munich, Germany. christian.behrends@mail03.med.uni-muenchen.de.

    Papers in Europe PMC
  3. 03
    Bertelli M2 papers · 2020

    MAGI'S LAB, Rovereto (TN), Italy; MAGI EUREGIO, Bolzano, Italy; EBTNA-LAB, Rovereto (TN), Italy. matteo.bertelli@assomagi.org.

    Papers in Europe PMC
  4. 04
    Bhattacharya D2 papers · 2025

    Munich Cluster for Systems Neurology (SyNergy), Medical Faculty, Ludwig-Maximilians-University München, Munich, Germany.

    Papers in Europe PMC
  5. 05
    Drissi I2 papers · 2024

    Cambridge Institute for Medical Research, University of Cambridge, Cambridge Biomedical Campus, The Keith Peters Building, Hills Road, Cambridge CB2 0XY, UK.

    Papers in Europe PMC
  6. 06
    Gowda VK2 papers · 2024

    Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

    Papers in Europe PMC
  7. 07
    Kurth I2 papers · 2021

    Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.

    Papers in Europe PMC
  8. 08
    Lichtenthaler SF2 papers · 2025

    German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.

    Papers in Europe PMC
  9. 09
    Mansouritorghabeh H2 papers · 2013

    Allergy Research Center, Ghaem Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

    Papers in Europe PMC
  10. 10
    Moss C2 papers · 2024

    Department of Paediatric Dermatology, Birmingham Children's Women's and Children's NHS Foundation Trust, Birmingham, 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 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.

medium 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 8 — 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 8" OR "HSAN8" OR "Hereditary sensory and autonomic neuropathy type VIII") OR ("PRDM12" OR "PRDM12 syndrome" OR "PRDM12-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 8" OR "HSAN8" OR "Hereditary sensory and autonomic neuropathy type VIII"

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 (457) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T17:11:51.212Z