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macroglobulinemia, Waldenstrom, 1 (WM1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macroglobulinemia, Waldenstrom, 1

MONDO:0100281

Also known as:WM1macroglobulinemia, Waldenstrom, somaticmacroglobulinemia, waldenstrom, susceptibility to, 1

Overview

GeneticsMultifactorial · MYD88 (chr 3)

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 sometimes findings: Leukemia and Lymphoma. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM
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.

MYD88 encodes MYD88 innate immune signal transduction adaptor (296 aa). Adapter protein involved in the Toll-like receptor and IL-1 receptor signaling pathway in the innate immune response. Highest expression in Whole Blood (199.5 TPM) and Spleen (107.1 TPM).

Macroglobulinemia, Waldenstrom, 1 is associated with mutations in the MYD88 gene on chromosome 3.

MYD88 is classified as a druggable target (Cell Surface, Clinically Actionable, and Serine Threonine Kinase categories) with score 4.4.

Diagnosis

Genetic testing for MYD88 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for macroglobulinemia, Waldenstrom, 1 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.

No clinical trials have been registered for macroglobulinemia, Waldenstrom, 1.

155 publications have been identified in PubMed for macroglobulinemia, Waldenstrom, 1. Research spans Case Report / Case Series (28%), Clinical Trial Publication (22%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Patient case studies	44	28%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:153600

Questions for Your Care Team

→Should I pursue genetic testing for MYD88, 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

macroglobulinemia, Waldenstrom, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

macroglobulinemia, Waldenstrom, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications