Amish, Mennonite, and Hutterite
Genetic Disorder Database

Nanophthalmos 2

Disorder
OMIM #: #609549  (Click to access OMIM database)
Disorder: Nanophthalmos 2 
Also known as: Nanophthalmos, autosomal recessive, NNO2 
Clinical
Phenotype: extreme hyperopia (farsightedness), cornea and lens are of normal size and shape, visual axis is short with lensing components too close to the retina, thickening of both the choroidal vascular bed and scleral coat 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Unknown / Other Mennonite  
Gene: MFRP, E10 region
Base Change: ins.C, at nucleotide 1143
Amino Acid Change: Frame shift, truncation at 383(glycine)
Last updated: 2007-08-02 

References
Cross HE, Yoder F. (1976) Familial nanophthalmos. Am. J. Ophthal 81:300-306.
PubMed ID: 1258954 
Sundin OH, Leppert GS, Silva ED, Yang J-M, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, DiBernardo C, Suness JS, Toy J, Weinberg EM. (2005) Extreme hyperopia is the result of null mutations in MFRP, which encodes a frizzled-related protein. Proc. Natl. Acad. Sci. 102:9553-9558.
PubMed ID: 15976030 

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