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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 1010 albinism oculocutaneous I Eponyms: Inheritance: albinism oculocutaneous type IA, type IB albinism oculocutaneous tyrosinase negative IA albinism yellow mutant type ATN OCA1 TYR tyrosinase-negative oculocutaneous albinism yellow albinism autosomal recessive Semeiological Cutaneous-metabolic-ocular disorder. Absence of skin/hair/eyes pigmentation, nystagmus, photophobia, choroidoretinal defects, iridal dyschromia, tyrosinase negative test. Incidence: 1:10,000. Carrier frequency Synthesis: 1/50. Group Sub group Signs: DERMATOLOGICAL DISORDERS cutis, changes in appearance and/or features isolated dermatological disorders hair, changes hair, light, grey, including premature greying hair-hair roots changes pigmentation changes cutis, hypopigmentation; fair skin LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 11q localization foetal-amniotic biochemical data tyrosinase, low activity (foetal) gene, structural-functional anomalies gene analysis-DNA analysis TYR tyrosinase, gene chr.11q14-q21 plasma nonprotein-organic constituents, anomalies amino acid disorders NEOPLASTIC DISEASES cancer, genetic features tumour susceptibility OCULAR DISORDERS choroidoretinal defects retinal pigmentation absent eye, motility defects nystagmus strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalies iris, translucency visus defects hemianopsia, binocular vision, ambliopia hyperopia, hypermetropy photophobia, fotofobia OTHERS inheritance inheritance, autosomal recessive supergroups cutaneous-oculo disorders albinism oculocutaneous I Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data prenatal diagnosis foetal biopsy prenatal diagnosis, metabolic prenatal diagnosis, molecular Super group: cutaneous-ocular disorders Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: METABOLIC DISORDERS amino acid disorders NEOPLASTIC DISORDERS tumour, susceptibility OTHER albinism, albinoidism isolated dermatological disorders Differential diagnosis: 1020 1090 5110 11400 12040 28813 albinism oculocutaneous II albinoidism oculocutaneous Chediak-Higashi syndrome Griscelli syndrome Hermansky-Pudlak syndrome osteoporosis-oculocutaneous hypopigmentation syndrome 20890 piebald trait 28822 red skin pigment anomaly Aggregation(s) [in differential diagnosis]: - albinism, albinoidism Bibliography albinism oculocutaneous I OMIM ID: 203100 Prenat.Diagn.21,200-201,2001 OMIM ID: 606933 OMIM ID: 606952 Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 394-395 Risk calculation in genetic counseling. 2hd Edition Birth Defects Encyclopedia J.L.Spitz: Genodermatoses. Lippincott William Wilkins Ed. 2006 Annuario Orphanet-Italia delle Malattie Rare 2005, pag.50 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.33963407,2007 Page 2 of 2
