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
8,694
Trials
0
Interventional, condition-specific
Researchers
995
Distinct authors in sample
Gene link
NTRK1
Definitive
Readiness
5/6
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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — NTRK1
- LiteraturePresent
8,694 matched papers (7,215 in last 10 years) Source
- Phenotype characterisedPresent
82 HPO annotations (e.g. Recurrent Staphylococcus aureus infection; Osteomyelitis; Pain insensitivity) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- 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 (NTRK1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
82
Associated phenotypes · MONDO:0009746
- Recurrent Staphylococcus aureus infection
- Osteomyelitis
- Pain insensitivity
- Aplasia of the sweat glands
- Dry skin
Showing 5 of 82 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Ntrk1tm1.1(NTRK1*)Cat/Ntrk1+ [background:] involves: 129S1/Sv * 129X1/SvJ * BALB/cJ·MGI:8233859·Mus musculus
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
8,694
8,694 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
8,694 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).
7,215 in the last 10 years · low confidence
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?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 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?
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 2026-07-29
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 Hereditary sensory and autonomic neuropathy type 4 — 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 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" OR "NTRK1 syndrome" OR "NTRK1-related")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"
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
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
- Publication count (8694) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T14:42:20.653Z