4.1.d

Disorders of multiple glycosylation pathways

Disorders of dolichol metabolism

  • DHDDS-CDG
  • NUS1-CDG
  • SRD5A3-CDG
  • DOLK-CDG
  • DPM1-CDG
  • DPM2-CDG
  • DPM3-CDG
  • MPDU1-CDG

Disorders of Golgi transport

  • SLC35A1-CDG
  • SLC35A2-CDG (Early infantile epileptic encephalopathy 22)
  • SLC35A3-CDG
  • SLC35C1-CDG
  • SLC35D1-CDG (Schneckenbecken dysplasia; SLC35D1-CDG)

Disorders of Golgi homeostasis

  • ATP6V0A2-CDG (Autosomal recessive cutis laxa type 2A – wrinkly skin syndrome)
  • ATP6V1A-CDG (Autosomal recessive cutis laxa type 2D)
  • ATP6V1E1-CDG (Autosomal recessive cutis laxa type 2C)
  • ATP6AP1-CDG (Immunodeficiency type 47)
  • ATP6AP2-CDG (X-linked intellectual disability, Hedera type)
  • TMEM199-CDG (TMEM199-CDG)
  • CCDC115-CDG
  • VMA21-CDG
  • TMEM165-CDG (TMEM165-CDG)
  • SLC9A7-CDG (Sodium/hydrogen exchanger type 7 deficiency)

Disorders of sialic acid metabolism

  • UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase deficiency (GNE myopathy; Nonaka myopathy)
  • UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase superactivity (Sialuria)
  • N-acetylneuraminic acid-9-phosphate synthase deficiency (NANS-CDG; spondyloepimetaphyseal dysplasia Camera-Genevieve type)
  • N-acetylneuraminate pyruvate lyase deficiency (Sialic acid aldolase deficiency)

Other disorders of multiple glycosylation pathways

  • GFPT1-CDG (Congenital myasthenic syndrome type 12)
  • PGM1-CDG (PGM1-CDG; glycogen storage disease type 14)
  • PGM3-CDG (PGM3-CDG; immunodeficiency type 23)
  • GNPNAT1-CDG
  • GMPPA-CDG (Alacrima, achalasia, and intellectual disability syndrome)
  • GMPPB-CDG (MDDGA14; MDDGB14; MDDGC14)
  • UGDH-CDG (Early infantile epileptic encephalopathy type 84)
  • UGP2-CDG (Early infantile epileptic encephalopathy type 83)

Subnetworks

CDG 1 1

CDG

Congenital disorders of glycosylation and disorders of intracellular trafficking

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