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Results 1 - 10 of 10 for Oculocutaneous albinism type 4
Did you mean "oculo cutaneous" albinism type 4?
  1. Oculocutaneous albinism 
    ... milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen ... Registry: Oculocutaneous albinism type 3 Genetic Testing Registry: ... Genetic Testing Registry: Tyrosinase-negative oculocutaneous albinism Genetic ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  2. SLC45A2 gene 
    ... mutations in the SLC45A2 gene are responsible for oculocutaneous albinism type 4. The most common SLC45A2 mutation in the Japanese ... and problems with vision that are characteristic of oculocutaneous albinism type 4. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/slc45a2 - Genetics
  3. OCA2 gene 
    ... Oiso N, Wada T, Narazaki O, Fukai K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. J Med Genet. 2000 May;37(5):392-4. doi: 10.1136/jmg.37.5.392. No ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  4. MC1R gene 
    ... MC1R gene modify the appearance of people with oculocutaneous albinism type 2. This form of albinism, which is caused ... genes have many of the usual features of oculocutaneous albinism type 2; however, they typically have red hair instead ...
    https://medlineplus.gov/genetics/gene/mc1r - Genetics
  5. TYRP1 gene 
    ... the TYRP1 gene have been found to cause oculocutaneous albinism type 3. This condition includes a form of albinism ... on PubMed Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6): ...
    https://medlineplus.gov/genetics/gene/tyrp1 - Genetics
  6. Hermansky-Pudlak syndrome 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type ... 10.1164/rccm.201207-1206OC. Epub 2012 Oct 4. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/hermansky-pudlak-syndrome - Genetics
  7. HPS1 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type ...
    https://medlineplus.gov/genetics/gene/hps1 - Genetics
  8. HPS3 gene 
    ... E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type ...
    https://medlineplus.gov/genetics/gene/hps3 - Genetics
  9. Ocular albinism 
    ... SENSORINEURAL DEAFNESS; OASD ALBINISM, OCULAR, TYPE I; OA1 ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B PubMed Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, Levin A, Heon E, Menasche M, Dufier ... the OA1 gene in ocular albinism. Ophthalmic Genet. 2003 Sep;24(3):167-73. ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  10. Eye Diseases (National Library of Medicine)  
    Some eye problems are minor and don't last long. But some can lead to a permanent loss of vision. Common eye problems include: Refractive errors Cataracts - ...
    https://medlineplus.gov/eyediseases.html - Health Topics