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neutropenia-monocytopenia-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neutropenia-monocytopenia-deafness syndrome

MONDO:0017100

Overview

Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections.

Diagnosis

Biomarker and diagnostic research for neutropenia-monocytopenia-deafness syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 neutropenia-monocytopenia-deafness syndrome.

202 publications have been identified in PubMed for neutropenia-monocytopenia-deafness syndrome. Kisho has analyzed 158 by research type. Research spans Review / Meta-Analysis (64%), Basic Science / Preclinical (11%), and Case Report / Case Series (9%).

Research Type	Count	% of Total
Research summaries	101	64%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2690

GARD

Genetic and Rare Diseases Info Center

GARD:3982

Questions for Your Care Team

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neutropenia-monocytopenia-deafness syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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