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Medical terminology · Immunology & Rheumatology

Heavy Chain Disease

MeSH — National Library of Medicine · Retrieved 2026-10-13

A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and cons

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Reference details

MeSH descriptor
D006362
Vocabulary edition
2026
Tree positions
C15.378.147.780.490; C15.604.515.435; C20.683.780.490

Scope and definition

A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.

Entry terms and synonyms

Heavy Chain Disease Heavy Chain Diseases gamma-Chain Disease gamma Chain Disease gamma-Chain Diseases Franklin Disease Franklin's Disease Franklins Disease mu-Chain Disease mu Chain Disease mu-Chain Diseases

Classification tree positions

C15.378.147.780.490 C15.604.515.435 C20.683.780.490

Sources and reuse

Medical vocabulary definition and classification record.
Retrieved: 2026-10-13. Text has been organized for reading; this import has not been independently reviewed by a clinician. It is not individualized medical advice.
Courtesy of the U.S. National Library of Medicine. DrugChat is independent and is not endorsed by NLM.

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