Rare Diseases Symptoms Automatic Extraction

The unique association of iris heterochromia with Hermansky-Pudlak syndrome.

[oculocutaneous albinism]

Melanin biosynthesis is reduced in oculocutaneous albinism, an autosomal recessive disorder. Hermansky-Pudlak syndrome is associated with oculocutaneous albinism but also has systemic complications. The ocular and systemic phenotypes vary, depending, in part, on the genetic mutations. This report presents a case of a patient with Hermansky-Pudlak syndrome and the unique association of iris heterochromia.

Diseases presenting "albinism" symptom

  • aniridia
  • cystinuria
  • harlequin ichthyosis
  • oculocutaneous albinism
  • phenylketonuria

This symptom has already been validated