Heavy Chain Disease [nemoc z těžkých řetězců]

topical
8
Terms

Franklinova nemoc
gama HCD
mí HCD
nemoc těžkých řetězců
nemoc z těžkých řetězců gama
nemoc z těžkých řetězců mí
onemocnění těžkých řetězců

 

Franklin Disease
Franklin's Disease
gamma-Chain Disease
mu-Chain Disease

Persistent link   https://www.medvik.cz/link/D006362
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.

Annotation
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
DUI
D006362 MeSH Browser
CUI
M0009991
History note
66(64)
Public note
66

C Diseases
C15.378.147.780 Paraproteinemias 290
C15.378.147.780.243 Cryoglobulinemia 72
C15.378.147.780.490 Heavy Chain Disease 8
C15.378.147.780.650 Multiple Myeloma 1 790
C15.378.147.780.750 POEMS Syndrome 35
C15.378.147.780.838 Smoldering Multiple Myeloma 12
C15.378.147.780.925 Waldenstrom Macroglobulinemia 112
C15.604.515.032 Agammaglobulinemia 114
C15.604.515.245 Castleman Disease 62
C15.604.515.292 Granuloma 236
C15.604.515.435 Heavy Chain Disease 8
C15.604.515.516 Infectious Mononucleosis 191
C15.604.515.553 Leukemia, Hairy Cell 95
C15.604.515.560 Leukemia, Lymphoid 477
C15.604.515.562 Lymphangiomyoma 1
C15.604.515.569 Lymphoma 1 126
C15.604.515.700 Marek Disease 7
C15.604.515.827 Sarcoidosis 501
C15.604.515.841 Sezary Syndrome 43
C15.604.515.880 Tumor Lysis Syndrome 38
C20.683.780 Paraproteinemias 290
C20.683.780.250 Cryoglobulinemia 72
C20.683.780.490 Heavy Chain Disease 8
C20.683.780.650 Multiple Myeloma 1 790
C20.683.780.750 POEMS Syndrome 35

CHA heavy chain disease protein, human Chemical MeSH Browser

FOR heavy chain disease protein, human Chemical MeSH Browser

IGHM protein, human Chemical MeSH Browser

RIV immunoglobulin variant protein, human Chemical MeSH Browser

Wis heavy-chain disease protein, human Chemical MeSH Browser

heavy chain disease proteins, human Chemical MeSH Browser