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Neuropathy with IgM binding to Myelin-Associated Glycoprotein (MAG)

Autosomal RecessiveImmune/AntibodyOMIM 605566
W
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Overview

From WUSTL Neuromuscular

Epidemiology Prevalence: 0.28 to 0.42 per 100,000 Prevalence vs CIDP: 15% Male predominance: 1.5x to 3.6x Genetics MAG neuropathy: Hematologic cells 71 MYD88L265P variant Frequency: 60% to 73% of IgM MAG No association with clinical features Waldenström Frequency: 90% May predict treatment response to ibrutinib Marginal zone lymphomas: Rare CXCR4S338X variant IgM MAG neuropathy: Not present IgM MGUS: 16% to 35% Waldenström: 43% MAG mutations MAG protein Glycoprotein (100 KDa) N-linked glycosylation sites (8) scattered along extracellular region N-linked glycans: Provide hydrophilic groups impo

OMIM Entries

OMIM #605566OMIM #162010OMIM #116930

Related Conditions

Shared genes
Antibodies vs Glycolipids & Glycoproteins
GM1MAGGQ1B
Axonal Sensory Neuropathies with Serum IgM binding to Trisulfated Heparin Disaccharide (TS-HDS)
HDSDISACCHARIDEMAG
CHRONIC IMMUNE POLYNEUROPATHIES: AXONAL
HDS
I. Clinical Indications for Measurement of anti-MAG antibodies
MAG
II. Results with Specificity and Sensitivity for Sensory-Motor Neuropathies
MAG
III. Testing Laboratory Standards for anti-MAG Antibodies.
MAG
IV. Interpretations of Confirmed Positive anti-MAG Results
MAG
IV. Positive Result: Clinical Utility and Interpretations
MAG

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.