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ORPHA:1764

Familial dysautonomia

low confidenceDisorder

Also known as: HSAN3 · Hereditary sensory and autonomic neuropathy type 3 · Hereditary sensory and autonomic neuropathy type III · Riley-Day syndrome

Publications

3,816

Trials

11

Interventional, condition-specific

Researchers

888

Distinct authors in sample

Gene link

ELP1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare sensory and autonomic characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive , afferent baroreflex failure and optic .

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 (12)

Dysautonomia, Familial · HSAN 3 · HSAN III · HSN 3 · Riley Day syndrome · familial dysautonomia · hereditary sensory and autonomic neuropathy 3 · hereditary sensory and autonomic neuropathy type 3 · hereditary sensory and autonomic neuropathy type III · hereditary sensory neuropathy type 3 · neuropathy, hereditary sensory and autonomic, type 3 · neuropathy, hereditary sensory and autonomic, type III

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ELP1

  2. LiteraturePresent

    3,816 matched papers (1,454 in last 10 years) Source

  3. Phenotype characterisedPresent

    69 HPO annotations (e.g. Orthostatic hypotension; Gait disturbance; Malignant hyperthermia) Source

  4. Animal modelPresent

    5 genotype models (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 trialPresent

    11 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (ELP1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

69

Associated phenotypes · MONDO:0009131

  • Orthostatic hypotension
  • Gait disturbance
  • Malignant hyperthermia
  • Recurrent fractures
  • EMG abnormality

Showing 5 of 69 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

3,816

3,816 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

3,816 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).

1,454 in the last 10 years · low confidence

Phrase hits: 3,088 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

888

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Kaufmann H41 papers · 2026

    Department of Pediatrics, New York University, New York, USA.

    Papers in Europe PMC
  2. 02
    Norcliffe-Kaufmann L34 papers · 2026

    Department of Neurology, New York University School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  3. 03
    Palma JA23 papers · 2024

    Department of Neurology, Dysautonomia Center, New York University School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  4. 04
    Morini E19 papers · 2026

    Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  5. 05
    Lefcort F16 papers · 2026

    Department of Microbiology and Cell Biology, Montana State University-Bozeman, Bozeman, MT 59717, USA.

    Papers in Europe PMC
  6. 06
    Slaugenhaupt SA15 papers · 2026

    Center for Human Genetic Research, Massachusetts General Hospital Research Institute and Department of Neurology, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  7. 07
    Chekuri A13 papers · 2026

    Center for Genomic Medicine, Massachusetts General Hospital Research Institute, Boston, MA, USA.

    Papers in Europe PMC
  8. 08
    Salani M11 papers · 2026

    Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  9. 09
    Gao D8 papers · 2026

    Center for Genomic Medicine, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA; Department of Neurology, Massachusetts General Hospital Research Institute and Harvard Medical School, Boston, MA 02114, USA.

    Papers in Europe PMC
  10. 10
    Maayan C8 papers · 2026

    The Israeli FD Center at the Department of Pediatrics, Hebrew University Hadassah Medical School, Jerusalem, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

low confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Familial dysautonomia — 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.

("Familial dysautonomia" OR "HSAN3" OR "Hereditary sensory and autonomic neuropathy type 3" OR "Hereditary sensory and autonomic neuropathy type III" OR "Riley-Day syndrome" OR "Dysautonomia, Familial" OR "HSAN 3" OR "HSAN III" OR "HSN 3" OR "Riley Day syndrome" OR "hereditary sensory and autonomic neuropathy 3" OR "hereditary sensory neuropathy type 3" OR "neuropathy, hereditary sensory and autonomic, type 3" OR "neuropathy, hereditary sensory and autonomic, type III") OR ("ELP1" OR "ELP1 syndrome" OR "ELP1-related")

Run this search on Europe PMC

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

"Familial dysautonomia" OR "HSAN3" OR "Hereditary sensory and autonomic neuropathy type 3" OR "Hereditary sensory and autonomic neuropathy type III" OR "Riley-Day syndrome" OR "Dysautonomia, Familial" OR "HSAN 3" OR "HSAN III" OR "HSN 3" OR "Riley Day syndrome" OR "hereditary sensory and autonomic neuropathy 3" OR "hereditary sensory neuropathy type 3" OR "neuropathy, hereditary sensory and autonomic, type 3" OR "neuropathy, hereditary sensory and autonomic, type III"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 11 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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 (3816) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T18:05:16.688Z