2.1.g

Disorders of sterol biosynthesis

  • Mevalonate kinase deficiency (Mevalonic aciduria, severe; hyper-IgD syndrome, milder)
  • Mevalonate kinase deficiency, porokeratosis phenotype (Porokeratosis type 3)
  • Phosphomevalonate kinase deficiency (Porokeratosis type 1)
  • Mevalonate pyrophosphate decarboxylase deficiency (Porokeratosis type 7)
  • Farnesyl diphosphate synthase deficiency (Porokeratosis type 9)
  • Geranylgeranyl pyrophosphate synthase deficiency (Atypical femoral fractures with bisphosphonates)
  • Squalene synthase deficiency (Farnesyldiphosphate farnesyltransferase 1 deficiency)
  • Lanosterol 14-alpha-demethylase deficiency
  • Lanosterol synthase deficiency (2,3-oxidosqualene-lanosterol cyclase deficiency; cataracts type 44, C-terminal; hypotrichosis simplex, N-terminal)
  • Sterol C14 reductase deficiency (Hydrops-ectopic calcification-moth-eaten dysplasia – HEM dysplasia, Greenberg dysplasia, recessive; Pelger-Huët anomaly, dominant)
  • Sterol-C4-methyl oxidase deficiency (Microcephaly, congenital cataract, and psoriasiform dermatitis)
  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects – CHILD syndrome)
  • CK syndrome
  • Conradi-Hünermann syndrome (X-linked dominant chondrodysplasia punctata type 2; Conradi-Hünermann-Happle syndrome)
  • Male EBP disorder with Neurologic Defects – MEND syndrome
  • Sterol Delta-5-desaturase deficiency (Lathosterolosis)
  • 24-dehydrocholesterol reductase deficiency (Desmosterolosis)
  • 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome; RSH syndrome)

Subnetworks

PD 1 1

PD

Peroxisomal and lipid-related disorders

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