Concept information
Preferred term
Heavy Chain Disease
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- gamma Chain Disease
- gamma-Chain Disease
- gamma-Chain Diseases
- mu Chain Disease
- mu-Chain Disease
- mu-Chain Diseases
Note
- specify the immunoglobulin fragment coord NIM, as gamma chain dis = HEAVY CHAIN DISEASE (IM) + IMMUNOGLOBULIN GAMMA-CHAINS (NIM); ALPHA-CHAIN DISEASE see IMMUNOPROLIFERATIVE SMALL INTESTINAL DISEASE is available
Scope note
- 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.
History note
- 66(64)
In other languages
-
Finnish
-
Franklin
-
Franklinin tauti
-
Franklins sjukdom
-
gamma heavy chain disease
-
gammaraskasketjutauti
-
morbus cum catenis gravibus gamma
-
morbus Franklin
-
Swedish
URI
http://www.yso.fi/onto/mesh/D006362
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}