The portal for rare diseases and orphan drugs

Rare diseases are rare, but
rare disease patients are numerous

• • 11-beta-hydroxysteroid dehydrogenase deficiency type 1
  • Clinical practice guidelines
    • DE
• • 15q24 microdeletion syndrome
  • Review article
    • EN
• • 17p11.2 microdeletion
  • Practical genetics
    • EN
  • Emergency guidelines
    • FR (pdf,165ko)
• • 18p- syndrome
  • Review article
    • EN
• • 22q11.2 deletion syndrome
  • Clinical practice guidelines
    • ES (pdf,32ko)
  • Guidance for genetic testing
    • EN
• • 22q11DS
  • Clinical practice guidelines
    • ES (pdf,32ko)
  • Guidance for genetic testing
    • EN
• • 22q13 deletion
  • Review article
    • EN
  • Guidance for genetic testing
    • EN
• • 3-hydroxy-3-methylglutaric aciduria
  • Emergency guidelines
    • EN (pdf,18ko)
• • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • Emergency guidelines
    • EN (pdf,18ko)
• • 3-hydroxy 3-methylglutaryl-CoA synthase deficiency
  • Emergency guidelines
    • EN (pdf,20ko)
• • 3-methylcrotonylglycinuria
  • Review article
    • EN (pdf,185ko)
• • 3-methylglutaconic aciduria type 2
  • Review article
    • EN
• • 3M syndrome
  • Guidance for genetic testing
    • EN
• • 3-M syndrome
  • Guidance for genetic testing
    • EN
• • 45,X/46,XX syndrome
  • Review article
    • FR (pdf,535ko)
  • Clinical practice guidelines
    • FR (pdf,579ko)
• • 45,X syndrome
  • Review article
    • FR (pdf,535ko)
  • Clinical practice guidelines
    • FR (pdf,579ko)
• • 46,XY CGD
  • Guidance for genetic testing
    • EN
• • 46,XY complete gonadal dysgenesis
  • Guidance for genetic testing
    • EN
• • 46,XY pure gonadal dysgenesis
  • Guidance for genetic testing
    • EN
• • 47,XXX
  • Review article
    • EN
    • ES (pdf,157ko)
  • Practical genetics
    • EN
• • 4p- syndrome
  • Guidance for genetic testing
    • EN
  • Clinical practice guidelines
    • ES (pdf,27ko)
• • 5-oxoprolinase deficiency
  • Review article
    • EN
• • 5q- syndrome
  • Clinical practice guidelines
    • EN (pdf,127ko)
    • FR (pdf,256ko)
• • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • Review article
    • EN (pdf,77ko)
• • 7-dehydrocholesterol reductase deficiency
  • Practical genetics
    • EN