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Searched for "Albinism".

24 results found on Genetics Home Reference.

Showing results 1 to 20.
  • oculocutaneous albinism condition summary
    Found in name or synonym: Albinism, Oculocutaneous
    Related genes:
  • ocular albinism condition summary
    Found in name or synonym: Albinism, Ocular
    Related genes:
  • Chediak-Higashi syndrome condition summary
    Found in name or synonym: oculocutaneous albinism with leukocyte defect
    Related genes:
  • albinism definition
  • Hermansky-Pudlak syndrome condition summary
    Found: ...condition called oculocutaneous albinism, which causes abnormally light...
    Related genes:
  • OCA2 gene summary
    Official name: oculocutaneous albinism II
    Found: ...in people with oculocutaneous albinism type 2. People with this form of...
  • GPR143 gene summary
    Official name: G protein-coupled receptor 143
    Found: ...the most common form of ocular albinism, which is called the Nettleship-Falls...
  • TYR gene summary
    Official name: tyrosinase
    Found: ...in people with oculocutaneous albinism type 1. These mutations disrupt...
  • MC1R gene summary
    Official name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
    Found: ...of people with oculocutaneous albinism type 2. This form of albinism, which is caused by mutations in...
  • SLC45A2 gene summary
    Official name: solute carrier family 45, member 2
    Found: ...responsible for oculocutaneous albinism type 4. The most common SLC45A2...
  • TYRP1 gene summary
    Official name: tyrosinase-related protein 1
    Found: ...found to cause oculocutaneous albinism type 3. This condition includes...
  • Griscelli syndrome condition summary
    Related term: albinism
    Related genes:
  • piebaldism condition summary
    Related classification: Albinism
    Related genes:
  • HPS3 gene summary
    Official name: Hermansky-Pudlak syndrome 3
    Found: ...typically have oculocutaneous albinism, a condition characterized by fair...
  • HPS1 gene summary
    Official name: Hermansky-Pudlak syndrome 1
    Found: ...typically have oculocutaneous albinism, a condition characterized by fair...
  • LYST gene summary
    Official name: lysosomal trafficking regulator
    Found: ...syndrome have oculocutaneous albinism because melanin is trapped within...
  • HPS4 gene information
    Official name: Hermansky-Pudlak syndrome 4
    Found: ...characterized by oculocutaneous albinism, bleeding due to platelet storage...
  • BLOC1S3 gene information
    Official name: biogenesis of lysosomal organelles complex-1, subunit 3
    Found: ...characterized by oculocutaneous albinism, bleeding due to platelet storage...
  • LAMTOR2 gene information
    Official name: late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
    Found: ...congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic...
  • BLOC1S6 gene information
    Official name: biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
    Found: ...characterized by oculocutaneous albinism, bleeding due to platelet storage...
 
Published: December 16, 2014