... term GeneReviews Advanced Search Help < Prev Next > Oculocutaneous Albinism Type 4 Synonym: OCA4 Masahiro Hayashi , MD, PhD ... organizations. For information on selection criteria, click here . Albinism Database University of Minnesota MN albinismdb.med.umn. ...

... 9q22.3 between D9S162 and D9S165.[ 77 ] Oculocutaneous albinism Albinism is a major risk factor for skin ... in heterozygotes.[ 96 ] Table 6. Types of Oculocutaneous Albinism (OCA) View in own window Type Subtype Gene ...

... and toxicity to coral reefs. In addition to prevention of skin cancers, sun avoidance and use of sunscreen can also prevent early signs of sun damage and solar aging. In most circumstances, especially when the parents do not have albinism, children with albinism are referred to a pediatric ...

... genes listed in Table 1 . Clinical Diagnosis Oculocutaneous albinism is established by finding hypopigmentation of the skin ... HPS1 , HPS3 , HPS4 , HPS5 , or HPS6 . Differential Diagnosis Albinism. The diagnosis of Hermansky-Pudlak syndrome (HPS) should ...

... exon and whole-gene deletions or duplications. An albinism or neutropenia panel that includes LYST and other ... degree. 2. Also called "accelerated phase" Partial oculocutaneous albinism (OCA). Pigment dilution, which can involve eyes, hair, ...

... ITPR1 pathogenic variant [ Gerber et al 2016 ]. Oculocutaneous albinism (OCA) and ocular albinism typically present in early infancy with nystagmus but ... which distinguish these disorders from aniridia (see Oculocutaneous Albinism Type 4 and Oculocutaneous Albinism and Ocular Albinism ...

... increased skin cancer risk, including xeroderma pigmentosum and albinism. 54 Genetic mutations . Mutations in certain known high- ... followup data from the good-quality Nambour Skin Prevention Trial (n=1621)—which was included in the ...

... et al [2004] , Strauss & Puffenberger [2009] TYR Oculocutaneous albinism type 1B (See Oculocutaneous Albinism and Ocular Albinism Overview .) AR c.1217C>T p.Pro406Leu ~100% ...

... LYST Chediak-Higashi syndrome (CHS) AR Partial oculocutaneous albinism, a mild bleeding tendency, & severe immunodeficiency ~85% of ... assoc w/ neurologic abnormalities in addition to partial albinism w/fair skin & silvery-gray hair Many persons ...