Congenital disorder of glycosylation

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Congenital disorder of glycosylation with epilepsy as a major feature

ORPHA:371071Category

Also called CDG with epilepsy as a major feature

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ALG1ALG11ALG13ALG2ALG3ALG6ALG9COG4COG7COG8DPAGT1DPM1DPM2FKTNPIGGPIGLPIGMPIGWSLC35A3SLC35C1ST3GAL5

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

ALG11-CDGALG13-CDGALG1-CDGALG2-CDGALG3-CDGALG6-CDGALG9-CDGAutism spectrum disorder-epilepsy-arthrogryposis syndromeCHIME syndromeCOG4-CDGCOG7-CDGCOG8-CDGCongenital muscular dystrophy, Fukuyama typeCongenital muscular dystrophy with intellectual disability and severe epilepsyDPAGT1-CDGDPM1-CDGEarly-onset epilepsy-intellectual disability-brain anomalies syndromeGM3 synthase deficiencyHypercoagulability syndrome due to glycosylphosphatidylinositol deficiencyLeukocyte adhesion deficiency type II

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 18287UMLS C5679904

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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