channelopathy-associated congenital insensitivity to pain, autosomal recessive
Findings
No curated finding names channelopathy-associated congenital insensitivity to pain, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
Definition from the Mondo Disease Ontology (MONDO:0009459), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pain insensitivityHPOHP:0007021
- 15 of 15 reported patients
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- 0 of 9 reported patients
- Abnormal nerve conduction velocityHPOHP:0040129
- 0 of 6 reported patients
- Impaired proprioceptionHPOHP:0010831
- 0 of 9 reported patients
- Impaired tactile sensationHPOHP:0010830
- 0 of 9 reported patients
- Impaired temperature sensationHPO
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN9AHGNC:10597
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Semidominant · 2020
- TRPV1HGNC:12716
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
6 names
Resolves to: channelopathy-associated congenital insensitivity to pain, autosomal recessive
- Also called
- autosomal recessive hereditary sensory neuropathy type IIDchannelopathy-associated CIPcongenital insensitivity to pain with anosmia and neuropathic arthropathyHSAN2Dindifference to pain, congenital, autosomal recessiveSCN9A-related congenital insensitivity to pain