Congenital Disorders of Glycosylation [vrozené poruchy glykosylace]

topical
30
Terms

glykoproteinový syndrom deficitu sacharidů
kongenitální poruchy glykosylace

 

Carbohydrate-Deficient Glycoprotein Syndrome
Glycoprotein Syndrome, Carbohydrate-Deficient

Persistent link   https://www.medvik.cz/link/D018981
Definition

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

DUI
D018981 MeSH Browser
CUI
M0028352
Previous indexing
Carbohydrate Metabolism, Inborn Errors (1991-1995); Glycoproteins (1977-1995)
History note
2011(1996)
Public note
2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)

C Diseases
C16.320.565.202.303 Fucosidosis 2
C16.320.565.202.355 Galactosemias 44
C16.320.565.202.449 Glycogen Storage Disease 45
C16.320.565.202.460 Hyperoxaluria, Primary 10
C16.320.565.202.589 Lactose Intolerance 132
C16.320.565.202.607 Mannosidase Deficiency Diseases 1
C16.320.565.202.670 Mucolipidoses 10
C16.320.565.202.715 Mucopolysaccharidoses 81
C18.452 Metabolic Diseases 1 200
C18.452.648.202.303 Fucosidosis 2
C18.452.648.202.355 Galactosemias 44
C18.452.648.202.449 Glycogen Storage Disease 45
C18.452.648.202.460 Hyperoxaluria, Primary 10
C18.452.648.202.589 Lactose Intolerance 132
C18.452.648.202.607 Mannosidase Deficiency Diseases 1
C18.452.648.202.670 Mucolipidoses 10
C18.452.648.202.715 Mucopolysaccharidoses 81

Coloboma, Ocular, And Ichthyosis, Brain Malformations, And Endocrine Abnormalities Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type I-IIX Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type IIB Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type IIF Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type IIH Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type IIID Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type Im Disease MeSH Browser

Congenital Disorder Of Glycosylation, Type In Disease MeSH Browser

Congenital Disorder of Glycosylation, Type Io Disease MeSH Browser

Congenital disorder of glycosylation type 1A Disease MeSH Browser

Congenital disorder of glycosylation type 1B Disease MeSH Browser

Congenital disorder of glycosylation type 1C Disease MeSH Browser

Congenital disorder of glycosylation type 1D Disease MeSH Browser

Congenital disorder of glycosylation type 1E Disease MeSH Browser

Congenital disorder of glycosylation type 1F Disease MeSH Browser

Congenital disorder of glycosylation type 1G Disease MeSH Browser

Congenital disorder of glycosylation type 1H Disease MeSH Browser

Congenital disorder of glycosylation type 1I Disease MeSH Browser

Congenital disorder of glycosylation type 1J Disease MeSH Browser

Congenital disorder of glycosylation type 1K Disease MeSH Browser

Congenital disorder of glycosylation type 1L Disease MeSH Browser

Congenital disorder of glycosylation type 1X Disease MeSH Browser

Congenital disorder of glycosylation type 2A Disease MeSH Browser

Congenital disorder of glycosylation type 2D Disease MeSH Browser

Congenital disorder of glycosylation type 2E Disease MeSH Browser

Congenital disorder of glycosylation type II Disease MeSH Browser

Congenital disorder of glycosylation, type 2C Disease MeSH Browser

Congenital disorder of glycosylation, type 2G Disease MeSH Browser

NGLY1 deficiency Disease MeSH Browser