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Descriptor English: Heavy Chain Disease
Descriptor Spanish: Enfermedad de las Cadenas Pesadas
Descriptor enfermedad de las cadenas pesadas
Entry term(s) enfermedad de Franklin
enfermedad de cadena gamma
enfermedad de cadena mu
Scope note: Trastorno en la síntesis de inmunoglobulinas en el que se excreta por via urinaria grandes cantidades de cadenas pesadas anormales. La secuencia de aminoácidos de las regiones N-(amino-) terminal de estas cadenas son normales, pero tienen una porción eliminada que se extiende desde parte del dominio variable a través del primer dominio de la región constante, de manera que no pueden formar enlaces cruzados con las cadenas ligeras. El defecto surge por la falta de acoplamiento de las regiones variable (V) y constante (C) de los genes.
Descriptor Portuguese: Doença das Cadeias Pesadas
Descriptor French: Maladie des chaines lourdes
Entry term(s): Franklin Disease
Franklin's Disease
Franklins Disease
Heavy Chain Diseases
gamma Chain Disease
gamma-Chain Disease
gamma-Chain Diseases
mu Chain Disease
mu-Chain Disease
mu-Chain Diseases
Tree number(s): C15.378.147.780.490
C15.604.515.435
C20.683.780.490
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D006362
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.
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
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 66
History Note: 66(64)
Entry Version: HEAVY CHAIN DIS
Related: Immunoglobulin Heavy Chains MeSH
DeCS ID: 6512
Unique ID: D006362
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2005/07/01
Heavy Chain Disease - Preferred
Concept UI M0009991
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.
Preferred term Heavy Chain Disease
Entry term(s) Heavy Chain Diseases
mu-Chain Disease - Narrower
Concept UI M0009993
Preferred term mu-Chain Disease
Entry term(s) mu Chain Disease
mu-Chain Diseases
gamma-Chain Disease - Related but not broader or narrower
Concept UI M0009992
Preferred term gamma-Chain Disease
Entry term(s) Franklin Disease
Franklin's Disease
Franklins Disease
gamma Chain Disease
gamma-Chain Diseases



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