ORPHA:391397
Hereditary sensory and autonomic neuropathy type 7
Also known as: CIP with hyperhidrosis and gastrointestinal dysfunction · Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction · HSAN with hyperhidrosis and gastrointestinal dysfunction · HSAN7 · Hereditary sensory and autonomic neuropathy type VII · Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
Publications
1,213
Trials
0
Interventional, condition-specific
Researchers
756
Distinct authors in sample
Gene link
SCN11A
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, periphery characterized by a insensitivity to pain, muscular and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is 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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014244
- OMIM:615548
- UMLS:C3809882
- NCIT:C125388
Additional Mondo synonyms (7)
SCN11A autosomal dominant hereditary sensory and autonomic neuropathy · SCN11A-CIP · autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A · congenital insensitivity to pain with gastrointestinal dysfunction · congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction · hereditary sensory and autonomic neuropathy type VII · hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
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.
- Gene identifiedPresent
Definitive — SCN11A
- LiteraturePresent
1,213 matched papers (852 in last 10 years) Source
- Phenotype characterisedPresent
9 HPO annotations (e.g. Poor wound healing; Pain insensitivity; Hyperhidrosis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (SCN11A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
9
Associated phenotypes · MONDO:0014244
- Poor wound healing
- Pain insensitivity
- Hyperhidrosis
- Pruritus
- Muscle weakness
Showing 5 of 9 — 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?
1,213
1,213 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.
1,213 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).
852 in the last 10 years · low confidence
Phrase hits: 111 · MeSH hits: 0
Who's working on it?
756
Distinct author names in 111 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.
- 01Reilly MM8 papers · 2024
National Hospital for Neurology and Neurosurgery, London, UK.
Papers in Europe PMC - 02Cortese A7 papers · 2025
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 03Houlden H5 papers · 2024
Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Papers in Europe PMC - 04Currò R3 papers · 2024
Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Papers in Europe PMC - 05Strupp M3 papers · 2026
Department of Neurology and German Center for Vertigo, Hospital of the LMU Munich, Germany.
Papers in Europe PMC - 06Szmulewicz DJ3 papers · 2026
University of Melbourne (DJS), Royal Victorian Eye & Ear Hospital, Melbourne, Australia; Department of Neuroscience (LR), St Vincent's Hospital, Melbourne, Australia; Department of Anatomical Pathology (CAL), Alfred Hospital, Melbourne, Australia; Vestibular Research Laboratory (HGM), School of Psychology, University of Sydney, Australia; Department of Neuroscience (GMH), Monash University, Melbourne, Australia; and Department of Neurology (ES), Royal Prince Alfred Hospital, Sydney, Australia.
Papers in Europe PMC - 07Abati E2 papers · 2023
Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.
Papers in Europe PMC - 08Anheim M2 papers · 2024
Service de Neurologie, Département de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 1, Avenue Molière, 67098, Strasbourg Cedex, France. mathieu.anheim@chru-strasbourg.fr.
Papers in Europe PMC - 09Baskan GN2 papers · 2024
Department of Neurology, Ege University Medical School Bornova, Izmir, 35100, Turkey.
Papers in Europe PMC - 10Becker-Bense S2 papers · 2026
German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians-Universität München, Marchioninistr. 15, 81377, Munich, Germany.
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.
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 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 7 — check Associations / patient organisations on that page.
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 on the overview but are not added to the query string.
("Hereditary sensory and autonomic neuropathy type 7" OR "CIP with hyperhidrosis and gastrointestinal dysfunction" OR "Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" OR "HSAN with hyperhidrosis and gastrointestinal dysfunction" OR "HSAN7" OR "Hereditary sensory and autonomic neuropathy type VII" OR "Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" OR "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" OR "SCN11A-CIP" OR "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" OR "congenital insensitivity to pain with gastrointestinal dysfunction") OR ("SCN11A" OR "SCN11A syndrome" OR "SCN11A-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 7" OR "CIP with hyperhidrosis and gastrointestinal dysfunction" OR "Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" OR "HSAN with hyperhidrosis and gastrointestinal dysfunction" OR "HSAN7" OR "Hereditary sensory and autonomic neuropathy type VII" OR "Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction" OR "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" OR "SCN11A-CIP" OR "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" OR "congenital insensitivity to pain with gastrointestinal dysfunction"
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 (1213) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:04:24.283Z