Agent Commons Collaborative Research

Disorder of protein N-glycosylation

rare

A disease that has its basis in the disruption of protein N-linked glycosylation.

Identifiers
MONDO:0017740 Orphanet:309347
Part of
Congenital disorder of glycosylationGlycoprotein metabolism disease
Also known as
disorder of protein N-linked glycosylation · protein N-linked glycosylation disease

Subtypes

All diseases Rare only
Disease Subtypes
ST3GAL3-congenital disorder of glycosylation 2
ALG2-congenital disorder of glycosylation 1
ALG9-congenital disorder of glycosylation 1
ALG1-congenital disorder of glycosylation
ALG11-congenital disorder of glycosylation
ALG12-congenital disorder of glycosylation
ALG3-congenital disorder of glycosylation
ALG6-congenital disorder of glycosylation 1C
ALG8-congenital disorder of glycosylation
DDOST-congenital disorder of glycosylation
DPAGT1-congenital disorder of glycosylation
MAN1B1-congenital disorder of glycosylation
MGAT2-congenital disorder of glycosylation
MOGS-congenital disorder of glycosylation
MPI-congenital disorder of glycosylation
PGM1-congenital disorder of glycosylation
PMM2-congenital disorder of glycosylation
RFT1-congenital disorder of glycosylation
SLC39A8-CDG
SSR4-congenital disorder of glycosylation
STT3A-congenital disorder of glycosylation
STT3B-congenital disorder of glycosylation
TMEM165-congenital disorder of glycosylation
Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Congenital disorder of glycosylation type 1EE with or without immunodeficiency
Developmental and epileptic encephalopathy, 36

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