ORPHA:64752
Hereditary sensory and autonomic neuropathy type 5
Also known as: CIP · Congenital insensitivity to pain and thermal analgesia · HSAN5 · Hereditary sensory and autonomic neuropathy type V
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
142
62.7th percentile
Trials
0
Interventional, condition-specific
Researchers
905
Distinct authors in sample
Gene link
NGF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare sensory characterized by selective or generalized loss of pain perception and impaired temperature sensitivity, in the absence of other abnormal neurological function. Patients present with variable severity of insensibility to pain and temperature. Self-mutilation of the lips, tongue, and fingers, painless injuries resulting in cuts, bruises, fractures, destroyed joints (Charcot joints) mostly in the knees and and feet are frequentyly observed. Patients have normal motor and sensory nerve conduction. Nerve biopsy typically manifest with reduced/absent small myelinated fibers whereas unmyelinated fibers are usually not affected. Episodic increase in body temperature, skin blotching, decreased sweating, poor wound healing, infections in teeth, joints and bone, neurotrophic keratitis, prematurely aged appearance, with malar hypoplasia, sunken eyes are reported in few patients. Mild may also be present.
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:0012092
- OMIM:608654
- UMLS:C0020075
Additional Mondo synonyms (4)
NGF autosomal recessive hereditary sensory and autonomic neuropathy · autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF · congenital insensitivity to pain and thermal analgesia · hereditary sensory and autonomic neuropathy type V
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — NGF
- LiteraturePresent
142 matched papers (80 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 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 (NGF).
GenCC classification: Strong.
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?
142
142 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=5449) is 41.
142 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).
80 in the last 10 years · medium confidence · 62.7th percentile (publications denominator)
Phrase hits: 142 · MeSH hits: 0
Who's working on it?
905
Distinct author names in 142 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.
- 01Capsoni S13 papers · 2022
Neurobiology Laboratory of Biology, Scuola Normale Superiore, Pisa, Italy.
Papers in Europe PMC - 02Cattaneo A13 papers · 2023
Neurotrophic Factors and Neurodegenerative Diseases Unit, European Brain Research Institute, "Rita Levi-Montalcini" Foundation, Rome, Italy; Neurobiology Laboratory of Biology, Scuola Normale Superiore, Pisa, Italy.
Papers in Europe PMC - 03Woods CG7 papers · 2024
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
Papers in Europe PMC - 04Yang W7 papers · 2025
Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA; Department of Neurology, Zhuijiang Hospital, Southern Medical University, Guangzhou, China.
Papers in Europe PMC - 05Sung K6 papers · 2020
Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.
Papers in Europe PMC - 06Wu C6 papers · 2020
Department of Neurosciences, University of California San Diego, La Jolla, CA, USA. Electronic address: chw049@ucsd.edu.
Papers in Europe PMC - 07Malerba F5 papers · 2019
Neurotrophic Factors and Neurodegenerative Diseases Unit, European Brain Research Institute, "Rita Levi-Montalcini" Foundation, Rome, Italy; Neurobiology Laboratory of Biology, Scuola Normale Superiore, Pisa, Italy.
Papers in Europe PMC - 08Minde J5 papers · 2020
Department of Orthopedics, Gällivare Hospital, Gällivare, Sweden.
Papers in Europe PMC - 09Olausson H5 papers · 2020
Specialist Palliative Care Team, University Hospital Aintree, Liverpool, United Kingdom.
Papers in Europe PMC - 10Cox JJ4 papers · 2024
Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London, WC1E 6BT, UK.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 5" OR "Congenital insensitivity to pain and thermal analgesia" OR "HSAN5" OR "Hereditary sensory and autonomic neuropathy type V" OR "NGF autosomal recessive hereditary sensory and autonomic neuropathy" OR "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy type 5" OR "Congenital insensitivity to pain and thermal analgesia" OR "HSAN5" OR "Hereditary sensory and autonomic neuropathy type V" OR "NGF autosomal recessive hereditary sensory and autonomic neuropathy" OR "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" OR "NGF"
Recall-expansion terms: NGF
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: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CIP
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 2026-07-27T01:13:47.431Z