5.2.a

Disorders of copper metabolism

  • Copper-transporting ATPase subunit beta deficiency (Wilson disease; hepatolenticular degeneration)
  • Copper-transporting ATPase subunit alpha deficiency (Menkes disease, severe; occipital horn syndrome (milder)
  • X-linked distal spinal muscular atrophy type 3
  • MEDNIK syndrome
  • MEDNIK-like syndrome
  • Acetyl-CoA transporter deficiency (Huppke-Brendel syndrome; congenital cataracts, hearing loss, and neurodegeneration)
  • Deficiency of copper chaperone for superoxide dismutase

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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