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congenital insensitivity to pain with severe intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital insensitivity to pain with severe intellectual disability

MONDO:0018682

Also known as:congenital absence of pain with severe intellectual disabilitycongenital analgesia with severe intellectual disabilitycongenital insensitivity to pain with preserved temperature sensation

Overview

ResearchLimited published research (4 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital insensitivity to pain with severe intellectual disability.

4 publications have been identified in PubMed for congenital insensitivity to pain with severe intellectual disability. Research spans Case Report / Case Series (75%) and Review / Meta-Analysis (25%).

Recent Publications

Sierra-Rivera A (2026). [PMID: 41400424](https://pubmed.ncbi.nlm.nih.gov/41400424/). *Laboratory medicine*. [Case Report / Case Series]
Munir A (2025). [PMID: 41253761](https://pubmed.ncbi.nlm.nih.gov/41253761/). *Human genome variation*. [Case Report / Case Series]
Temur KT (2025). [PMID: 41257813](https://pubmed.ncbi.nlm.nih.gov/41257813/). *BMC oral health*. [Case Report / Case Series]
Rodríguez-Blanque R (2024). [PMID: 38929791](https://pubmed.ncbi.nlm.nih.gov/38929791/). *Journal of personalized medicine*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:453510

GARD

Genetic and Rare Diseases Info Center

GARD:21890

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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congenital insensitivity to pain with severe intellectual disability

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team