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Menkes disease

Disease definition

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

ORPHA:565

  • Synonym(s):
    • Kinky hair disease
    • Kinky hair syndrome
    • MD
    • MK
    • MNK
    • Menkes syndrome
    • Steely hair disease
    • Steely hair syndrome
    • Trichopoliodystrophy
    • X-linked copper deficiency
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal
  • ICD-10: E83.0
  • OMIM: 309400
  • UMLS: C0022716
  • MeSH: -
  • GARD: 1521
  • MedDRA: 10027294

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