ORPHA:139564
Hereditary sensory and autonomic neuropathy type 1B
Also known as: HSAN with cough and gastroesophageal reflux · HSAN1B · Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux · Hereditary sensory and autonomic neuropathy type IB
Clinical definition (Orphanet)
A rare sensory and autonomic characterized by adult-onset chronic, paroxysmal and dry cough and gastro-oesophageal reflux preceeding the . Cough is usually triggered by noxious odors, inhalation of fumes, eating dry food, lying flat or tactile stimulation of external auditory canal, and it may progress into cough syncope. Frequent throat clearing and hoarse voice may also be present. Gastro-oesophageal reflux usually presents with mild heartburn, however regurgitation and acid brash are reported in more severe cases. Sensory symptoms develop later in life (between the third and fifth decades) with variable severities. Patients may have sensory loss in the upper and lower limbs, lancinating pains, superficial painless injuries or truncal . Bilateral high frequency sensorineural hearing loss is common. Additional clinical features may include retinal detachment, alacrima, urinary urgency, constipation and impotence. Nerve biopsy showed loss of unmyelinated and myelinated axons.
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.
Is anyone studying this?
38
38 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=183) is 38.
38 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
19 in the last 10 years · high confidence · 40.2th percentile (publications denominator)
Is a treatment being tested?
0
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).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
618
Distinct author names in 38 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.
- 01Brown RH Jr3 papers · 2021
Department of Neurology, University of Massachusetts Medical School, Worcester.
Papers in Europe PMC - 02Chiò A3 papers · 2021
'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Papers in Europe PMC - 03Gibbs RA3 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 04Jhangiani SN3 papers · 2022
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 05Landers JE3 papers · 2021
Department of Neurology, University of Massachusetts Medical School, Worcester.
Papers in Europe PMC - 06Lupski JR3 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: jlupski@bcm.edu.
Papers in Europe PMC - 07Mora G3 papers · 2021
Department of Neurorehabilitation, Istituti Clinici Scientifici Maugeri IRCCS, Institute of Milan, Milan, Italy.
Papers in Europe PMC - 08Nollet F3 papers · 2013Papers in Europe PMC
- 09Shaw PJ3 papers · 2021
Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom.
Papers in Europe PMC - 10Abramzon Y2 papers · 2021
Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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 below but are not added to the query string.
"Hereditary sensory and autonomic neuropathy type 1B" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "Hereditary sensory and autonomic neuropathy type IB"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 1B" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "Hereditary sensory and autonomic neuropathy type IB"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C1842586
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