Medical Definition of Hermansky-Pudlak syndrome type VI

1. An autosomal recessive deficiency of pigment in skin, hair, and eyes; in the tyrosinase negative type, there is an absence of tyrosinase; in the tyrosinase positive type, there is normal tyrosinase which cannot enter pigment cells; it is transmitted by an autosomal recessive inheritance. The compound heterozygote is normal so the two forms are not allelic. There are several types: type IA is characterised by absence of tyrosinase with life-long complete absence of melanin, marked photophobia, and nystagmus. Type IB, yellow albinism with low or absent tyrosinase; improves with age. Type II, with normal tyrosinase activity is the most common; hair darkens and nevi and freckles develop. Type III is characterised by absent tyrosinase but pigmentation of the iris in the first decade. Type IV in Africans with normal tyrosinase. Type V with red hair. Type VI, Hermansky-Padlak syndrome, with haemorrhage due to platelet deficiency and low to absent tyrosinase. Synonym: Hermansky-Pudlak syndrome type VI. (05 Mar 2000)



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Lexicographical Neighbors of Hermansky-Pudlak Syndrome Type VI

Hermann
Hermann's fixative
Hermann Goering
Hermann Goring
Hermann Hesse
Hermann Joseph Muller
Hermann Ludwig Ferdinand von Helmholtz
Hermann Maurice Saxe
Hermann Minkowski
Hermann Snellen
Hermann Wilhelm Goring
Hermann von Helmholtz
Hermannia
Hermannia verticillata
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome type VI (current term)
Hermaphroditus
Hermes
Hermian
Hermione
Hermissenda
Hermitian
Hermogenian
Hermogenians
Hermosillo
Hernan Cortes
Hernan Cortez
Hernando Cortes
Hernando Cortez

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