Heavy Chain Disease (definition)

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Heavy Chain Disease

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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.

specify the immunoglobulin fragment coord NIM, as gamma chain dis
See Also Immunoglobulin Heavy Chains
Examples Immunoproliferative Small Intestinal Disease

Other names mu-Chain Disease; gamma-Chain Disease; Franklin Disease; mu-Chain Diseases; mu Chain Disease; gamma-Chain Diseases; gamma Chain Disease; Heavy Chain Diseases; Franklins Disease; Franklin's Disease

Substance	Categories	Source
RIV immunoglobulin variant protein, human	Heavy Chain Disease Immunoglobulin gamma-Chains.
CHA heavy chain disease protein, human	Heavy Chain Disease Immunoglobulin gamma-Chains.
Wis heavy-chain disease protein, human	Heavy Chain Disease Immunoglobulin gamma-Chains *Myeloma Proteins.
FOR heavy chain disease protein, human	Heavy Chain Disease Immunoglobulin gamma-Chains.
BOT heavy chain disease protein, human	Heavy Chain Disease Immunoglobulin gamma-Chains.	Hoppe Seylers Z Physiol Chem 1984;365(1):105
heavy chain disease proteins, human	Heavy Chain Disease Immunoglobulin gamma-Chains Myeloma Proteins Paraproteins.	Biochemistry 1980;19(18):4304; Mol Immunol 1981;18(5):379

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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