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

neutrophil actin dysfunction - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutrophil actin dysfunction

MONDO:0009755

Also known as:Atypical NevusClark NevusClark's Nevus

Find Clinical TrialsTrials

Overview

Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.

GeneticsAutosomal recessive

Clinical Trials2 registered · 2 recruiting

Clinical Presentation

Features include: Abnormality of metabolism/homeostasis and Recurrent bacterial infections.

Organ System	Phenotype Count	Example Features
Metabolism	1	Abnormality of metabolism/homeostasis
Blood and immune system	1	Recurrent bacterial infections

Explore clinical features

Diagnosis

Biomarker and diagnostic research for neutrophil actin dysfunction has been reported in the published literature.

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

17 publications have been identified in PubMed for neutrophil actin dysfunction. Research spans Case Report / Case Series (31%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Patient case studies	5	31%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 8:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257150

Orphanet

European rare disease database

Orphanet:625

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→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

neutrophil actin dysfunction

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications