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febrile seizures, familial, 11 (FEB11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

febrile seizures, familial, 11

MONDO:0024566

Also known as:FEB11convulsions, familial febrile, 11

Overview

GeneticsAutosomal recessive · CPA6 (chr 8)

OnsetADULT

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: Febrile seizure (within the age range of 3 months to 6 years); and sometimes findings: Focal impaired awareness seizure and Hippocampal atrophy. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CPA6 encodes carboxypeptidase A6 (437 aa). May be involved in the proteolytic inactivation of enkephalins and neurotensin in some brain areas. May convert inactive angiotensin I into the biologically active angiotensin II. Highest expression in Prostate (5.0 TPM) and Vagina (3.6 TPM).

Febrile seizures, familial, 11 is associated with mutations in the CPA6 gene on chromosome 8.

CPA6 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 2.5.

Diagnosis

Genetic testing for CPA6 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 febrile seizures, familial, 11.

24 publications have been identified in PubMed for febrile seizures, familial, 11. Research spans Epidemiology / Natural History (71%), Basic Science / Preclinical (13%), and Case Report / Case Series (8%).

Research Type	Count	% of Total
Disease patterns and progression	17	71%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614418

GARD

Genetic and Rare Diseases Info Center

GARD:18283

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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Kisho

febrile seizures, familial, 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

febrile seizures, familial, 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications