Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

atrial standstill 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atrial standstill 2

MONDO:0014329

Also known as:NPPA atrial standstillatrial standstill caused by mutation in NPPAatrial standstill type 2

Overview

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

GeneticsAutosomal recessive · 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: Stroke, Bradycardia, Atrial standstill, and Atrial arrhythmia and 9 more.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Stroke, Bradycardia, Atrial standstill
Brain and nerves

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 standstill 2 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.

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 standstill 2.

11 publications have been identified in PubMed for atrial standstill 2. Research spans Case Report / Case Series (64%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (9%).

Research Type	Count	% of Total
Patient case studies	7	64%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615745

GARD

Genetic and Rare Diseases Info Center

GARD:18612

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?

← Back to All Diseases

Kisho

atrial standstill 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

atrial standstill 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

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