Amish, Mennonite, and Hutterite
Genetic Disorder Database

Albinism, oculocutaneous, type 1B

Disorder
OMIM #: #606952  (Click to access OMIM database)
Disorder: Albinism, oculocutaneous, type 1B 
Also known as: Albinism, yellow mutant type
Yellow albinism 
Clinical
Phenotype: completely hypopigmented skin at birth with gradual skin colouration, yellow hair, persistant ocular albinism and nystagmus  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: Autosomal Recessive 
Mutations
ReferencesNance WE, Jackson CE, Witkop CJ Jr. (1970) Amish albinism: a distinctive autosomal recessive phenotype. Am. J. Hum. Genet. 22:579-586.
PubMed ID: 5516239
1   Amish  
Gene: TYR
Base Change: C>T, at nucleotide 1217
Amino Acid Change: pro 406 --> leu
Last updated: 2017-11-07 

References
Giebel L, Tripathi R, Strunk K, Hanifin J, Jackson C, King R, and Spritz A. (1991) Tyrosinase Gene Mutations Associated with Type 1B ("Yellow") Oculocutaneous Albinism. Am. J. Hum. Genet. 48: 1159-1167.
PubMed ID: 1903591 
Nance WE, Jackson CE, Witkop CJ Jr. (1970) Amish albinism: a distinctive autosomal recessive phenotype. Am. J. Hum. Genet. 22:579-586.
PubMed ID: 5516239 

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