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long QT syndrome 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

long QT syndrome 11

MONDO:0012738

Also known as:AKAP9 long QT syndromeLQT11long QT syndrome caused by mutation in AKAP9

Overview

Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene.

GeneticsAutosomal dominant · AKAP9 (chr 7)

Clinical Presentation

Features include always present findings: Prolonged QTc interval and Syncope.

Explore clinical features

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.

AKAP9 encodes A-kinase anchoring protein 9 (3,907 aa). Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus. Highest expression in Ovary (25.2 TPM) and Brain Cerebellum (22.2 TPM).

Long QT syndrome 11 is associated with mutations in the AKAP9 gene on chromosome 7.

The AKAP9 protein participates in AKAP9(1-1118)-p-BRAF(381-766) fusion and AKAP9(1-1118)-BRAF(381-766) fusion pathways.

AKAP9 is classified as a druggable target (Clinically Actionable and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for AKAP9 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

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 long QT syndrome 11.

37 publications have been identified in PubMed for long QT syndrome 11. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (27%), and Case Report / Case Series (24%).

Research Type	Count	% of Total
Disease patterns and progression	13	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611820

GARD

Genetic and Rare Diseases Info Center

GARD:10437

Questions for Your Care Team

→Should I pursue genetic testing for AKAP9, 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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long QT syndrome 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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