ORPHA:642
Hereditary sensory and autonomic neuropathy type 4
Also known as: CIPA · Congenital insensitivity to pain with anhidrosis · HSAN4 · Hereditary sensory and autonomic neuropathy type IV
Publications
572
84.7th percentile
Trials
4
Interventional, condition-specific
Researchers
995
Distinct authors in sample
Gene link
NTRK1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare sensory and autonomic characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009746
- OMIM:256800
- UMLS:C0020074
- NCIT:C118633
Additional Mondo synonyms (6)
Hereditary Sensory and Autonomic Neuropathy Type IV · NTRK1 hereditary sensory and autonomic neuropathy · congenital insensitivity to pain with anhidrosis · hereditary sensory and autonomic neuropathy caused by mutation in NTRK1 · hereditary sensory and autonomic neuropathy type IV · insensitivity to pain, congenital, with anhidrosis
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — NTRK1
- LiteraturePresent
572 matched papers (299 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 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 (NTRK1).
GenCC classification: Definitive.
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?
572
572 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=5449) is 41.
572 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).
299 in the last 10 years · medium confidence · 84.7th percentile (publications denominator)
Phrase hits: 572 · MeSH hits: 0
Who's working on it?
995
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.
- 01Zhang X9 papers · 2022
Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address: ourpain@163.com.
Papers in Europe PMC - 02
- 03Liu Y6 papers · 2021
The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi 214000, Jiangsu Province, China.
Papers in Europe PMC - 04Guo S5 papers · 2019
Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 05Li N5 papers · 2022
Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jie-Fang Road, Wuhan, 430030, China.
Papers in Europe PMC - 06Chen J4 papers · 2026
Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P. R. China.
Papers in Europe PMC - 07Duan G4 papers · 2022
Department of Anesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 08Guan Y4 papers · 2024
Department of Oncology, Qujing First People's Hospital/The Qujing Affiliated Hospital of Kunming Medical University, Qujing, 655000, China.
Papers in Europe PMC - 09Li L4 papers · 2024
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.
Papers in Europe PMC - 10Li S4 papers · 2026
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and School of Basic Medicine, Peking Union Medical College, Beijing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 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 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06528691·RECRUITING·Entrectinib as a Single Agent in Upfront Therapy for Children <3 Years of Age With NTRK1/2/3 or ROS1-FUSED CNS Tumors
Conditions: High Grade Glioma · CNS Tumor·Matched via name phrase
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.
Observational and natural-history studies
3 observational studies match 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
- NCT07122882·ENROLLING BY INVITATION·Integrated Genomics in Oncogene-driven NSCLC With Acquired Resistance
Conditions: Oncogene-addicted Non Small Cell Lung Cancer · EGFR Mutation · ALK Fusion-positive Solid or CNS Tumors · ROS1 Fusion Positive·Matched via name phrase
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 on the overview but are not added to the query string.
"Hereditary sensory and autonomic neuropathy type 4" OR "Congenital insensitivity to pain with anhidrosis" OR "HSAN4" OR "Hereditary sensory and autonomic neuropathy type IV" OR "NTRK1 hereditary sensory and autonomic neuropathy" OR "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" OR "insensitivity to pain, congenital, with anhidrosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 4" OR "Congenital insensitivity to pain with anhidrosis" OR "HSAN4" OR "Hereditary sensory and autonomic neuropathy type IV" OR "NTRK1 hereditary sensory and autonomic neuropathy" OR "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" OR "insensitivity to pain, congenital, with anhidrosis" OR "NTRK1"
Recall-expansion terms: NTRK1
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: 4 interventional · 3 observational · 1 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary sensory and autonomic neuropathy"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CIPA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:42:20.653Z