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Results 1 - 10 of 18 for Oculocutaneous albinism
Did you mean "oculo cutaneous" albinism?
  1. Oculocutaneous albinism 
    Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  2. Albinism 
    ... The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white ...
    https://medlineplus.gov/ency/article/001479.htm - Medical Encyclopedia
  3. OCA2 gene 
    ... percentage of people with Angelman syndrome also have oculocutaneous albinism type 2. This condition occurs when people have ... OCA2 gene have been identified in people with oculocutaneous albinism type 2. People with this form of albinism ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  4. Hermansky-Pudlak syndrome 
    ... is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the ... skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the ...
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  5. Chediak-Higashi syndrome 
    ... syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the ... light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; ...
    https://medlineplus.gov/genetics/condition/chediak-higashi-syndrome - Genetics
  6. TYRP1 gene 
    ... the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism called rufous oculocutaneous albinism, which has been described primarily in dark-skinned ...
    https://medlineplus.gov/genetics/gene/tyrp1 - Genetics
  7. TYR gene 
    ... TYR gene have been identified in people with oculocutaneous albinism type 1. These mutations disrupt the normal production ... throughout life. These mutations cause a form of oculocutaneous albinism called type 1A (OCA1A). People with this form ...
    https://medlineplus.gov/genetics/gene/tyr - Genetics
  8. SLC45A2 gene 
    ... mutations in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in ... and problems with vision that are characteristic of oculocutaneous albinism type 4. More About This Health Condition MedlinePlus ...
    https://medlineplus.gov/genetics/gene/slc45a2 - Genetics
  9. MC1R gene 
    ... MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is ... genes have many of the usual features of oculocutaneous albinism type 2; however, they typically have red hair ...
    https://medlineplus.gov/genetics/gene/mc1r - Genetics
  10. HPS3 gene 
    ... form of the condition. Affected individuals typically have oculocutaneous albinism, a condition characterized by fair skin, light-colored ... properly, people with Hermansky-Pudlak syndrome can develop oculocutaneous albinism. The absence of dense granules within platelets leads ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
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