2.1.d

Disorders of glycerolipid metabolism

  • Lysophosphatidic acid acyltransferase deficiency (Congenital generalized lipodystrophy type 1, Berardinelli-Seip syndrome)
  • Lipin 1 deficiency
  • Lipin 2 deficiency (Majeed syndrome)
  • Diacylglycerol acyltransferase deficiency (Congenital diarrhea type 7)
  • CGI-58 deficiency (Chanarin-Dorfman syndrome; neutral lipid storage disease with ichthyosis)
  • Adipose triglyceride lipase deficiency (Neutral lipid storage disease with myopathy)
  • Perilipin 1 deficiency (Familial partial lipodystrophy type 4)
  • Perilipin 5 deficiency
  • Hormone-sensitive lipase deficiency (Familial partial lipodystrophy type 6)
  • Seipin deficiency (Congenital generalized lipodystrophy type 2; progressive encephalopathy with or without lipodystrophy – Celia’s encephalopathy)
  • Seipin superactivity (Silver syndrome – spastic paraplegia 17; distal hereditary motor neuropathy type 5)

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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