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

Rare Disease

congenital insensitivity to pain syndrome, Marsili type

MONDO:0958106

Also known as:MARSILI syndromeMARSIScongenital analgesia, autosomal dominant

Overview

A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.

GeneticsAutosomal dominant · ZFHX2 (chr 14)

OnsetINFANTILE

ResearchLimited published research (1 article)

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: Pain insensitivity, Decreased corneal reflex, and Impaired temperature sensation; and very common findings: Recurrent fever. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	2	Decreased corneal reflex, Corneal scarring

Genetic Landscape

ZFHX2 function has not been fully characterized.

Congenital insensitivity to pain syndrome, Marsili type is associated with mutations in the ZFHX2 gene on chromosome 14.

Diagnosis

Genetic testing for ZFHX2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature.

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 syndrome, Marsili type.

1 publication has been identified in PubMed for congenital insensitivity to pain syndrome, Marsili type. Research spans Other (100%).

Recent Publications

Passaponti S (2026). [PMID: 42035588](https://pubmed.ncbi.nlm.nih.gov/42035588/). *Clin Neurophysiol*. [Other]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:147430

Orphanet

European rare disease database

Orphanet:653728

Questions for Your Care Team

→Should I pursue genetic testing for ZFHX2, and what would the results mean for my family?
→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 syndrome, Marsili type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

Questions for Your Care Team

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