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Descriptor English: Congenital Disorders of Glycosylation
Descriptor Spanish: Trastornos Congénitos de Glicosilación
Descriptor trastornos congénitos de la glicosilación
Entry term(s) síndrome de glicoproteína con deficiencia de carbohidrato
síndrome de glicoproteína deficiente en carbohidrato
síndrome de glicoproteínas deficientes en carbohidrato
síndrome de glucoproteínas con deficiencia de carbohidratos
Scope note: Alteración congénita del metabolismo de los carbohidratos que se manifiesta como un trastorno genético multisistémico con transmisión autosómica recesiva. Una característica predominante es la afectación grave del sistema nervioso central y periférico, lo que produce retraso psicomotor, convulsiones, ataxia cerebelosa, y otros síntomas que incluyen retraso del crecimiento, retinitis pigmentaria, hipotiroidismo, e hígado graso. La característica bioquímica más notable es el déficit de gran número de glucoproteínas sanguíneas y la disminución de la actividad de diversos factores de la coagulación sanguínea.
Descriptor Portuguese: Defeitos Congênitos da Glicosilação
Descriptor French: Troubles congénitaux de la glycosylation
Entry term(s): Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndromes
Glycoprotein Syndrome, Carbohydrate-Deficient
Syndrome, Carbohydrate-Deficient Glycoprotein
Syndromes, Carbohydrate-Deficient Glycoprotein
Tree number(s): C16.320.565.202.125
C18.452.648.202.125
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D018981
Scope note: A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
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
Previous Indexing: Carbohydrate Metabolism, Inborn Errors (1991-1995)
Glycoproteins (1977-1995)
Public MeSH Note: 2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)
History Note: 2011(1996)
DeCS ID: 32819
Unique ID: D018981
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1996/01/01
Date of Entry: 1995/05/24
Revision Date: 2010/06/25
Congenital Disorders of Glycosylation - Preferred
Concept UI M0028352
Scope note A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.
Preferred term Congenital Disorders of Glycosylation
Entry term(s) Carbohydrate Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndrome
Carbohydrate-Deficient Glycoprotein Syndromes
Glycoprotein Syndrome, Carbohydrate-Deficient
Syndrome, Carbohydrate-Deficient Glycoprotein
Syndromes, Carbohydrate-Deficient Glycoprotein



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