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The following is a list of pathologies1 that are often hereditary and which are advised to investigate their presence in the family medical history.

NOTE: The list of pathologies described may not be exhaustive.

Metabolopathies

  • Suprarenal hyperplasia
  • Adrenoleukodystrophy
  • Autoimmune polyglandular syndrome
  • Breast cancer
  • Ovarian cancer
  • Cockayne’s Syndrome
  • Diabetes mellitus, type 1
  • Diastrophic dysplasia
  • Multiple endocrine neoplasia
  • Pendred syndrome
  • Adrenoleukodystrophy
  • Diabetes mellitus, type 1
  • Gaucher disease
  • Glucose-galactose malabsorption
  • Hemochromatosis
  • Lesch-Nyhan syndrome
  • Menkes Syndrome
  • Niemann-Pick disease
  • Obesity
  • Pancreatic cancer
  • Phenylketonuria
  • Prader-Willi syndrome
  • Porphyria
  • Refsum Disease
  • Tangier disease
  • Tay-Sachs disease
  • Wilson’s disease
  • Zellweger syndrome