ORPHA:88642
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Also known as: SCN9A-related congenital insensitivity to pain
Publications
18
30.9th percentile
Trials
8
Interventional, condition-specific
Researchers
169
Distinct authors in sample
Gene link
SCN9A, TRPV1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic peripheral characterized by complete insensitivity to painful stimuli, commonly associated with neuropathic arthropathy. In addition, patients are typically anosmic.
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:0009459
- OMIM:243000
- UMLS:C1855739
- NCIT:C125386
Additional Mondo synonyms (5)
HSAN2D · autosomal recessive hereditary sensory neuropathy type IID · channelopathy-associated CIP · congenital insensitivity to pain with anosmia and neuropathic arthropathy · indifference to pain, congenital, autosomal recessive
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
Strong — SCN9A, TRPV1
- LiteraturePresent
18 matched papers (13 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
8 matched on ClinicalTrials.gov
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 (SCN9A, TRPV1).
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?
18
18 papers have ever been indexed 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.
18 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 18 · MeSH hits: 0
Who's working on it?
169
Distinct author names in 18 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.
- 01Du H2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 02Fatih JM2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 03Gibbs RA2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 04Jhangiani SN2 papers · 2022
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 05Lupski JR2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 06Marafi D2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 07Mitani T2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 08Pehlivan D2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 09Posey JE2 papers · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 10Abdel-Hamid MS1 paper · 2022
Department of Medical Molecular Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
8
interventional trials for this specific condition
8 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1 trial are registered for congenital insensitivity to pain, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).
high confidence · 90.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
8 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: congenital insensitivity to pain
1
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
5 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
- NCT07532200·RECRUITING·SCN9A Gene Expression and Inflammatory Cytokines
Conditions: Pulpitis - Irreversible·Matched via recall expansion
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.
"Congenital insensitivity to pain-anosmia-neuropathic arthropathy" OR "SCN9A-related congenital insensitivity to pain" OR "HSAN2D" OR "autosomal recessive hereditary sensory neuropathy type IID" OR "channelopathy-associated CIP" OR "congenital insensitivity to pain with anosmia and neuropathic arthropathy" OR "indifference to pain, congenital, autosomal recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital insensitivity to pain-anosmia-neuropathic arthropathy" OR "SCN9A-related congenital insensitivity to pain" OR "HSAN2D" OR "autosomal recessive hereditary sensory neuropathy type IID" OR "channelopathy-associated CIP" OR "congenital insensitivity to pain with anosmia and neuropathic arthropathy" OR "indifference to pain, congenital, autosomal recessive" OR "SCN9A" OR "TRPV1"
Recall-expansion terms: SCN9A, TRPV1
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 8 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital insensitivity to pain"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-27T03:24:22.450Z