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atrial fibrillation, familial, 15 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial fibrillation, familial, 15

MONDO:0014340

Also known as:NUP155 familial atrial fibrillationatrial fibrillation 15atrial fibrillation, familial, type 15

Overview

Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene.

GeneticsAutosomal recessive · NUP155 (chr 5)

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: Atrial fibrillation; and common findings: Atrial flutter, Sudden cardiac death, and Supraventricular tachycardia. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Left atrial enlargement, Atrial fibrillation, Atrial flutter

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.

NUP155 encodes nucleoporin 155 (1,391 aa). Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport Highest expression in Testis (56.0 TPM) and Cells EBV-transformed lymphocytes (20.8 TPM).

Atrial fibrillation, familial, 15 is associated with mutations in the NUP155 gene on chromosome 5.

NUP155 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for NUP155 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atrial fibrillation, familial, 15 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 common 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 atrial fibrillation, familial, 15.

277 publications have been identified in PubMed for atrial fibrillation, familial, 15. Research spans Epidemiology / Natural History (38%), Clinical Trial Publication (22%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	94	38%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615770

GARD

Genetic and Rare Diseases Info Center

GARD:16010

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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atrial fibrillation, familial, 15

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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