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atrial fibrillation, familial, 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial fibrillation, familial, 6

MONDO:0012816

Also known as:NPPA familial atrial fibrillationatrial fibrillation, familial, type 6familial atrial fibrillation caused by mutation in NPPA

Overview

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

GeneticsAutosomal dominant · NPPA (chr 1)

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: Left atrial enlargement and Elevated left ventricular end-diastolic diameter. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Left atrial enlargement, Atrial fibrillation, Thickened left heart wall (left ventricular hypertrophy)

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.

NPPA encodes natriuretic peptide A (151 aa). Hormone that plays a key role in mediating cardio-renal homeostasis, and is involved in vascular remodeling and regulating energy metabolism. Highest expression in Heart Atrial Appendage (28,754 TPM) and Heart Left Ventricle (35.8 TPM).

Atrial fibrillation, familial, 6 is associated with mutations in the NPPA gene on chromosome 1.

The NPPA protein participates in Expression of NPPA (ANF) and CORIN(802-1042) hydrolyses NPPA to form NPPA(124-151) pathways.

NPPA is classified as a druggable target (Druggable Genome and Hormone Activity categories) with score 26.1.

Diagnosis

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

Biomarker and diagnostic research for atrial fibrillation, familial, 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 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, 6.

292 publications have been identified in PubMed for atrial fibrillation, familial, 6. Research spans Clinical Trial Publication (39%), Epidemiology / Natural History (27%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Clinical study results	104	39%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612201

GARD

Genetic and Rare Diseases Info Center

GARD:15544

Questions for Your Care Team

→Should I pursue genetic testing for NPPA, 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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Kisho

atrial fibrillation, familial, 6

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

atrial fibrillation, familial, 6

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