albinisms

Classification

 oculocutaneous albinisms

• oculocutaneous albinism type 1 (OCA1A MIM.203100) (TYR mutations MIM.606933)
• oculocutaneous albinism type 1 (OCA1B MIM.606952) (TYR mutations MIM.606933)
   oculocutaneous albinism type 2 (OCA2 MIM.103470) (OCA2 mutations MIM.611409)
• oculocutaneous albinism type 3 (OCA3 MIM.203290) (TYRP1 mutations MIM.115501)
• oculocutaneous albinism type 4 (OCA4 MIM.606574) (SLC45A2 mutations MIM.606202)

 ocular albinisms

• ocular albinism type 1 (OA1) (MIM.300500)

 albinism-deafness associations

• albinism-deafness syndrome (MIM.300700)
• ocular albinism with sensorineural deafness (MIM.103470) (digenic inheritance of a mutation in the transcription factor gene MITF (MIM.156845) and in a gene that it regulates, that for tyrosinase (TYR) (MIM.606933).
• congenital deafness with total albinism (MIM.220900)

 other albinisms

• Hermansky-Pudlak syndrome (HPS MIM.203300)
  • HPS1 (MIM.604982)
  • HPS2 (MIM.608233)
  • HPS3 (MIM.606118)
  • HPS4 (MIM.606682)
  • HPS5 (MIM.607521)
  • HPS6 (MIM.607522)
  • HPS7 (DTNBP1 MIM.607145)
  • HPS8 (BLOC1S3 MIM.609762)

• Griscelli syndrome (GS1 MIM.214450, GS2 MIM.607624, GS3 MIM.609227)
• Elejalde disease (MIM.256710)
• Chediak-Hiagashi syndrome (MIM.214500)
• ABCD syndrome (MIM.600501)

References

 Griffiths GM. Albinism and immunity: what’s the link? Curr Mol Med. 2002 Aug;2(5):479-83. PMID: 12125813