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congenital insensitivity to pain-hypohidrosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital insensitivity to pain-hypohidrosis syndrome

MONDO:0014662

Also known as:CIP-hypohidrosis syndromeHSAN8hereditary sensory and autonomic neuropathy type 8

Overview

A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.

GeneticsAutosomal recessive · PRDM12 (chr 9)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Impaired temperature sensation and Pain insensitivity; and very common findings: Recurrent skin infections. 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Hyporeflexia, Intellectual disability

Genetic Landscape

PRDM12 function has not been fully characterized.

Congenital insensitivity to pain-hypohidrosis syndrome is associated with mutations in the PRDM12 gene on chromosome 9.

Diagnosis

Genetic testing for PRDM12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature, 4 common features.

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-hypohidrosis syndrome.

152 publications have been identified in PubMed for congenital insensitivity to pain-hypohidrosis syndrome. Kisho has analyzed 27 by research type. Research spans Case Report / Case Series (52%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (7%).

Research Type	Count	% of Total
Patient case studies	14	52%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616488

Orphanet

European rare disease database

Orphanet:478664

GARD

Genetic and Rare Diseases Info Center

GARD:17866

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital insensitivity to pain-hypohidrosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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congenital insensitivity to pain-hypohidrosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications